Variant report

Variant	rs10401695
Chromosome Location	chr19:36160834-36160835
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36153170..36155619-chr19:36159391..36161425,2	MCF-7	breast:
2	chr19:36159215..36161380-chr19:36163087..36164675,2	K562	blood:

Variant related genes	Relation type
ENSG00000266455	Chromatin interaction
ENSG00000226510	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs120960	0.83[MEX][hapmap];0.81[TSI][hapmap]
rs2285414	0.84[CEU][hapmap]
rs231236	0.83[MEX][hapmap]
rs3746272	1.00[CHB][hapmap]
rs4806187	0.86[GIH][hapmap];0.85[TSI][hapmap]
rs807485	1.00[CHB][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap]
rs8110747	0.92[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv543995	chr19:36139204-36203592	Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
6	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
7	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
8	esv3375418	chr19:36160337-36162885	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv3519951	chr19:36160612-36162660	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	esv3519954	chr19:36160612-36162660	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs10401695	COX6B1	trans	cerebellum	SCAN
rs10401695	COX6B1	cis	Muscle Skeletal	GTEx
rs10401695	RN7SL765P	cis	Muscle Skeletal	GTEx
rs10401695	ZBTB32	cis	Thyroid	GTEx
rs10401695	ZBTB32	cis	lung	GTEx
rs10401695	UPK1A	trans	cerebellum	SCAN
rs10401695	ZBTB32	cis	Nerve Tibial	GTEx
rs10401695	AC002398.13	cis	Thyroid	GTEx
rs10401695	COX6B1	trans	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36140400-36164000	Weak transcription	Right Atrium	heart
2	chr19:36149600-36164000	Weak transcription	HMEC	breast
3	chr19:36149800-36161600	Weak transcription	Osteobl	bone
4	chr19:36149800-36163400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr19:36152600-36161000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr19:36152800-36162600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:36153000-36164000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:36155400-36161000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:36155600-36164000	Weak transcription	HSMM	muscle
10	chr19:36156200-36164000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:36156600-36164200	Weak transcription	Gastric	stomach
12	chr19:36156800-36161000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr19:36156800-36164000	Weak transcription	Spleen	Spleen
14	chr19:36157200-36164000	Weak transcription	Esophagus	oesophagus
15	chr19:36157400-36164200	Weak transcription	Right Ventricle	heart
16	chr19:36157600-36161800	Weak transcription	Thymus	Thymus
17	chr19:36157800-36164000	Weak transcription	Pancreas	Pancrea
18	chr19:36159600-36164000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:36160000-36163800	Enhancers	HepG2	liver
20	chr19:36160600-36161000	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr19:36160600-36161200	Enhancers	Fetal Intestine Small	intestine
22	chr19:36160800-36161000	Bivalent Enhancer	Colonic Mucosa	Colon
23	chr19:36160800-36161000	Bivalent Enhancer	Fetal Intestine Large	intestine
24	chr19:36160800-36161000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
25	chr19:36160800-36161000	Bivalent Enhancer	K562	blood
26	chr19:36160800-36161200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:36160800-36161200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:36160800-36161200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon

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