Variant report

Variant	rs1808593
Chromosome Location	chr7:150708302-150708303
allele	G/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	MAX	chr7:150707417-150708427	HepG2	liver:	n/a	n/a
2	GATA1	chr7:150703848-150708627	K562	blood:	n/a	chr7:150705784-150705791 chr7:150705782-150705792 chr7:150705781-150705793 chr7:150704454-150704464 chr7:150705782-150705791
3	TBP	chr7:150706598-150708408	K562	blood:	n/a	n/a
4	MAX	chr7:150707595-150708362	K562	blood:	n/a	n/a
5	POLR2A	chr7:150707507-150708503	HepG2	liver:	n/a	n/a
6	PML	chr7:150707345-150708470	K562	blood:	n/a	n/a
7	USF1	chr7:150707841-150708305	K562	blood:	n/a	n/a
8	POLR2A	chr7:150707407-150708483	K562	blood:	n/a	n/a
9	POLR2A	chr7:150706649-150708456	K562	blood:	n/a	n/a
10	NR2F2	chr7:150704477-150708592	K562	blood:	n/a	n/a
11	MAX	chr7:150707398-150708465	K562	blood:	n/a	n/a
12	TRIM28	chr7:150707310-150708348	K562	blood:	n/a	n/a
13	POLR2A	chr7:150705122-150708335	K562	blood:	n/a	n/a
14	UBTF	chr7:150708302-150708332	K562	blood:	n/a	n/a
15	POLR2A	chr7:150706781-150708510	K562	blood:	n/a	n/a
16	MYC	chr7:150707370-150708403	K562	blood:	n/a	n/a
17	POLR2A	chr7:150707400-150708455	K562	blood:	n/a	n/a
18	CBX3	chr7:150707102-150708607	K562	blood:	n/a	n/a
19	ETS1	chr7:150707259-150708315	K562	blood:	n/a	chr7:150708275-150708288
20	MYC	chr7:150707437-150708465	K562	blood:	n/a	n/a
21	HEY1	chr7:150707425-150708439	K562	blood:	n/a	n/a
22	POLR2A	chr7:150705157-150708493	K562	blood:	n/a	n/a
23	MAX	chr7:150704941-150708585	K562	blood:	n/a	chr7:150706433-150706443
24	JUND	chr7:150707356-150708324	K562	blood:	n/a	n/a
25	POLR2A	chr7:150705134-150708525	K562	blood:	n/a	n/a
26	ELF1	chr7:150707111-150708317	K562	blood:	n/a	n/a
27	YY1	chr7:150707305-150708351	K562	blood:	n/a	n/a
28	SIN3AK20	chr7:150707398-150708395	K562	blood:	n/a	n/a
29	MYC	chr7:150705110-150708405	K562	blood:	n/a	chr7:150706433-150706443
30	NR2F2	chr7:150707340-150708414	K562	blood:	n/a	n/a
31	POLR2A	chr7:150706898-150708410	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150703619..150706319-chr7:150708116..150709799,2	MCF-7	breast:

Variant related genes	Relation type
NOS3	TF binding region
ENSG00000164867	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2256314	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs743506	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]
rs743507	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]
rs753482	0.80[AMR][1000 genomes]
rs891512	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150705000-150711000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr7:150705200-150708400	Enhancers	Fetal Heart	heart
3	chr7:150705800-150708400	Enhancers	Fetal Lung	lung
4	chr7:150705800-150710800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:150705800-150711000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:150706000-150709600	Genic enhancers	Placenta	Placenta
7	chr7:150706000-150709600	Weak transcription	Pancreas	Pancrea
8	chr7:150706000-150710200	Weak transcription	Brain Angular Gyrus	brain
9	chr7:150706000-150710200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:150706000-150710800	Weak transcription	Left Ventricle	heart
11	chr7:150706000-150711000	Enhancers	Primary T cells from cord blood	blood
12	chr7:150706000-150711000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr7:150706000-150711000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr7:150706200-150709000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:150706200-150710000	Weak transcription	Brain Substantia Nigra	brain
16	chr7:150706200-150710200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr7:150706200-150710400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr7:150706200-150710800	Weak transcription	Right Atrium	heart
19	chr7:150706400-150710200	Weak transcription	Right Ventricle	heart
20	chr7:150706600-150708400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr7:150706800-150710600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:150707000-150708400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:150707000-150708400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr7:150707200-150708400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:150707200-150708400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:150707400-150708400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:150707400-150708400	Enhancers	Duodenum Mucosa	Duodenum
28	chr7:150707400-150708400	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr7:150707600-150708400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
30	chr7:150707600-150708400	Flanking Active TSS	Fetal Intestine Small	intestine
31	chr7:150707600-150708400	Genic enhancers	Spleen	Spleen
32	chr7:150707600-150708600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr7:150707600-150711000	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr7:150707800-150708400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr7:150707800-150708400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:150707800-150708400	Bivalent Enhancer	Adipose Nuclei	Adipose
37	chr7:150707800-150708400	Bivalent Enhancer	Stomach Mucosa	stomach
38	chr7:150707800-150710800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr7:150707800-150714200	Weak transcription	Dnd41	blood
40	chr7:150708000-150708400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:150708000-150708400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:150708000-150708400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:150708000-150708400	Enhancers	Lung	lung
44	chr7:150708000-150709000	Weak transcription	HUVEC	blood vessel
45	chr7:150708000-150709400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr7:150708000-150709400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:150708000-150709400	Weak transcription	Esophagus	oesophagus
48	chr7:150708000-150709600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr7:150708000-150709800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:150708000-150710000	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links