Variant report

Variant	rs7951306
Chromosome Location	chr11:34073472-34073473
allele	A/G
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	PML	chr11:34072680-34075311	GM12878	blood:	n/a	n/a
2	EP300	chr11:34072965-34073473	HepG2	liver:	n/a	chr11:34073399-34073415 chr11:34073099-34073115
3	ZBTB7A	chr11:34072844-34074016	K562	blood:	n/a	chr11:34073832-34073841
4	POLR2A	chr11:34072808-34075174	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:34072928-34074459	GM12891	blood:	n/a	n/a
6	POLR2A	chr11:34073086-34073479	HepG2	liver:	n/a	n/a
7	TBP	chr11:34072470-34075318	K562	blood:	n/a	n/a
8	CEBPD	chr11:34072874-34074056	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:34072650-34075272	ProgFib	skin:	n/a	n/a
10	JUND	chr11:34072712-34074057	K562	blood:	n/a	n/a
11	CHD2	chr11:34072676-34075278	Hela-S3	cervix:	n/a	n/a
12	EBF1	chr11:34072675-34074028	GM12878	blood:	n/a	n/a
13	HEY1	chr11:34072719-34074125	HepG2	liver:	n/a	chr11:34073828-34073843
14	RELA	chr11:34072695-34075299	GM12891	blood:	n/a	n/a
15	RCOR1	chr11:34072926-34074163	IMR90	lung:	n/a	n/a
16	POLR2A	chr11:34072843-34075151	GM12878	blood:	n/a	n/a
17	HDAC2	chr11:34073209-34073501	H1-hESC	embryonic stem cell:	n/a	chr11:34073407-34073416
18	CREB1	chr11:34072744-34075289	HepG2	liver:	n/a	n/a
19	SIN3AK20	chr11:34072737-34074221	HCT-116	colon:	n/a	n/a
20	POLR2A	chr11:34072350-34074205	HUVEC	blood vessel:	n/a	n/a
21	TAF1	chr11:34072652-34073495	H1-neurons	neurons:	n/a	n/a
22	E2F1	chr11:34073045-34074082	Hela-S3	cervix:	n/a	chr11:34073831-34073840 chr11:34073210-34073222 chr11:34073404-34073419 chr11:34073673-34073682 chr11:34073658-34073667
23	ELF1	chr11:34072870-34075215	GM12878	blood:	n/a	chr11:34073676-34073685 chr11:34073672-34073684 chr11:34073111-34073123 chr11:34074220-34074232 chr11:34073110-34073122 chr11:34073397-34073409 chr11:34074215-34074227
24	ETS1	chr11:34072896-34073472	K562	blood:	n/a	n/a
25	MYBL2	chr11:34072744-34074181	HepG2	liver:	n/a	n/a
26	YY1	chr11:34072821-34074373	HepG2	liver:	n/a	chr11:34073654-34073668 chr11:34073655-34073669 chr11:34073195-34073209
27	TCF12	chr11:34072416-34075352	A549	lung:	n/a	chr11:34073233-34073243 chr11:34072961-34072968
28	HEY1	chr11:34072828-34074160	K562	blood:	n/a	chr11:34073828-34073843
29	SP1	chr11:34072474-34074527	HCT-116	colon:	n/a	chr11:34072908-34072917 chr11:34073673-34073682 chr11:34074301-34074315 chr11:34073837-34073846 chr11:34072907-34072921 chr11:34072477-34072487 chr11:34073835-34073847 chr11:34074294-34074308 chr11:34072901-34072915 chr11:34073835-34073846 chr11:34073672-34073681 chr11:34072907-34072917 chr11:34073836-34073850 chr11:34073835-34073847
30	POLR2A	chr11:34072607-34075204	Raji	blood:	n/a	n/a
31	GABPA	chr11:34072891-34074374	K562	blood:	n/a	chr11:34073404-34073413 chr11:34073406-34073415 chr11:34073831-34073840
32	PBX3	chr11:34072757-34073517	A549	lung:	n/a	n/a
33	POLR2A	chr11:34072553-34075638	MCF10A-Er-Src	breast:	n/a	n/a
34	REST	chr11:34073128-34074037	PANC-1	pancreas:	n/a	chr11:34073259-34073269 chr11:34073414-34073427
35	UBTF	chr11:34072617-34075262	K562	blood:	n/a	n/a
36	POLR2A	chr11:34072867-34074474	Gliobla	brain:	n/a	n/a
37	POLR2A	chr11:34072842-34073747	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr11:34072852-34074414	A549	lung:	n/a	n/a
39	POLR2A	chr11:34072860-34075312	Hela-S3	cervix:	n/a	n/a
40	HEY1	chr11:34072625-34074156	HepG2	liver:	n/a	chr11:34073828-34073843
41	POLR2A	chr11:34072909-34075377	H1-hESC	embryonic stem cell:	n/a	n/a
42	E2F6	chr11:34072623-34074272	K562	blood:	n/a	chr11:34073831-34073840 chr11:34073210-34073222 chr11:34073404-34073419 chr11:34073673-34073682 chr11:34073658-34073667 chr11:34074194-34074209
43	ELF1	chr11:34072968-34074059	HepG2	liver:	n/a	chr11:34073676-34073685 chr11:34073672-34073684 chr11:34073111-34073123 chr11:34073110-34073122 chr11:34073397-34073409
44	POLR2A	chr11:34072901-34073491	A549	lung:	n/a	n/a
45	SIN3A	chr11:34072415-34075452	H1-hESC	embryonic stem cell:	n/a	chr11:34073371-34073382 chr11:34073459-34073472 chr11:34075026-34075037
46	MAZ	chr11:34072689-34075413	GM12878	blood:	n/a	chr11:34074478-34074488
47	MAX	chr11:34072629-34074204	HepG2	liver:	n/a	n/a
48	MAZ	chr11:34072942-34074924	HepG2	liver:	n/a	chr11:34074478-34074488
49	FOXP2	chr11:34072869-34073487	PFSK-1	brain:	n/a	n/a
50	TBP	chr11:34072809-34074053	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:34072129..34073643-chr11:34109400..34112113,2	MCF-7	breast:
2	chr11:34073196..34074070-chr6:30539019..30539630,2	HCT-116	colon:
3	chr11:34072138..34074908-chr17:56707935..56709645,2	MCF-7	breast:
4	chr1:149222363..149225341-chr11:34071940..34074204,2	MCF-7	breast:
5	chr11:34072966..34075629-chr11:34112119..34114294,2	MCF-7	breast:
6	chr11:34073078..34074014-chr2:85829316..85830023,2	HCT-116	colon:
7	chr11:34072006..34079358-chr11:34124269..34129390,19	K562	blood:
8	chr11:34073237..34073837-chr15:42565350..42566240,2	Hela-S3	cervix:
9	chr11:34068673..34076707-chr11:34122442..34129826,21	K562	blood:
10	chr11:34070943..34077471-chr11:34125498..34130034,9	MCF-7	breast:
11	chr11:34073154..34075111-chr11:34112117..34115103,4	K562	blood:
12	chr11:34073205..34075094-chr11:34377742..34380453,3	MCF-7	breast:
13	chr11:34073154..34074985-chr11:34112117..34113904,3	K562	blood:
14	chr11:33279061..33281281-chr11:34073248..34075291,2	K562	blood:
15	chr11:34071305..34076629-chr11:34124370..34130035,10	MCF-7	breast:
16	chr11:34073129..34073642-chr11:61584311..61584940,2	Hela-S3	cervix:
17	chr11:34071981..34076766-chr11:34377622..34383038,7	MCF-7	breast:

Variant related genes	Relation type
CAPRIN1	TF binding region
ENSG00000204574	Chromatin interaction
ENSG00000166016	Chromatin interaction
ENSG00000214013	Chromatin interaction
ENSG00000135372	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000103978	Chromatin interaction
ENSG00000110422	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000168890	Chromatin interaction
ENSG00000168883	Chromatin interaction
ENSG00000135387	Chromatin interaction
ENSG00000149485	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10768047	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11032506	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11032507	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11606854	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12418005	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12418412	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12419629	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16925114	0.85[ASW][hapmap];1.00[YRI][hapmap]
rs16925115	1.00[YRI][hapmap]
rs16925121	1.00[YRI][hapmap]
rs16925126	1.00[YRI][hapmap]
rs16925134	1.00[YRI][hapmap]
rs16925147	1.00[YRI][hapmap]
rs16925153	1.00[YRI][hapmap]
rs16925155	1.00[YRI][hapmap]
rs16925160	1.00[YRI][hapmap]
rs16925163	1.00[YRI][hapmap]
rs16925167	0.85[ASW][hapmap];1.00[YRI][hapmap]
rs16925170	0.85[ASW][hapmap];1.00[YRI][hapmap]
rs16925173	1.00[YRI][hapmap]
rs16925175	0.85[ASW][hapmap];1.00[YRI][hapmap]
rs16925177	1.00[YRI][hapmap]
rs16925181	1.00[YRI][hapmap]
rs16925182	0.85[ASW][hapmap];1.00[YRI][hapmap]
rs16925183	1.00[YRI][hapmap]
rs16925184	0.85[ASW][hapmap];1.00[YRI][hapmap]
rs17367679	1.00[YRI][hapmap]
rs2982619	0.95[LWK][hapmap]
rs7102797	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7104352	1.00[YRI][hapmap]
rs7117217	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7117410	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7125948	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73486549	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73486551	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73497017	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73497025	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7483997	1.00[YRI][hapmap]
rs7925202	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7951527	1.00[YRI][hapmap]
rs7951543	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8191	1.00[YRI][hapmap]
rs958332	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424593	chr11:34071901-34074749	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34072200-34074000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:34072200-34075600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr11:34072200-34076200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr11:34072400-34074000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:34072400-34074000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:34072400-34074000	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr11:34072400-34074000	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr11:34072400-34074200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:34072400-34074200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:34072400-34074200	Active TSS	Fetal Muscle Trunk	muscle
11	chr11:34072400-34074800	Active TSS	Colonic Mucosa	Colon
12	chr11:34072400-34075200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:34072400-34075200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:34072400-34075200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr11:34072400-34075400	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr11:34072400-34075400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:34072400-34075600	Active TSS	Psoas Muscle	Psoas
18	chr11:34072400-34075600	Active TSS	Right Ventricle	heart
19	chr11:34072400-34075800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:34072400-34075800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:34072400-34075800	Active TSS	HSMMtube	muscle
22	chr11:34072400-34076000	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr11:34072400-34076000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:34072400-34076200	Active TSS	H9 Cell Line	embryonic stem cell
25	chr11:34072400-34076400	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr11:34072400-34076400	Active TSS	Fetal Brain Female	brain
27	chr11:34072400-34076400	Active TSS	GM12878-XiMat	blood
28	chr11:34072400-34076600	Active TSS	H1 Cell Line	embryonic stem cell
29	chr11:34072400-34076600	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr11:34072600-34074000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:34072600-34074000	Active TSS	Muscle Satellite Cultured Cells	--
32	chr11:34072600-34074000	Active TSS	Brain Germinal Matrix	brain
33	chr11:34072600-34074200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:34072600-34074200	Active TSS	Fetal Intestine Small	intestine
35	chr11:34072600-34074400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:34072600-34074600	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr11:34072600-34074600	Active TSS	Brain Substantia Nigra	brain
38	chr11:34072600-34074800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:34072600-34074800	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr11:34072600-34075200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:34072600-34075200	Active TSS	Liver	Liver
42	chr11:34072600-34075200	Active TSS	Brain Anterior Caudate	brain
43	chr11:34072600-34075200	Active TSS	Brain Cingulate Gyrus	brain
44	chr11:34072600-34075200	Active TSS	Colon Smooth Muscle	Colon
45	chr11:34072600-34075200	Active TSS	Lung	lung
46	chr11:34072600-34075200	Active TSS	Pancreas	Pancrea
47	chr11:34072600-34075200	Active TSS	Rectal Smooth Muscle	rectum
48	chr11:34072600-34075400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:34072600-34075400	Active TSS	Aorta	Aorta
50	chr11:34072600-34075400	Active TSS	Esophagus	oesophagus

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