Variant report

Variant	rs7795834
Chromosome Location	chr7:107886357-107886358
allele	A/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	EP300	chr7:107886125-107887566	A549	lung:	n/a	chr7:107887022-107887036 chr7:107886142-107886156 chr7:107886292-107886306
2	TAF1	chr7:107886256-107886962	A549	lung:	n/a	n/a
3	USF1	chr7:107886337-107887250	A549	lung:	n/a	n/a
4	EP300	chr7:107886254-107887339	ECC-1	luminal epithelium:	n/a	chr7:107887022-107887036 chr7:107886292-107886306
5	TRIM28	chr7:107886335-107887484	K562	blood:	n/a	n/a
6	RCOR1	chr7:107886327-107887295	K562	blood:	n/a	n/a
7	MAX	chr7:107886168-107887682	A549	lung:	n/a	n/a
8	TCF12	chr7:107886357-107887257	ECC-1	luminal epithelium:	n/a	n/a
9	CEBPB	chr7:107886076-107887452	A549	lung:	n/a	chr7:107886144-107886157
10	POLR2A	chr7:107886230-107887143	U87	brain:	n/a	n/a
11	NR2F2	chr7:107886328-107887499	K562	blood:	n/a	chr7:107886916-107886931
12	EP300	chr7:107886302-107887395	A549	lung:	n/a	chr7:107887022-107887036
13	BACH1	chr7:107886143-107887454	K562	blood:	n/a	n/a
14	REST	chr7:107886330-107887287	A549	lung:	n/a	n/a
15	MAX	chr7:107886079-107887723	A549	lung:	n/a	n/a
16	BCL3	chr7:107886072-107887544	A549	lung:	n/a	n/a
17	MAX	chr7:107886354-107887445	A549	lung:	n/a	n/a
18	SMC3	chr7:107886356-107887253	Hela-S3	cervix:	n/a	n/a
19	TBL1XR1	chr7:107886103-107887278	K562	blood:	n/a	n/a
20	TEAD4	chr7:107886215-107887535	K562	blood:	n/a	n/a
21	CEBPB	chr7:107886055-107887314	A549	lung:	n/a	chr7:107886144-107886157
22	POLR2A	chr7:107886248-107887341	HUVEC	blood vessel:	n/a	n/a
23	GATA3	chr7:107886070-107887432	A549	lung:	n/a	chr7:107886968-107886979 chr7:107886885-107886894
24	MAFK	chr7:107886310-107887722	K562	blood:	n/a	chr7:107886888-107886897 chr7:107886890-107886901
25	SP1	chr7:107886093-107887490	A549	lung:	n/a	n/a
26	FOSL2	chr7:107886039-107887485	A549	lung:	n/a	chr7:107886883-107886894 chr7:107886886-107886896 chr7:107886887-107886895 chr7:107886885-107886897 chr7:107887051-107887060 chr7:107886953-107886960 chr7:107886707-107886718 chr7:107886886-107886896
27	CUX1	chr7:107886280-107887848	K562	blood:	n/a	n/a
28	CEBPB	chr7:107886026-107887279	IMR90	lung:	n/a	chr7:107886144-107886157
29	RAD21	chr7:107886349-107887292	A549	lung:	n/a	chr7:107886997-107887009
30	MAFK	chr7:107886251-107887175	IMR90	lung:	n/a	chr7:107886888-107886897 chr7:107886890-107886901
31	TCF12	chr7:107886354-107887337	ECC-1	luminal epithelium:	n/a	n/a
32	TCF12	chr7:107886101-107887525	A549	lung:	n/a	n/a
33	SIX5	chr7:107886048-107887777	A549	lung:	n/a	n/a
34	POLR2A	chr7:107886357-107886803	A549	lung:	n/a	n/a
35	SMARCB1	chr7:107886286-107887312	K562	blood:	n/a	chr7:107886886-107886895
36	TEAD4	chr7:107886314-107887186	K562	blood:	n/a	n/a
37	SP1	chr7:107886239-107887353	A549	lung:	n/a	n/a
38	MAFF	chr7:107886334-107887745	K562	blood:	n/a	chr7:107886953-107886971
39	CBX3	chr7:107886220-107887543	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:107885403..107887866-chr7:108208741..108211380,3	K562	blood:
2	chr7:107885138..107886888-chr7:108093240..108094894,2	K562	blood:
3	chr7:107844217..107846862-chr7:107884511..107886903,2	K562	blood:
4	chr7:107880432..107884512-chr7:107884667..107887859,3	MCF-7	breast:
5	chr7:107885764..107888071-chr7:107990459..107993788,3	MCF-7	breast:
6	chr7:107883815..107886718-chr7:108095136..108097625,2	MCF-7	breast:
7	chr7:107885444..107889446-chr7:107936320..107941216,4	MCF-7	breast:

Variant related genes	Relation type
NRCAM	TF binding region
ENSG00000177683	Chromatin interaction
ENSG00000128590	Chromatin interaction
ENSG00000091129	Chromatin interaction
ENSG00000135241	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10487842	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10487843	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10953560	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11978605	0.82[ASN][1000 genomes]
rs11980184	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11980771	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11984362	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12531607	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap]
rs12534073	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12534706	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12536606	0.96[EUR][1000 genomes]
rs12538125	0.88[ASW][hapmap];0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1269639	0.92[JPT][hapmap]
rs12705439	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13228054	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13228675	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13231463	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13237289	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13242621	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13245910	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13247108	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1548950	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17155187	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17155196	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17155335	0.95[CEU][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs17331230	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2111203	1.00[CEU][hapmap];0.96[GIH][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2191046	0.83[EUR][1000 genomes]
rs2193252	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2193253	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2193254	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2267876	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2267877	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2267878	0.88[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2272617	0.88[ASW][hapmap];0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2284284	0.81[CEU][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs2299992	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2299996	0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2299999	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2300000	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2300002	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34723270	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34754517	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55643449	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67133820	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6958333	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6964282	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6977003	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6980041	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71568512	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73199565	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776972	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7783282	0.84[AMR][1000 genomes]
rs7784186	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7789291	0.95[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7796675	0.83[EUR][1000 genomes]
rs7809003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7795834	RINT1	cis	parietal	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107830400-107886400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr7:107860600-107886600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:107871200-107886400	Weak transcription	Brain Anterior Caudate	brain
4	chr7:107876400-107886400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:107877800-107886400	Weak transcription	Pancreas	Pancrea
6	chr7:107880600-107887000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:107880800-107886600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:107881200-107886400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:107881200-107886400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:107881200-107886400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:107881200-107886400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:107881200-107886600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:107881800-107886400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:107883600-107886800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:107884800-107886400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:107884800-107886400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:107884800-107886400	Weak transcription	Fetal Intestine Small	intestine
18	chr7:107884800-107890600	Weak transcription	Brain Substantia Nigra	brain
19	chr7:107885200-107886400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:107885200-107886400	Enhancers	K562	blood
21	chr7:107885400-107886400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:107885400-107886400	Weak transcription	Fetal Intestine Large	intestine
23	chr7:107885600-107887000	Enhancers	HSMM	muscle
24	chr7:107885600-107888400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr7:107885600-107889400	Enhancers	Osteobl	bone
26	chr7:107885800-107886400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr7:107885800-107887600	Flanking Active TSS	A549	lung
28	chr7:107885800-107887600	Enhancers	NHLF	lung
29	chr7:107885800-107888400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:107886000-107886400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:107886000-107887600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr7:107886000-107891200	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr7:107886200-107886400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:107886200-107886400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:107886200-107886400	Enhancers	HSMMtube	muscle
36	chr7:107886200-107886600	Flanking Active TSS	NH-A	brain
37	chr7:107886200-107886800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:107886200-107886800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:107886200-107886800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:107886200-107886800	Flanking Active TSS	NHDF-Ad	bronchial
41	chr7:107886200-107887400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:107886200-107887400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr7:107886200-107887600	Enhancers	Hela-S3	cervix
44	chr7:107886200-107887800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:107886200-107889400	Enhancers	HMEC	breast
46	chr7:107886200-107889600	Enhancers	HUVEC	blood vessel

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