Variant report

Variant	rs7942649
Chromosome Location	chr11:73000403-73000404
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	CREB1	chr11:73000189-73000761	A549	lung:	n/a	n/a
2	RELA	chr11:72999316-73000910	GM18951	blood:	n/a	chr11:72999958-72999967 chr11:72999958-72999967
3	FOXP2	chr11:73000275-73000812	PFSK-1	brain:	n/a	n/a
4	MAX	chr11:73000182-73000829	GM12878	blood:	n/a	n/a
5	IRF4	chr11:73000339-73000858	GM12878	blood:	n/a	n/a
6	PAX5	chr11:73000275-73000822	GM12878	blood:	n/a	chr11:73000557-73000566 chr11:73000554-73000563
7	RAD21	chr11:72999646-73001171	SK-N-SH	brain:	n/a	chr11:73000044-73000058 chr11:72999667-72999680 chr11:73000686-73000705
8	POLR2A	chr11:73000393-73000739	HUVEC	blood vessel:	n/a	n/a
9	RAD21	chr11:73000227-73000963	HCT-116	colon:	n/a	chr11:73000686-73000705
10	EP300	chr11:72999640-73000970	A549	lung:	n/a	chr11:73000292-73000306 chr11:73000552-73000566
11	CTCF	chr11:73000126-73000442	K562	blood:	n/a	n/a
12	TCF12	chr11:72999607-73001038	A549	lung:	n/a	chr11:73000051-73000058
13	BCL3	chr11:73000235-73000980	A549	lung:	n/a	chr11:73000557-73000566
14	RCOR1	chr11:73000387-73000810	GM12878	blood:	n/a	n/a
15	RAD21	chr11:72999796-73001009	A549	lung:	n/a	chr11:73000044-73000058 chr11:73000686-73000705
16	KAP1	chr11:73000039-73000886	HEK293	kidney:	n/a	n/a
17	ZBTB7A	chr11:73000278-73000991	ECC-1	luminal epithelium:	n/a	n/a
18	CTCF	chr11:72999902-73001152	SK-N-SH	brain:	n/a	chr11:73000688-73000706 chr11:73000683-73000704
19	SMC3	chr11:73000040-73000898	Hela-S3	cervix:	n/a	n/a
20	REST	chr11:73000304-73000825	A549	lung:	n/a	chr11:73000416-73000430 chr11:73000418-73000428
21	BCLAF1	chr11:73000332-73000936	GM12878	blood:	n/a	chr11:73000557-73000566
22	SP1	chr11:72999621-73000938	A549	lung:	n/a	chr11:73000324-73000336 chr11:73000326-73000335 chr11:73000325-73000334 chr11:73000324-73000336
23	RAD21	chr11:73000383-73000832	SK-N-SH_RA	brain:	n/a	chr11:73000686-73000705
24	CTCF	chr11:73000159-73000868	GM12892	blood:	n/a	chr11:73000688-73000706 chr11:73000683-73000704
25	IRF4	chr11:73000304-73000932	GM12878	blood:	n/a	n/a
26	RAD21	chr11:73000356-73000955	A549	lung:	n/a	chr11:73000686-73000705
27	CTCF	chr11:73000300-73000450	AoAF	blood vessel:	n/a	n/a
28	CTCF	chr11:73000352-73000476	NHEK	skin:	n/a	n/a
29	CTCF	chr11:73000146-73000878	GM19238	blood:	n/a	chr11:73000688-73000706 chr11:73000683-73000704
30	SP1	chr11:72999611-73000870	A549	lung:	n/a	chr11:73000324-73000336 chr11:73000326-73000335 chr11:73000325-73000334 chr11:73000324-73000336
31	SPI1	chr11:73000090-73000933	GM12878	blood:	n/a	chr11:73000553-73000562 chr11:73000557-73000566
32	POLR2A	chr11:72999931-73000769	HepG2	liver:	n/a	n/a
33	ATF3	chr11:73000033-73000905	A549	lung:	n/a	n/a
34	FOS	chr11:72999690-73000797	HUVEC	blood vessel:	n/a	chr11:73000068-73000076 chr11:73000067-73000077 chr11:73000066-73000077 chr11:73000069-73000080
35	CHD1	chr11:72999902-73001197	IMR90	lung:	n/a	n/a
36	CTCF	chr11:73000113-73001081	HCT-116	colon:	n/a	chr11:73000688-73000706 chr11:73000683-73000704
37	PML	chr11:73000268-73000951	GM12878	blood:	n/a	n/a
38	RELA	chr11:72999171-73000956	GM12891	blood:	n/a	chr11:72999958-72999967 chr11:72999958-72999967
39	TCF12	chr11:72999707-73000725	A549	lung:	n/a	chr11:73000051-73000058
40	MAZ	chr11:72999941-73000862	K562	blood:	n/a	n/a
41	RAD21	chr11:73000073-73000896	GM12878	blood:	n/a	chr11:73000686-73000705
42	RELA	chr11:72999790-73000872	GM15510	blood:	n/a	chr11:72999958-72999967 chr11:72999958-72999967
43	MAX	chr11:72999694-73000932	A549	lung:	n/a	n/a
44	YY1	chr11:73000319-73000476	K562	blood:	n/a	chr11:73000331-73000342
45	ZNF143	chr11:72999704-73000871	K562	blood:	n/a	chr11:72999971-72999989
46	MAX	chr11:72999626-73001013	A549	lung:	n/a	n/a
47	CTCF	chr11:73000015-73001039	K562	blood:	n/a	chr11:73000688-73000706 chr11:73000683-73000704
48	RAD21	chr11:73000112-73000425	HepG2	liver:	n/a	n/a
49	NRF1	chr11:73000216-73000843	GM12878	blood:	n/a	n/a
50	MAZ	chr11:72999731-73001101	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72929173..72930027-chr11:73000290..73000931,3	MCF-7	breast:
2	chr11:72999826..73001894-chr11:73086497..73088526,2	K562	blood:
3	chr11:73000200..73002176-chr11:73003016..73005569,2	K562	blood:

Variant related genes	Relation type
P2RY6	TF binding region
ENSG00000175591	Chromatin interaction
ENSG00000171631	Chromatin interaction
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10898913	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10898914	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10898915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235699	1.00[JPT][hapmap]
rs11235701	0.95[ASN][1000 genomes]
rs11235703	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11235705	1.00[ASN][1000 genomes]
rs11235706	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11235707	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235708	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235709	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235710	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235711	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235713	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12276627	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12363628	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12787775	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12790447	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12790863	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12794405	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12801084	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808111	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894075	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28513476	1.00[ASN][1000 genomes]
rs34023835	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34385073	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35455220	1.00[ASN][1000 genomes]
rs35963948	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4432047	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592517	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs67897720	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103650	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7106903	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7114877	0.95[ASN][1000 genomes]
rs7116594	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123808	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127179	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127940	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7925649	1.00[JPT][hapmap]
rs7930891	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882904	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9988805	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72996400-73001000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr11:72997000-73003400	Enhancers	Fetal Intestine Large	intestine
3	chr11:72997200-73001000	Genic enhancers	Fetal Intestine Small	intestine
4	chr11:72997800-73000800	Enhancers	Lung	lung
5	chr11:72998200-73001000	Enhancers	Fetal Heart	heart
6	chr11:72998200-73001000	Enhancers	Left Ventricle	heart
7	chr11:72998400-73001200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr11:72998400-73003600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:72998600-73000800	Enhancers	Fetal Thymus	thymus
10	chr11:72998600-73000800	Enhancers	Right Ventricle	heart
11	chr11:72998600-73001000	Enhancers	Primary hematopoietic stem cells	blood
12	chr11:72998600-73001600	Enhancers	Primary B cells from cord blood	blood
13	chr11:72998600-73002000	Enhancers	Primary B cells from peripheral blood	blood
14	chr11:72998800-73000600	Enhancers	HSMMtube	muscle
15	chr11:72998800-73000800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:72998800-73001000	Enhancers	Stomach Mucosa	stomach
17	chr11:72998800-73001200	Enhancers	HUVEC	blood vessel
18	chr11:72999000-73000600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr11:72999000-73004600	Enhancers	Spleen	Spleen
20	chr11:72999200-73000800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr11:72999200-73002600	Enhancers	Placenta	Placenta
22	chr11:72999400-73000600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:72999400-73000600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr11:72999400-73000800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:72999400-73001000	Enhancers	HMEC	breast
26	chr11:72999400-73001000	Enhancers	NH-A	brain
27	chr11:72999600-73000600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:72999600-73000600	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr11:72999600-73000600	Flanking Bivalent TSS/Enh	HepG2	liver
30	chr11:72999600-73000600	Enhancers	NHEK	skin
31	chr11:72999600-73000800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:72999600-73001000	Enhancers	NHDF-Ad	bronchial
33	chr11:72999800-73000600	Enhancers	Aorta	Aorta
34	chr11:72999800-73000800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:72999800-73000800	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr11:72999800-73000800	Enhancers	Esophagus	oesophagus
37	chr11:72999800-73000800	Flanking Active TSS	A549	lung
38	chr11:72999800-73001000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:72999800-73001000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr11:72999800-73001000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:72999800-73001000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:72999800-73001000	Enhancers	Liver	Liver
43	chr11:72999800-73001000	Enhancers	Fetal Lung	lung
44	chr11:72999800-73001000	Flanking Active TSS	Osteobl	bone
45	chr11:72999800-73001200	Enhancers	Brain Anterior Caudate	brain
46	chr11:72999800-73001200	Flanking Active TSS	GM12878-XiMat	blood
47	chr11:72999800-73005000	Enhancers	Placenta Amnion	Placenta Amnion
48	chr11:73000000-73000600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:73000000-73000600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:73000000-73000600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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