Variant report

Variant	rs743507
Chromosome Location	chr7:150707488-150707489
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:76)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:76 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2B	chr7:150707405-150707957	K562	blood:	n/a	n/a
2	MAFK	chr7:150707416-150707708	K562	blood:	n/a	n/a
3	TAF1	chr7:150707435-150708200	K562	blood:	n/a	n/a
4	YY1	chr7:150707143-150708184	K562	blood:	n/a	n/a
5	MAX	chr7:150707417-150708427	HepG2	liver:	n/a	n/a
6	RCOR1	chr7:150707374-150707882	K562	blood:	n/a	n/a
7	GATA1	chr7:150703848-150708627	K562	blood:	n/a	chr7:150705784-150705791 chr7:150705782-150705792 chr7:150705781-150705793 chr7:150704454-150704464 chr7:150705782-150705791
8	POLR2A	chr7:150706615-150708272	K562	blood:	n/a	n/a
9	RCOR1	chr7:150707231-150708161	K562	blood:	n/a	n/a
10	TBP	chr7:150706598-150708408	K562	blood:	n/a	n/a
11	E2F6	chr7:150707431-150707836	K562	blood:	n/a	n/a
12	TEAD4	chr7:150707070-150708234	K562	blood:	n/a	n/a
13	PML	chr7:150707345-150708470	K562	blood:	n/a	n/a
14	SP1	chr7:150707283-150707759	K562	blood:	n/a	n/a
15	POLR2A	chr7:150707478-150707766	HCT-116	colon:	n/a	n/a
16	E2F6	chr7:150707472-150708255	K562	blood:	n/a	n/a
17	ZBTB7A	chr7:150706932-150708211	K562	blood:	n/a	chr7:150707050-150707058
18	CHD2	chr7:150707430-150707989	K562	blood:	n/a	n/a
19	SP1	chr7:150707345-150707711	H1-hESC	embryonic stem cell:	n/a	n/a
20	SP1	chr7:150707267-150707742	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZBTB7A	chr7:150706956-150708146	K562	blood:	n/a	chr7:150707050-150707058
22	POLR2A	chr7:150707407-150708483	K562	blood:	n/a	n/a
23	POLR2A	chr7:150706649-150708456	K562	blood:	n/a	n/a
24	HCFC1	chr7:150707450-150708000	K562	blood:	n/a	n/a
25	NR2F2	chr7:150704477-150708592	K562	blood:	n/a	n/a
26	TBL1XR1	chr7:150707333-150708151	K562	blood:	n/a	n/a
27	MAX	chr7:150707398-150708465	K562	blood:	n/a	n/a
28	SP1	chr7:150707215-150707833	A549	lung:	n/a	n/a
29	HDAC2	chr7:150707206-150707771	K562	blood:	n/a	chr7:150707468-150707476
30	HEY1	chr7:150707420-150708184	HepG2	liver:	n/a	n/a
31	IRF1	chr7:150707392-150707756	K562	blood:	n/a	n/a
32	HMGN3	chr7:150707130-150708126	K562	blood:	n/a	n/a
33	TRIM28	chr7:150707310-150708348	K562	blood:	n/a	n/a
34	TEAD4	chr7:150707309-150707791	H1-hESC	embryonic stem cell:	n/a	n/a
35	ELF1	chr7:150707442-150708142	K562	blood:	n/a	n/a
36	POLR2A	chr7:150705122-150708335	K562	blood:	n/a	n/a
37	POLR2A	chr7:150706781-150708510	K562	blood:	n/a	n/a
38	POLR2A	chr7:150707338-150707927	K562	blood:	n/a	n/a
39	MYC	chr7:150707370-150708403	K562	blood:	n/a	n/a
40	POLR2A	chr7:150707400-150708455	K562	blood:	n/a	n/a
41	CBX3	chr7:150707102-150708607	K562	blood:	n/a	n/a
42	JUND	chr7:150707432-150707631	H1-hESC	embryonic stem cell:	n/a	n/a
43	TEAD4	chr7:150707297-150707795	K562	blood:	n/a	n/a
44	BHLHE40	chr7:150707405-150708222	K562	blood:	n/a	n/a
45	MYC	chr7:150707429-150708265	K562	blood:	n/a	n/a
46	ETS1	chr7:150707259-150708315	K562	blood:	n/a	chr7:150708275-150708288
47	MYC	chr7:150707437-150708465	K562	blood:	n/a	n/a
48	HEY1	chr7:150707425-150708439	K562	blood:	n/a	n/a
49	SMC3	chr7:150707409-150707819	K562	blood:	n/a	chr7:150707461-150707471
50	MAZ	chr7:150704780-150708264	K562	blood:	n/a	chr7:150706433-150706443

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150705619..150708029-chr7:150714028..150715967,2	MCF-7	breast:
2	chr7:150706188..150708123-chr7:150710621..150712135,2	MCF-7	breast:

No data

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

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1808593	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2256314	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs743506	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]
rs753482	0.80[AMR][1000 genomes]
rs891512	0.87[CEU][hapmap];0.81[GIH][hapmap];0.83[AMR][1000 genomes];0.84[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:93 , 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	chr7:150704800-150708000	Enhancers	Primary hematopoietic stem cells	blood
3	chr7:150705000-150711000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr7:150705200-150708400	Enhancers	Fetal Heart	heart
5	chr7:150705600-150708000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:150705800-150707600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:150705800-150707600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:150705800-150708200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:150705800-150708400	Enhancers	Fetal Lung	lung
10	chr7:150705800-150710800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:150705800-150711000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:150706000-150707600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:150706000-150707600	Weak transcription	Brain Anterior Caudate	brain
14	chr7:150706000-150707600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr7:150706000-150707600	Enhancers	Fetal Intestine Small	intestine
16	chr7:150706000-150707600	Bivalent Enhancer	Fetal Stomach	stomach
17	chr7:150706000-150707600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:150706000-150708000	Weak transcription	Gastric	stomach
19	chr7:150706000-150708200	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr7:150706000-150708200	Bivalent Enhancer	Fetal Thymus	thymus
21	chr7:150706000-150709600	Genic enhancers	Placenta	Placenta
22	chr7:150706000-150709600	Weak transcription	Pancreas	Pancrea
23	chr7:150706000-150710200	Weak transcription	Brain Angular Gyrus	brain
24	chr7:150706000-150710200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:150706000-150710800	Weak transcription	Left Ventricle	heart
26	chr7:150706000-150711000	Enhancers	Primary T cells from cord blood	blood
27	chr7:150706000-150711000	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr7:150706000-150711000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr7:150706200-150707600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr7:150706200-150707600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr7:150706200-150707600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr7:150706200-150707600	Enhancers	Spleen	Spleen
33	chr7:150706200-150707600	Weak transcription	NH-A	brain
34	chr7:150706200-150707800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr7:150706200-150709000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:150706200-150710000	Weak transcription	Brain Substantia Nigra	brain
37	chr7:150706200-150710200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr7:150706200-150710400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr7:150706200-150710800	Weak transcription	Right Atrium	heart
40	chr7:150706400-150707800	Weak transcription	Primary B cells from cord blood	blood
41	chr7:150706400-150707800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr7:150706400-150707800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr7:150706400-150707800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:150706400-150708200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:150706400-150710200	Weak transcription	Right Ventricle	heart
46	chr7:150706600-150707600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:150706600-150707600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:150706600-150707800	Enhancers	Lung	lung
49	chr7:150706600-150708200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:150706600-150708400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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