Variant report

Variant	rs10135963
Chromosome Location	chr14:68160569-68160570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:68160507-68162949	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:68160567-68160681	K562	blood:	n/a	n/a
3	JUND	chr14:68160537-68160690	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:68160241-68160980	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68159603..68161982-chr14:68281864..68284626,4	MCF-7	breast:
2	chr14:68153591..68158250-chr14:68160092..68166006,8	K562	blood:
3	chr14:68083940..68087212-chr14:68160289..68163699,4	K562	blood:
4	chr14:68139847..68143415-chr14:68157981..68164641,9	K562	blood:
5	chr14:68160495..68162347-chr14:68190470..68192944,2	MCF-7	breast:
6	chr14:68139320..68145896-chr14:68154797..68164104,19	MCF-7	breast:
7	chr14:68160479..68163286-chr14:68167983..68171190,4	MCF-7	breast:
8	chr14:68139933..68142840-chr14:68159503..68163270,4	K562	blood:
9	chr14:68083940..68088003-chr14:68160289..68162917,5	K562	blood:
10	chr14:68084183..68087028-chr14:68160218..68163936,5	MCF-7	breast:
11	chr14:68138842..68143559-chr14:68155519..68164066,22	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258466	TF binding region
RDH11	TF binding region
ENSG00000081181	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000201529	Chromatin interaction
ENSG00000258466	Chromatin interaction
ENSG00000139988	Chromatin interaction
ENSG00000072121	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10131022	1.00[EUR][1000 genomes]
rs10133699	1.00[EUR][1000 genomes]
rs10134763	1.00[EUR][1000 genomes]
rs10136738	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10139064	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10139482	1.00[EUR][1000 genomes]
rs10142186	1.00[EUR][1000 genomes]
rs10145923	1.00[EUR][1000 genomes]
rs10145933	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10146242	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10147052	1.00[EUR][1000 genomes]
rs10147145	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10150532	1.00[EUR][1000 genomes]
rs17104527	1.00[EUR][1000 genomes]
rs17104547	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104587	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104591	1.00[EUR][1000 genomes]
rs17104697	1.00[EUR][1000 genomes]
rs2234506	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2234512	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2295109	1.00[EUR][1000 genomes]
rs2295110	1.00[EUR][1000 genomes]
rs28451245	1.00[EUR][1000 genomes]
rs28556682	1.00[EUR][1000 genomes]
rs28780734	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28784083	1.00[EUR][1000 genomes]
rs28817410	1.00[EUR][1000 genomes]
rs28844401	1.00[EUR][1000 genomes]
rs34057001	1.00[EUR][1000 genomes]
rs35010674	1.00[EUR][1000 genomes]
rs4272963	1.00[EUR][1000 genomes]
rs4899218	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4899220	0.84[AFR][1000 genomes]
rs4902492	1.00[EUR][1000 genomes]
rs4902510	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4902516	1.00[EUR][1000 genomes]
rs4902522	1.00[EUR][1000 genomes]
rs57023353	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57348219	1.00[EUR][1000 genomes]
rs58112975	1.00[EUR][1000 genomes]
rs58952057	1.00[EUR][1000 genomes]
rs59945885	1.00[EUR][1000 genomes]
rs7143223	1.00[EUR][1000 genomes]
rs7143483	1.00[EUR][1000 genomes]
rs7144698	1.00[EUR][1000 genomes]
rs7145385	1.00[EUR][1000 genomes]
rs7149669	1.00[EUR][1000 genomes]
rs7156195	1.00[EUR][1000 genomes]
rs7157699	1.00[EUR][1000 genomes]
rs7359109	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7765	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8007916	1.00[EUR][1000 genomes]
rs8009762	1.00[EUR][1000 genomes]
rs8010136	1.00[EUR][1000 genomes]
rs8015609	1.00[EUR][1000 genomes]
rs8018161	1.00[EUR][1000 genomes]
rs8018528	1.00[EUR][1000 genomes]
rs8023116	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68142400-68160600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:68142400-68160800	Weak transcription	Right Atrium	heart
3	chr14:68143200-68160600	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr14:68143400-68160800	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr14:68144200-68160800	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr14:68144600-68160600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:68150800-68160800	Weak transcription	Fetal Heart	heart
8	chr14:68153000-68161600	Weak transcription	Psoas Muscle	Psoas
9	chr14:68156000-68160800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:68157400-68161400	Weak transcription	Stomach Mucosa	stomach
11	chr14:68157600-68161400	Weak transcription	Right Ventricle	heart
12	chr14:68158000-68160600	Weak transcription	Colonic Mucosa	Colon
13	chr14:68158000-68160800	Weak transcription	Fetal Intestine Small	intestine
14	chr14:68158000-68160800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr14:68158000-68160800	Weak transcription	Spleen	Spleen
16	chr14:68158000-68161400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr14:68158000-68161400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:68158000-68161400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr14:68158000-68161400	Weak transcription	Aorta	Aorta
20	chr14:68158000-68161400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr14:68158000-68161600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:68158000-68161600	Weak transcription	Gastric	stomach
23	chr14:68158000-68161600	Weak transcription	Pancreas	Pancrea
24	chr14:68158400-68160600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:68158400-68160800	Weak transcription	Fetal Kidney	kidney
26	chr14:68158600-68160800	Weak transcription	Small Intestine	intestine
27	chr14:68159000-68160600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:68159000-68160800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr14:68159000-68160800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:68159200-68160600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:68159200-68160600	Weak transcription	Primary B cells from cord blood	blood
32	chr14:68159200-68160800	Genic enhancers	NHEK	skin
33	chr14:68159200-68161200	Weak transcription	Adipose Nuclei	Adipose
34	chr14:68159200-68161400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr14:68159200-68161400	Weak transcription	Fetal Lung	lung
36	chr14:68159200-68161400	Weak transcription	Left Ventricle	heart
37	chr14:68159400-68160600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr14:68159400-68160600	Weak transcription	Colon Smooth Muscle	Colon
39	chr14:68159400-68160600	Weak transcription	Placenta	Placenta
40	chr14:68159400-68160800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:68159400-68160800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:68159400-68160800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr14:68159400-68161400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:68159400-68161400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr14:68159400-68161400	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr14:68159400-68161600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr14:68159600-68160600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:68159600-68160600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:68159600-68160600	Genic enhancers	NH-A	brain
50	chr14:68159600-68160600	Weak transcription	NHDF-Ad	bronchial

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