Variant report

Variant	rs11204329
Chromosome Location	chr17:20902703-20902704
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	FOSL2	chr17:20899864-20904071	HepG2	liver:	n/a	chr17:20902795-20902805 chr17:20902795-20902805 chr17:20902795-20902805 chr17:20902204-20902216
2	POLR2A	chr17:20899351-20909849	K562	blood:	n/a	n/a
3	POLR2A	chr17:20900490-20903179	K562	blood:	n/a	n/a
4	POLR2A	chr17:20901407-20902768	HL-60	blood:	n/a	n/a
5	POLR2A	chr17:20902216-20902912	GM12878	blood:	n/a	n/a
6	POLR2A	chr17:20901052-20902950	GM12891	blood:	n/a	n/a
7	POLR2A	chr17:20902279-20903066	K562	blood:	n/a	n/a
8	POLR2A	chr17:20902518-20902892	HepG2	liver:	n/a	n/a
9	POLR2A	chr17:20899206-20903031	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr17:20900814-20902988	GM12878	blood:	n/a	n/a
11	NFATC1	chr17:20900906-20902881	GM12878	blood:	n/a	chr17:20902246-20902259
12	POLR2A	chr17:20900994-20903050	HepG2	liver:	n/a	n/a
13	POLR2A	chr17:20901226-20902882	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr17:20901121-20902989	HCT-116	colon:	n/a	n/a
15	POLR2A	chr17:20902235-20902846	GM12891	blood:	n/a	n/a
16	POLR2A	chr17:20902358-20902728	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr17:20899538-20902748	U87	brain:	n/a	n/a
18	POLR2A	chr17:20902284-20902963	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAZ	chr17:20902111-20903257	IMR90	lung:	n/a	n/a
20	JUND	chr17:20902689-20902805	K562	blood:	n/a	chr17:20902795-20902805 chr17:20902795-20902805 chr17:20902795-20902805
21	POLR2A	chr17:20900718-20903554	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr17:20902634-20902853	A549	lung:	n/a	n/a
23	MTA3	chr17:20900675-20902913	GM12878	blood:	n/a	n/a
24	POLR2A	chr17:20902503-20902885	A549	lung:	n/a	n/a
25	POLR2A	chr17:20899537-20902909	ECC-1	luminal epithelium:	n/a	n/a
26	CHD2	chr17:20902362-20902741	HepG2	liver:	n/a	n/a
27	POLR2A	chr17:20902531-20902848	A549	lung:	n/a	n/a
28	POLR2A	chr17:20902300-20902890	GM12878	blood:	n/a	n/a
29	POLR2A	chr17:20901100-20902969	HL-60	blood:	n/a	n/a
30	POLR2A	chr17:20899493-20903025	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr17:20900348-20902998	K562	blood:	n/a	n/a
32	POLR2A	chr17:20902357-20902934	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr17:20900309-20902722	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr17:20901174-20902992	K562	blood:	n/a	n/a
35	POLR2A	chr17:20901096-20902968	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr17:20901272-20902752	HCT-116	colon:	n/a	n/a
37	POLR2A	chr17:20901146-20903014	GM12892	blood:	n/a	n/a
38	POLR2A	chr17:20901200-20903533	GM12891	blood:	n/a	n/a
39	POLR2A	chr17:20901321-20906277	GM12892	blood:	n/a	n/a
40	POLR2A	chr17:20901480-20902748	HepG2	liver:	n/a	n/a
41	POLR2A	chr17:20901296-20902890	GM12892	blood:	n/a	n/a
42	POLR2A	chr17:20900939-20902937	H1-hESC	embryonic stem cell:	n/a	n/a
43	POU2F2	chr17:20902484-20902871	GM12891	blood:	n/a	n/a
44	POLR2A	chr17:20900270-20904031	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr17:20899278-20902883	GM12878	blood:	n/a	n/a
46	POLR2A	chr17:20901089-20906927	A549	lung:	n/a	n/a
47	NFATC1	chr17:20900949-20902703	GM12878	blood:	n/a	chr17:20902246-20902259
48	POLR2A	chr17:20901643-20902855	HepG2	liver:	n/a	n/a
49	POLR2A	chr17:20900408-20904082	GM12891	blood:	n/a	n/a
50	POLR2A	chr17:20901593-20902878	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20901201..20904612-chr17:20905901..20908917,4	MCF-7	breast:
2	chr17:20902261..20904753-chr17:20906540..20909495,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263986	TF binding region
ENSG00000124422	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1045215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10512423	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11204325	1.00[CHB][hapmap]
rs11204327	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11204331	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11541311	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11650623	0.81[EUR][1000 genomes]
rs11651078	0.87[AMR][1000 genomes]
rs11651500	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11652224	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11653213	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11653504	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11654801	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11655512	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11655985	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11656525	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11656662	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11656837	0.87[ASN][1000 genomes]
rs11656874	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11657155	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11658178	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11658389	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11658671	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11658722	1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11658742	1.00[CHB][hapmap]
rs11658791	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11869271	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11870338	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs16942330	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16962375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16962469	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2009757	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3785544	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3891644	1.00[CHB][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62056764	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62056765	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62056768	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62056770	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62056771	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62056832	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62058987	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62058990	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62058991	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62058993	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62059000	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62059001	0.81[ASN][1000 genomes]
rs716959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7217797	0.81[CHB][hapmap];0.89[AMR][1000 genomes]
rs7218520	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs8079468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8080233	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9325900	0.84[ASN][1000 genomes]
rs9905095	1.00[CHB][hapmap]
rs9914432	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs9972887	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751619	chr17:20462908-20914156	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv827917	chr17:20896100-20961777	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv960442	chr17:20901168-20903702	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20896400-20902800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr17:20896600-20906800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:20896800-20904200	Weak transcription	Primary T cells from cord blood	blood
4	chr17:20896800-20904800	Weak transcription	Fetal Kidney	kidney
5	chr17:20896800-20905200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:20897000-20902800	Weak transcription	HepG2	liver
7	chr17:20897000-20903400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr17:20897000-20905200	Weak transcription	Fetal Brain Male	brain
9	chr17:20897200-20904600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr17:20898000-20905000	Weak transcription	Hela-S3	cervix
11	chr17:20898400-20902800	Weak transcription	Stomach Mucosa	stomach
12	chr17:20899200-20908600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr17:20899800-20904800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr17:20900000-20903200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr17:20900000-20905000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr17:20900200-20904800	Enhancers	Brain Substantia Nigra	brain
17	chr17:20900200-20924000	Strong transcription	Fetal Stomach	stomach
18	chr17:20900400-20903200	Enhancers	Brain Anterior Caudate	brain
19	chr17:20900400-20904800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr17:20900400-20905200	Enhancers	Brain Angular Gyrus	brain
21	chr17:20900400-20906000	Genic enhancers	Stomach Smooth Muscle	stomach
22	chr17:20900600-20903200	Enhancers	Left Ventricle	heart
23	chr17:20900600-20903400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr17:20900600-20905600	Genic enhancers	Fetal Muscle Leg	muscle
25	chr17:20900600-20907000	Genic enhancers	Fetal Muscle Trunk	muscle
26	chr17:20900600-20932400	Strong transcription	Fetal Intestine Small	intestine
27	chr17:20900800-20903200	Weak transcription	Esophagus	oesophagus
28	chr17:20900800-20925600	Strong transcription	Fetal Brain Female	brain
29	chr17:20900800-20932200	Strong transcription	Brain Germinal Matrix	brain
30	chr17:20901000-20903000	Enhancers	Ovary	ovary
31	chr17:20901000-20903800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr17:20901200-20903200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr17:20901200-20903400	Enhancers	Right Atrium	heart
34	chr17:20901200-20903800	Enhancers	Colon Smooth Muscle	Colon
35	chr17:20901400-20904800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr17:20901400-20905600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr17:20901400-20912200	Strong transcription	Primary B cells from cord blood	blood
38	chr17:20901400-20925200	Strong transcription	Fetal Lung	lung
39	chr17:20901400-20932600	Strong transcription	Thymus	Thymus
40	chr17:20901400-20937000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr17:20901600-20902800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr17:20901600-20902800	Genic enhancers	HSMMtube	muscle
43	chr17:20901600-20903200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr17:20901600-20903200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr17:20901600-20904000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr17:20901600-20904000	Genic enhancers	Right Ventricle	heart
47	chr17:20901600-20905600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr17:20901600-20905800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr17:20901600-20908800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr17:20901800-20903200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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