Variant report

Variant	rs508548
Chromosome Location	chr11:65626539-65626540
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65626493-65628606	GM15510	blood:	n/a	n/a
2	POLR2A	chr11:65623326-65628516	K562	blood:	n/a	n/a
3	TAF1	chr11:65626464-65628961	H1-neurons	neurons:	n/a	n/a
4	SRF	chr11:65625329-65628578	HCT-116	colon:	n/a	chr11:65626934-65626952 chr11:65626959-65626969 chr11:65626996-65627010 chr11:65626992-65627006 chr11:65626934-65626951 chr11:65626992-65627010 chr11:65626991-65627009 chr11:65626937-65626951 chr11:65626935-65626950 chr11:65626995-65627006 chr11:65626991-65627006 chr11:65626938-65626947 chr11:65626934-65626948 chr11:65626933-65626947 chr11:65626933-65626951 chr11:65626936-65626949 chr11:65626996-65627005 chr11:65626991-65627005 chr11:65626989-65627006 chr11:65626996-65627007 chr11:65625700-65625710 chr11:65626994-65627007 chr11:65626933-65626951
5	ZNF384	chr11:65626262-65626659	GM12878	blood:	n/a	n/a
6	GABPA	chr11:65626507-65628682	K562	blood:	n/a	chr11:65626961-65626970
7	SP1	chr11:65626294-65628529	A549	lung:	n/a	chr11:65627695-65627707 chr11:65627093-65627105 chr11:65626780-65626794 chr11:65626957-65626971 chr11:65626961-65626971 chr11:65626962-65626971 chr11:65628128-65628140 chr11:65626779-65626791 chr11:65626781-65626790 chr11:65626961-65626971 chr11:65627095-65627104 chr11:65626779-65626791 chr11:65628124-65628133 chr11:65626780-65626790 chr11:65628125-65628134 chr11:65626861-65626875 chr11:65626960-65626972 chr11:65628128-65628140 chr11:65628123-65628135 chr11:65627093-65627105 chr11:65627014-65627028 chr11:65626729-65626741 chr11:65626962-65626971 chr11:65626961-65626970 chr11:65626960-65626972 chr11:65626906-65626915 chr11:65626780-65626789 chr11:65628129-65628138
8	MXI1	chr11:65626525-65627259	K562	blood:	n/a	chr11:65626884-65626899
9	HCFC1	chr11:65623229-65629451	Hela-S3	cervix:	n/a	n/a
10	SIX5	chr11:65626458-65626936	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:65617092-65633870	K562	blood:	n/a	n/a
12	POLR2A	chr11:65625404-65628352	MCF10A-Er-Src	breast:	n/a	n/a
13	ZNF143	chr11:65624824-65628112	K562	blood:	n/a	chr11:65625465-65625483 chr11:65625821-65625839 chr11:65625425-65625435 chr11:65625773-65625791 chr11:65625757-65625767 chr11:65625463-65625473 chr11:65625828-65625837 chr11:65626696-65626714 chr11:65627928-65627938 chr11:65627521-65627540 chr11:65625063-65625073
14	ZNF384	chr11:65626479-65626717	K562	blood:	n/a	n/a
15	POLR2A	chr11:65626492-65628830	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:65626491-65628190	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr11:65623812-65628919	HUVEC	blood vessel:	n/a	n/a
18	ZBTB7A	chr11:65626395-65628791	ECC-1	luminal epithelium:	n/a	chr11:65627845-65627854 chr11:65628065-65628074 chr11:65626820-65626829 chr11:65627114-65627125 chr11:65626622-65626630
19	NFIC	chr11:65625182-65626856	GM12878	blood:	n/a	n/a
20	YY1	chr11:65626449-65627366	GM12892	blood:	n/a	chr11:65627008-65627019 chr11:65626903-65626914 chr11:65626734-65626743 chr11:65627004-65627018 chr11:65626910-65626921 chr11:65626958-65626972 chr11:65626961-65626970 chr11:65627004-65627013
21	TCF12	chr11:65626536-65626932	H1-hESC	embryonic stem cell:	n/a	n/a
22	TAF1	chr11:65624974-65628641	H1-neurons	neurons:	n/a	n/a
23	CTCF	chr11:65626440-65626590	GM06990	blood:	n/a	n/a
24	ZBTB7A	chr11:65626479-65627267	ECC-1	luminal epithelium:	n/a	chr11:65626820-65626829 chr11:65627114-65627125 chr11:65626622-65626630
25	CHD1	chr11:65625981-65626708	H1-hESC	embryonic stem cell:	n/a	n/a
26	SIN3AK20	chr11:65626312-65627474	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr11:65624455-65628614	Raji	blood:	n/a	n/a
28	ZNF143	chr11:65626530-65627315	Hela-S3	cervix:	n/a	chr11:65626696-65626714
29	FOXM1	chr11:65624103-65628727	GM12878	blood:	n/a	n/a
30	RELA	chr11:65625310-65628564	GM15510	blood:	n/a	n/a
31	EGR1	chr11:65626464-65627162	ECC-1	luminal epithelium:	n/a	chr11:65626732-65626745 chr11:65626731-65626745 chr11:65626732-65626745 chr11:65626691-65626715 chr11:65626732-65626745 chr11:65626955-65626970 chr11:65626907-65626920 chr11:65626956-65626969 chr11:65626732-65626745 chr11:65626961-65626971 chr11:65626733-65626742
32	TAF1	chr11:65626510-65626728	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:65616755-65639999	U87	brain:	n/a	n/a
34	MAX	chr11:65626489-65627631	H1-hESC	embryonic stem cell:	n/a	chr11:65627400-65627407 chr11:65626959-65626969
35	TAF1	chr11:65626497-65626771	GM12892	blood:	n/a	n/a
36	SRF	chr11:65626510-65627180	GM12878	blood:	n/a	chr11:65626934-65626952 chr11:65626959-65626969 chr11:65626996-65627010 chr11:65626992-65627006 chr11:65626934-65626951 chr11:65626992-65627010 chr11:65626991-65627009 chr11:65626937-65626951 chr11:65626935-65626950 chr11:65626995-65627006 chr11:65626991-65627006 chr11:65626938-65626947 chr11:65626934-65626948 chr11:65626933-65626947 chr11:65626933-65626951 chr11:65626936-65626949 chr11:65626996-65627005 chr11:65626991-65627005 chr11:65626989-65627006 chr11:65626996-65627007 chr11:65626994-65627007 chr11:65626933-65626951
37	POU2F2	chr11:65626459-65628180	GM12891	blood:	n/a	chr11:65626909-65626921 chr11:65626781-65626793 chr11:65628027-65628039
38	POLR2A	chr11:65623953-65628863	K562	blood:	n/a	n/a
39	SP1	chr11:65626386-65628228	GM12878	blood:	n/a	chr11:65627695-65627707 chr11:65627093-65627105 chr11:65626780-65626794 chr11:65626957-65626971 chr11:65626961-65626971 chr11:65626962-65626971 chr11:65628128-65628140 chr11:65626779-65626791 chr11:65626781-65626790 chr11:65626961-65626971 chr11:65627095-65627104 chr11:65626779-65626791 chr11:65628124-65628133 chr11:65626780-65626790 chr11:65628125-65628134 chr11:65626861-65626875 chr11:65626960-65626972 chr11:65628128-65628140 chr11:65628123-65628135 chr11:65627093-65627105 chr11:65627014-65627028 chr11:65626729-65626741 chr11:65626962-65626971 chr11:65626961-65626970 chr11:65626960-65626972 chr11:65626906-65626915 chr11:65626780-65626789 chr11:65628129-65628138
40	POLR2A	chr11:65617198-65628973	PANC-1	pancreas:	n/a	n/a
41	ELF1	chr11:65626434-65628501	GM12878	blood:	n/a	chr11:65627160-65627171 chr11:65627161-65627170 chr11:65627005-65627017
42	SP1	chr11:65626404-65627284	H1-hESC	embryonic stem cell:	n/a	chr11:65627093-65627105 chr11:65626780-65626794 chr11:65626957-65626971 chr11:65626961-65626971 chr11:65626962-65626971 chr11:65626779-65626791 chr11:65626781-65626790 chr11:65626961-65626971 chr11:65627095-65627104 chr11:65626779-65626791 chr11:65626780-65626790 chr11:65626861-65626875 chr11:65626960-65626972 chr11:65627093-65627105 chr11:65627014-65627028 chr11:65626729-65626741 chr11:65626962-65626971 chr11:65626961-65626970 chr11:65626960-65626972 chr11:65626906-65626915 chr11:65626780-65626789
43	GABPA	chr11:65626466-65627404	SK-N-SH	brain:	n/a	chr11:65626961-65626970
44	MAX	chr11:65626505-65628938	HepG2	liver:	n/a	chr11:65627695-65627705 chr11:65627400-65627407 chr11:65626959-65626969
45	GABPA	chr11:65626490-65628550	A549	lung:	n/a	chr11:65626961-65626970
46	SPI1	chr11:65626428-65626720	GM12891	blood:	n/a	n/a
47	REST	chr11:65624165-65629037	H1-neurons	neurons:	n/a	chr11:65624432-65624445 chr11:65626962-65626975 chr11:65625387-65625400 chr11:65627183-65627193 chr11:65625048-65625058 chr11:65625469-65625482 chr11:65625462-65625472 chr11:65625656-65625669 chr11:65625751-65625764 chr11:65627849-65627858
48	PML	chr11:65624597-65628424	K562	blood:	n/a	n/a
49	NFYB	chr11:65625616-65627248	Hela-S3	cervix:	n/a	chr11:65625876-65625891
50	POLR2A	chr11:65626468-65628821	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65626522-65626572	PFSK-1	brain:	n/a
2	chr11:65626522-65626572	NB4	blood:	n/a
3	chr11:65626522-65626572	GM19239	blood:	n/a
4	chr11:65626522-65626572	HMEC	breast:	n/a
5	chr11:65626522-65626572	NH-A	brain:	n/a
6	chr11:65626522-65626572	SK-N-SH	brain:	n/a
7	chr11:65626522-65626572	HAEpiC	amniotic membrane:	n/a
8	chr11:65626522-65626572	BJ	skin:	n/a
9	chr11:65626522-65626572	NHBE	bronchial:	n/a
10	chr11:65626522-65626572	PrEC	prostate:	n/a
11	chr11:65626522-65626572	IMR90	lung:	fetal
12	chr11:65626522-65626572	K562	blood:	n/a
13	chr11:65626522-65626572	RPTEC	kidney:	n/a
14	chr11:65626522-65626572	HRE	kidney:	n/a
15	chr11:65626522-65626572	AG10803	skin:	n/a
16	chr11:65626522-65626572	SK-N-SH_RA	brain:	n/a
17	chr11:65626522-65626572	SK-N-MC	brain:	n/a
18	chr11:65626522-65626572	HRCEpiC	kidney:	n/a
19	chr11:65626522-65626572	HCF	heart:	n/a
20	chr11:65626522-65626572	AG09309	skin:	n/a
21	chr11:65626522-65626572	Hela-S3	cervix:	n/a
22	chr11:65626522-65626572	Caco-2	colon:	n/a
23	chr11:65626522-65626572	NHDF-neo	bronchial:	n/a
24	chr11:65626522-65626572	HCPEpiC	choroid plexus:	n/a
25	chr11:65626522-65626572	GM12878	blood:	n/a
26	chr11:65626522-65626572	GM12891	blood:	n/a
27	chr11:65626522-65626572	Hepatocyte	liver:	n/a
28	chr11:65626522-65626572	T-47D	breast:	n/a
29	chr11:65626522-65626572	HEK293	kidney:	embryo
30	chr11:65626522-65626572	HIPEpiC	eye:	n/a
31	chr11:65626522-65626572	HRPEpiC	eye:	n/a
32	chr11:65626522-65626572	BE2_C	brain:	n/a
33	chr11:65626522-65626572	SAEC	small airway:	n/a
34	chr11:65626522-65626572	MCF-7	breast:	n/a
35	chr11:65626522-65626572	GM12892	blood:	n/a
36	chr11:65626522-65626572	HCM	heart:	n/a
37	chr11:65626522-65626572	U87	brain:	n/a
38	chr11:65626522-65626572	ovcar-3	ovarian:	n/a
39	chr11:65626522-65626572	GM06990	blood:	n/a
40	chr11:65626522-65626572	A549	lung:	n/a
41	chr11:65626522-65626572	HCT-116	colon:	n/a
42	chr11:65626522-65626572	HNPCEpiC	eye:	n/a
43	chr11:65626522-65626572	HPAEpiC	pulmonary alveolar:	n/a
44	chr11:65626522-65626572	Jurkat	blood:	n/a
45	chr11:65626522-65626572	ProgFib	skin:	n/a
46	chr11:65626522-65626572	SKMC	muscle:	n/a
47	chr11:65626522-65626572	AG04449	skin:	fetal
48	chr11:65626522-65626572	LNCaP	prostate:	n/a
49	chr11:65626522-65626572	AG04450	lung:	fetal
50	chr11:65626522-65626572	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65625132..65628506-chr11:66035169..66036764,3	K562	blood:
2	chr11:65625517..65628088-chr11:65710841..65713644,2	MCF-7	breast:
3	chr11:65381104..65384699-chr11:65624758..65628552,6	MCF-7	breast:
4	chr11:65472429..65485450-chr11:65615794..65629774,38	K562	blood:
5	chr11:65266409..65268199-chr11:65625346..65627326,2	K562	blood:
6	chr11:65624293..65627593-chr11:65778197..65781174,3	MCF-7	breast:
7	chr11:65343882..65346090-chr11:65625521..65627061,2	MCF-7	breast:
8	chr11:65428959..65430837-chr11:65624739..65627866,4	K562	blood:
9	chr11:65320341..65322130-chr11:65626386..65628197,2	K562	blood:
10	chr11:65626045..65626602-chr9:133454632..133455336,2	Hela-S3	cervix:
11	chr11:65263752..65266788-chr11:65624237..65626722,4	K562	blood:
12	chr11:65428923..65432488-chr11:65624731..65627563,6	MCF-7	breast:
13	chr11:65623212..65627104-chr11:65728021..65730947,7	MCF-7	breast:
14	chr11:65545624..65552162-chr11:65622017..65629334,15	K562	blood:
15	chr11:65625072..65626937-chr11:65835477..65837832,2	K562	blood:
16	chr11:65336983..65338518-chr11:65624191..65626684,2	MCF-7	breast:
17	chr11:65625774..65626580-chr5:43018226..43018829,2	Hela-S3	cervix:
18	chr11:65622510..65630779-chr11:65675126..65689187,23	MCF-7	breast:
19	chr11:65482499..65489390-chr11:65622947..65628870,15	MCF-7	breast:
20	chr11:65626233..65629168-chr11:65768411..65771473,3	MCF-7	breast:
21	chr11:65423887..65432217-chr11:65622069..65628988,12	K562	blood:
22	chr11:65485004..65489716-chr11:65621545..65626984,9	K562	blood:
23	chr11:65336222..65339291-chr11:65623626..65626992,4	K562	blood:
24	chr11:65408028..65411075-chr11:65624392..65627555,3	K562	blood:
25	chr11:65428865..65431305-chr11:65626478..65629718,3	MCF-7	breast:
26	chr11:65307252..65310035-chr11:65625535..65628177,3	K562	blood:
27	chr11:65623413..65628719-chr11:65768360..65773657,11	MCF-7	breast:
28	chr11:65624882..65627968-chr11:66034504..66038316,6	K562	blood:
29	chr11:65377447..65384699-chr11:65622853..65629192,15	MCF-7	breast:
30	chr11:65626410..65629243-chr2:70140118..70142563,2	MCF-7	breast:
31	chr11:65625083..65627509-chr6:26216326..26218082,2	MCF-7	breast:
32	chr11:65485735..65490975-chr11:65621882..65626984,8	K562	blood:
33	chr11:65545480..65548295-chr11:65624014..65629369,5	MCF-7	breast:
34	chr11:65545624..65551607-chr11:65624049..65629334,14	K562	blood:
35	chr11:65189338..65192942-chr11:65624454..65628332,4	K562	blood:
36	chr11:65622512..65626950-chr11:65664131..65668520,8	MCF-7	breast:
37	chr11:65311405..65314216-chr11:65624257..65626834,2	MCF-7	breast:
38	chr11:65625214..65627080-chr11:65825181..65826865,2	MCF-7	breast:
39	chr11:65401684..65407000-chr11:65623220..65627704,6	K562	blood:
40	chr11:65347142..65349772-chr11:65625347..65627278,2	MCF-7	breast:
41	chr11:65544951..65562337-chr11:65623093..65630859,34	MCF-7	breast:
42	chr11:65391012..65395205-chr11:65623558..65626894,4	MCF-7	breast:
43	chr11:65413332..65415260-chr11:65625154..65627683,2	K562	blood:
44	chr11:65477884..65488010-chr11:65623516..65630419,28	MCF-7	breast:
45	chr11:65624171..65627161-chr11:65818449..65820914,2	K562	blood:
46	chr11:65624197..65629461-chr11:65817994..65821738,6	K562	blood:
47	chr11:65477240..65482056-chr11:65622069..65629377,17	MCF-7	breast:
48	chr11:65624095..65629782-chr11:65682347..65689302,13	MCF-7	breast:
49	chr11:65189710..65191298-chr11:65624964..65626721,2	MCF-7	breast:
50	chr11:65408552..65410690-chr11:65624171..65626866,2	K562	blood:

Variant related genes	Relation type
CFL1	TF binding region
MUS81	TF binding region
MUS81	CpG island
CFL1	CpG island
ENSG00000175376	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000251131	Chromatin interaction
ENSG00000173442	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000175513	Chromatin interaction
ENSG00000174903	Chromatin interaction
ENSG00000254762	Chromatin interaction
ENSG00000107164	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000172922	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000173465	Chromatin interaction
ENSG00000168056	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000260233	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000176973	Chromatin interaction
ENSG00000175592	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000213445	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000059728	Chromatin interaction
ENSG00000175315	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000255120	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000266041	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10791828	0.85[AMR][1000 genomes]
rs13817	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1939212	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4621	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538394	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs545500	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs558114	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs630303	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs630755	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs633877	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs635375	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs648732	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652021	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656040	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs665306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs667555	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs668356	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679147	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7125986	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7947741	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7947929	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
9	nsv897763	chr11:65613348-65644027	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	121 gene(s)	inside rSNPs	diseases
10	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
11	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
12	nsv897766	chr11:65624025-65644027	Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs508548	FIBP	Cis_1M	lymphoblastoid	RTeQTL
rs508548	SNX32	cis	Whole Blood	GTEx
rs508548	SNX32	cis	Esophagus Muscularis	GTEx
rs508548	SNX32	cis	Artery Tibial	GTEx
rs508548	SNX32	cis	Thyroid	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65623800-65628800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:65623800-65629200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:65624000-65627200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:65624000-65628600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr11:65624000-65628600	Active TSS	Lung	lung
6	chr11:65624000-65628800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr11:65624000-65628800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:65624000-65629000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:65624000-65629000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr11:65624200-65627000	Active TSS	Spleen	Spleen
11	chr11:65624200-65627200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:65624200-65628600	Active TSS	Right Ventricle	heart
13	chr11:65624200-65628600	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr11:65624200-65628800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:65624200-65628800	Active TSS	Gastric	stomach
16	chr11:65624200-65629000	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr11:65624200-65629000	Active TSS	Aorta	Aorta
18	chr11:65624200-65629000	Active TSS	Ovary	ovary
19	chr11:65624200-65629200	Active TSS	Small Intestine	intestine
20	chr11:65624400-65626600	Active TSS	Fetal Muscle Trunk	muscle
21	chr11:65624400-65627200	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr11:65624400-65627200	Active TSS	Pancreas	Pancrea
23	chr11:65624400-65627200	Active TSS	NHDF-Ad	bronchial
24	chr11:65624400-65628600	Active TSS	Brain Substantia Nigra	brain
25	chr11:65624400-65628600	Active TSS	Colon Smooth Muscle	Colon
26	chr11:65624400-65628600	Active TSS	Thymus	Thymus
27	chr11:65624400-65628800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:65624400-65628800	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr11:65624400-65628800	Active TSS	Esophagus	oesophagus
30	chr11:65624400-65628800	Active TSS	Left Ventricle	heart
31	chr11:65624400-65628800	Active TSS	K562	blood
32	chr11:65624400-65629000	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr11:65624400-65629200	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr11:65624400-65629400	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr11:65624400-65629600	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr11:65624600-65627200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:65624600-65627200	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr11:65624600-65628800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:65624600-65628800	Active TSS	Psoas Muscle	Psoas
40	chr11:65624600-65629000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:65624800-65627200	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr11:65625000-65627000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:65625000-65627200	Active TSS	A549	lung
44	chr11:65625200-65627000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:65625200-65627200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:65625200-65628400	Active TSS	Fetal Brain Female	brain
47	chr11:65625400-65627400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:65625600-65626800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:65625600-65627200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:65625600-65627200	Active TSS	Brain Germinal Matrix	brain

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