Variant report

Variant	rs1077122
Chromosome Location	chr7:150808278-150808279
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	CTCF	chr7:150808240-150808390	GM12871	blood:	n/a	chr7:150808314-150808332 chr7:150808316-150808329 chr7:150808309-150808330
2	FOXP2	chr7:150808180-150808472	PFSK-1	brain:	n/a	n/a
3	FOXM1	chr7:150808129-150808526	GM12878	blood:	n/a	n/a
4	CTCF	chr7:150808184-150808481	MCF-7	breast:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
5	POLR2A	chr7:150808103-150808502	K562	blood:	n/a	n/a
6	CTCF	chr7:150808197-150808501	GM10266	blood:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
7	ZNF263	chr7:150806480-150808544	HEK293-T-REx	kidney:	n/a	chr7:150807263-150807272
8	CTCF	chr7:150808260-150808410	HCPEpiC	choroid plexus:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
9	CTCF	chr7:150808260-150808410	Caco-2	colon:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
10	SIN3AK20	chr7:150808134-150808524	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr7:150808260-150808410	GM12878	blood:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
12	CTCF	chr7:150808240-150808390	HCT-116	colon:	n/a	chr7:150808314-150808332 chr7:150808316-150808329 chr7:150808309-150808330
13	RAD21	chr7:150807981-150808636	A549	lung:	n/a	chr7:150808511-150808523 chr7:150808312-150808331 chr7:150808555-150808564
14	CTCF	chr7:150808160-150808310	HFF	foreskin:	n/a	n/a
15	CTCF	chr7:150808260-150808410	HMF	breast:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
16	CTCF	chr7:150808260-150808410	AG10803	skin:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
17	RAD21	chr7:150808056-150808539	ECC-1	luminal epithelium:	n/a	chr7:150808511-150808523 chr7:150808312-150808331
18	CTCF	chr7:150808107-150808569	GM12878	blood:	n/a	chr7:150808314-150808332 chr7:150808508-150808521 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
19	WRNIP1	chr7:150808238-150808439	GM12878	blood:	n/a	n/a
20	MAZ	chr7:150808230-150808404	HepG2	liver:	n/a	n/a
21	CTCF	chr7:150807785-150808729	SK-N-SH	brain:	n/a	chr7:150808314-150808332 chr7:150808508-150808521 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
22	CTCF	chr7:150808260-150808410	AG09319	gingival:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
23	CTCF	chr7:150808260-150808410	SK-N-SH_RA	brain:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
24	CTCF	chr7:150808240-150808390	GM12865	blood:	n/a	chr7:150808314-150808332 chr7:150808316-150808329 chr7:150808309-150808330
25	RAD21	chr7:150808031-150808576	IMR90	lung:	n/a	chr7:150808511-150808523 chr7:150808312-150808331 chr7:150808555-150808564
26	RUNX3	chr7:150808088-150808517	GM12878	blood:	n/a	n/a
27	CTCF	chr7:150808260-150808410	HPF	lung:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
28	TBP	chr7:150808206-150808404	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr7:150808240-150808390	GM12866	blood:	n/a	chr7:150808314-150808332 chr7:150808316-150808329 chr7:150808309-150808330
30	CTCF	chr7:150808173-150808508	GM19239	blood:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
31	RAD21	chr7:150808099-150808527	H1-hESC	embryonic stem cell:	n/a	chr7:150808511-150808523 chr7:150808312-150808331
32	CEBPB	chr7:150808247-150808413	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr7:150808043-150808574	A549	lung:	n/a	chr7:150808499-150808508 chr7:150808498-150808509 chr7:150808497-150808510 chr7:150808498-150808509 chr7:150808499-150808509 chr7:150808499-150808508 chr7:150808498-150808508 chr7:150808499-150808508
34	CTCF	chr7:150808260-150808410	HBMEC	blood vessel:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
35	CTCF	chr7:150808240-150808390	NHDF-neo	bronchial:	n/a	chr7:150808314-150808332 chr7:150808316-150808329 chr7:150808309-150808330
36	CTCF	chr7:150808140-150808388	A549	lung:	n/a	chr7:150808314-150808332 chr7:150808316-150808329 chr7:150808309-150808330
37	CTCF	chr7:150808178-150808504	Gliobla	brain:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
38	CTCFL	chr7:150808232-150808392	K562	blood:	n/a	n/a
39	RUNX3	chr7:150808137-150808521	GM12878	blood:	n/a	n/a
40	CHD2	chr7:150808162-150808438	Hela-S3	cervix:	n/a	n/a
41	EGR1	chr7:150808106-150808483	H1-hESC	embryonic stem cell:	n/a	chr7:150808115-150808125 chr7:150808116-150808126
42	CTCF	chr7:150808240-150808390	WERI-Rb-1	eye:	n/a	chr7:150808314-150808332 chr7:150808316-150808329 chr7:150808309-150808330
43	ZNF143	chr7:150808172-150808473	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr7:150808240-150808390	BE2_C	brain:	n/a	chr7:150808314-150808332 chr7:150808316-150808329 chr7:150808309-150808330
45	POLR2A	chr7:150807712-150808527	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr7:150808165-150808509	GM19240	blood:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
47	CTCF	chr7:150808240-150808390	GM12873	blood:	n/a	chr7:150808314-150808332 chr7:150808316-150808329 chr7:150808309-150808330
48	RAD21	chr7:150807907-150808731	HCT-116	colon:	n/a	chr7:150808511-150808523 chr7:150808312-150808331 chr7:150808555-150808564
49	STAT5A	chr7:150808080-150808379	GM12878	blood:	n/a	chr7:150808112-150808124
50	STAT1	chr7:150808209-150808500	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150784550..150785319-chr7:150808021..150808851,2	MCF-7	breast:
2	chr7:150709574..150710550-chr7:150807803..150808799,4	MCF-7	breast:
3	chr7:150807803..150810009-chr7:150811928..150814974,4	MCF-7	breast:
4	chr7:150788184..150788855-chr7:150807817..150808798,5	MCF-7	breast:
5	chr7:150725454..150726330-chr7:150807857..150808416,4	K562	blood:
6	chr7:150729668..150730663-chr7:150807838..150808368,2	K562	blood:
7	chr7:150773709..150774601-chr7:150807843..150808759,3	MCF-7	breast:
8	chr7:150807868..150808384-chr7:150869377..150870234,2	K562	blood:
9	chr7:150805011..150810412-chr7:150810806..150815520,8	K562	blood:
10	chr7:150784397..150785064-chr7:150807380..150808355,2	MCF-7	breast:
11	chr7:150710016..150711023-chr7:150807320..150808378,4	K562	blood:
12	chr7:150725081..150726362-chr7:150807825..150808708,6	MCF-7	breast:
13	chr7:150796066..150796621-chr7:150807803..150808315,2	K562	blood:
14	chr7:150754159..150754844-chr7:150807862..150808381,2	K562	blood:
15	chr7:150685505..150686204-chr7:150807873..150808428,2	MCF-7	breast:
16	chr7:150682955..150683715-chr7:150807833..150808490,2	K562	blood:
17	chr7:150805011..150809604-chr7:150809683..150814673,8	K562	blood:
18	chr7:150685677..150686197-chr7:150807863..150808771,3	K562	blood:
19	chr7:150661260..150662021-chr7:150807561..150808365,2	K562	blood:
20	chr7:150788167..150789084-chr7:150808052..150808593,2	MCF-7	breast:
21	chr7:150475546..150476472-chr7:150808169..150808775,2	K562	blood:
22	chr7:150806359..150808651-chr7:150915357..150918189,2	K562	blood:
23	chr7:150660003..150661126-chr7:150807869..150808616,4	K562	blood:
24	chr7:150806408..150808627-chr7:150809184..150811009,2	MCF-7	breast:
25	chr7:150595552..150596160-chr7:150807947..150808760,2	K562	blood:
26	chr7:150756739..150757952-chr7:150807848..150809287,3	MCF-7	breast:

Variant related genes	Relation type
AGAP3	TF binding region
ENSG00000164889	Chromatin interaction
ENSG00000164896	Chromatin interaction
ENSG00000197150	Chromatin interaction
ENSG00000133612	Chromatin interaction
ENSG00000164885	Chromatin interaction
ENSG00000181652	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10085680	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10244332	0.88[EUR][1000 genomes]
rs10273337	0.88[EUR][1000 genomes]
rs1036061	0.88[EUR][1000 genomes]
rs1036062	0.88[EUR][1000 genomes]
rs10952301	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10952302	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34710456	1.00[ASN][1000 genomes]
rs4236428	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4725389	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4725988	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4725989	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4725992	0.89[EUR][1000 genomes]
rs4725993	0.87[EUR][1000 genomes]
rs6464129	0.86[EUR][1000 genomes]
rs6945607	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6951528	0.82[EUR][1000 genomes]
rs6957724	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6970547	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6970773	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7385751	0.84[EUR][1000 genomes]
rs749320	0.88[EUR][1000 genomes]
rs7806979	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs891510	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
3	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
4	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
5	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
6	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
8	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
9	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
11	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
12	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
13	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
14	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150785000-150812000	Weak transcription	Aorta	Aorta
2	chr7:150786400-150808400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:150789000-150815400	Weak transcription	GM12878-XiMat	blood
4	chr7:150792600-150810200	Weak transcription	Esophagus	oesophagus
5	chr7:150794000-150808800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:150797000-150808400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:150797400-150810200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:150799000-150811200	Weak transcription	Right Atrium	heart
9	chr7:150802200-150810000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:150802200-150810200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:150802200-150810600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:150802400-150810600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:150802600-150821400	Weak transcription	Hela-S3	cervix
14	chr7:150802800-150810200	Weak transcription	HUVEC	blood vessel
15	chr7:150803200-150810000	Weak transcription	NH-A	brain
16	chr7:150803800-150810400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:150804000-150810200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:150804600-150808400	Enhancers	Adipose Nuclei	Adipose
19	chr7:150805000-150808600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:150805600-150808600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr7:150805800-150808600	Enhancers	HSMM	muscle
22	chr7:150805800-150809000	Enhancers	Fetal Muscle Trunk	muscle
23	chr7:150806000-150808400	Enhancers	K562	blood
24	chr7:150806200-150809000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:150806200-150809200	Weak transcription	HepG2	liver
26	chr7:150806200-150810400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr7:150806400-150808600	Enhancers	NHLF	lung
28	chr7:150806400-150810200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:150806600-150808600	Enhancers	Placenta	Placenta
30	chr7:150806800-150808600	Enhancers	Brain Cingulate Gyrus	brain
31	chr7:150806800-150810200	Weak transcription	Osteobl	bone
32	chr7:150807000-150808600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr7:150807000-150810400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:150807200-150808400	Enhancers	Duodenum Mucosa	Duodenum
35	chr7:150807200-150809200	Genic enhancers	Fetal Stomach	stomach
36	chr7:150807200-150809600	Enhancers	Stomach Mucosa	stomach
37	chr7:150807200-150810600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr7:150807400-150808400	Strong transcription	Fetal Intestine Small	intestine
39	chr7:150807400-150808600	Enhancers	Brain Hippocampus Middle	brain
40	chr7:150807400-150808600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:150807400-150808600	Enhancers	Lung	lung
42	chr7:150807400-150808600	Enhancers	Spleen	Spleen
43	chr7:150807400-150808800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:150807400-150809800	Enhancers	Fetal Heart	heart
45	chr7:150807400-150811000	Enhancers	Pancreas	Pancrea
46	chr7:150807600-150808400	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr7:150807600-150808600	Enhancers	Brain Angular Gyrus	brain
48	chr7:150807600-150808600	Enhancers	Brain Substantia Nigra	brain
49	chr7:150807600-150809000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:150807800-150808400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin

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