Variant report

Variant	rs743506
Chromosome Location	chr7:150706915-150706916
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	CCNT2	chr7:150706484-150706915	K562	blood:	n/a	n/a
2	CTCF	chr7:150706403-150706966	K562	blood:	n/a	n/a
3	GATA1	chr7:150703848-150708627	K562	blood:	n/a	chr7:150705784-150705791 chr7:150705782-150705792 chr7:150705781-150705793 chr7:150704454-150704464 chr7:150705782-150705791
4	POLR2A	chr7:150706615-150708272	K562	blood:	n/a	n/a
5	TBP	chr7:150706598-150708408	K562	blood:	n/a	n/a
6	HEY1	chr7:150706688-150707266	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:150706423-150706955	HCT-116	colon:	n/a	n/a
8	YY1	chr7:150706478-150706940	K562	blood:	n/a	n/a
9	POLR2A	chr7:150706649-150708456	K562	blood:	n/a	n/a
10	TEAD4	chr7:150704818-150706970	K562	blood:	n/a	n/a
11	NR2F2	chr7:150704477-150708592	K562	blood:	n/a	n/a
12	CTCF	chr7:150705524-150707108	HCT-116	colon:	n/a	n/a
13	POLR2A	chr7:150706404-150707405	HepG2	liver:	n/a	n/a
14	CTCF	chr7:150705167-150706983	K562	blood:	n/a	n/a
15	RAD21	chr7:150705344-150707224	HCT-116	colon:	n/a	chr7:150706818-150706831 chr7:150706817-150706829
16	CBX3	chr7:150704584-150707060	K562	blood:	n/a	n/a
17	POLR2A	chr7:150705122-150708335	K562	blood:	n/a	n/a
18	POLR2A	chr7:150706790-150707129	HepG2	liver:	n/a	n/a
19	POLR2A	chr7:150705134-150707155	K562	blood:	n/a	n/a
20	POLR2A	chr7:150706781-150708510	K562	blood:	n/a	n/a
21	MAX	chr7:150705593-150707286	HepG2	liver:	n/a	chr7:150706433-150706443
22	ELF1	chr7:150706424-150707009	K562	blood:	n/a	n/a
23	POLR2A	chr7:150705185-150707155	K562	blood:	n/a	n/a
24	MAZ	chr7:150704780-150708264	K562	blood:	n/a	chr7:150706433-150706443
25	POLR2A	chr7:150705157-150708493	K562	blood:	n/a	n/a
26	MAX	chr7:150704941-150708585	K562	blood:	n/a	chr7:150706433-150706443
27	JUND	chr7:150706901-150707014	K562	blood:	n/a	n/a
28	EGR1	chr7:150705598-150706975	K562	blood:	n/a	chr7:150706433-150706443 chr7:150706372-150706387 chr7:150706433-150706446 chr7:150706373-150706386 chr7:150706376-150706386 chr7:150706373-150706386
29	HEY1	chr7:150705156-150706961	K562	blood:	n/a	n/a
30	POLR2A	chr7:150705134-150708525	K562	blood:	n/a	n/a
31	MYC	chr7:150705186-150707048	K562	blood:	n/a	chr7:150706433-150706443
32	CTCF	chr7:150705603-150707136	K562	blood:	n/a	n/a
33	ETS1	chr7:150706452-150706991	K562	blood:	n/a	n/a
34	E2F6	chr7:150705298-150707012	K562	blood:	n/a	chr7:150706265-150706274 chr7:150706429-150706441 chr7:150705402-150705411 chr7:150706262-150706274
35	ZBTB7A	chr7:150705715-150706949	K562	blood:	n/a	n/a
36	MYC	chr7:150705110-150708405	K562	blood:	n/a	chr7:150706433-150706443
37	POLR2A	chr7:150706898-150708410	K562	blood:	n/a	n/a
38	POLR2A	chr7:150706764-150707208	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150705619..150708029-chr7:150714028..150715967,2	MCF-7	breast:
2	chr7:150706188..150708123-chr7:150710621..150712135,2	MCF-7	breast:
3	chr7:150705881..150707323-chr7:150714964..150716387,6	K562	blood:

Variant related genes	Relation type
NOS3	TF binding region
ENSG00000181652	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1808593	0.85[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2256314	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs743507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs891512	0.87[CEU][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
3	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
8	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
9	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
10	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv889471	chr7:150700946-150751590	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	esv274999	chr7:150701010-150708089	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	nsv889472	chr7:150703414-150707837	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv609003	chr7:150703915-150708035	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv609004	chr7:150703915-150708089	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv609005	chr7:150704400-150708035	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv609006	chr7:150704400-150708089	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv889473	chr7:150705413-150709571	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv609007	chr7:150705842-150708089	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv889474	chr7:150705842-150717153	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	nsv609008	chr7:150705926-150708035	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	nsv609009	chr7:150705926-150708089	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
24	nsv609010	chr7:150706383-150708089	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150703600-150708200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr7:150704200-150707200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:150704400-150707200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:150704600-150707000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:150704800-150708000	Enhancers	Primary hematopoietic stem cells	blood
6	chr7:150705000-150711000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr7:150705200-150708400	Enhancers	Fetal Heart	heart
8	chr7:150705600-150708000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:150705800-150707400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:150705800-150707600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:150705800-150707600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:150705800-150708200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:150705800-150708400	Enhancers	Fetal Lung	lung
14	chr7:150705800-150710800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:150705800-150711000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:150706000-150707000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:150706000-150707000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:150706000-150707200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:150706000-150707400	Enhancers	Fetal Intestine Large	intestine
20	chr7:150706000-150707400	Weak transcription	Fetal Kidney	kidney
21	chr7:150706000-150707600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:150706000-150707600	Weak transcription	Brain Anterior Caudate	brain
23	chr7:150706000-150707600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr7:150706000-150707600	Enhancers	Fetal Intestine Small	intestine
25	chr7:150706000-150707600	Bivalent Enhancer	Fetal Stomach	stomach
26	chr7:150706000-150707600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:150706000-150708000	Weak transcription	Gastric	stomach
28	chr7:150706000-150708200	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr7:150706000-150708200	Bivalent Enhancer	Fetal Thymus	thymus
30	chr7:150706000-150709600	Genic enhancers	Placenta	Placenta
31	chr7:150706000-150709600	Weak transcription	Pancreas	Pancrea
32	chr7:150706000-150710200	Weak transcription	Brain Angular Gyrus	brain
33	chr7:150706000-150710200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr7:150706000-150710800	Weak transcription	Left Ventricle	heart
35	chr7:150706000-150711000	Enhancers	Primary T cells from cord blood	blood
36	chr7:150706000-150711000	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr7:150706000-150711000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr7:150706200-150707000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr7:150706200-150707000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr7:150706200-150707200	Weak transcription	HMEC	breast
41	chr7:150706200-150707400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr7:150706200-150707400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:150706200-150707400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr7:150706200-150707600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr7:150706200-150707600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr7:150706200-150707600	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr7:150706200-150707600	Enhancers	Spleen	Spleen
48	chr7:150706200-150707600	Weak transcription	NH-A	brain
49	chr7:150706200-150707800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr7:150706200-150709000	Weak transcription	Rectal Mucosa Donor 31	rectum

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