Variant report

Variant	rs61917655
Chromosome Location	chr12:48210787-48210788
allele	C/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	POLR2A	chr12:48210061-48213217	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr12:48210720-48210870	GM12873	blood:	n/a	chr12:48210827-48210840
3	POLR2A	chr12:48210746-48211793	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr12:48210536-48211461	K562	blood:	n/a	n/a
5	POLR2A	chr12:48210172-48211556	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr12:48210723-48210900	K562	blood:	n/a	n/a
7	ZNF263	chr12:48210636-48211312	HEK293-T-REx	kidney:	n/a	n/a
8	POLR2A	chr12:48210009-48211562	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr12:48210653-48211488	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr12:48210763-48214962	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:1550755..1551513-chr12:48210776..48211679,2	Hela-S3	cervix:
2	chr12:48186144..48189155-chr12:48210267..48212702,3	MCF-7	breast:

Variant related genes	Relation type
HDAC7	TF binding region
ENSG00000197530	Chromatin interaction
ENSG00000272106	Chromatin interaction
ENSG00000061273	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs61917653	0.82[AMR][1000 genomes]
rs7300086	0.82[AMR][1000 genomes]

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	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
2	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
3	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
4	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
5	nsv899059	chr12:48129344-48215180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
7	nsv899060	chr12:48180508-48231430	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
8	esv3693398	chr12:48186738-48215749	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv1048466	chr12:48195350-48262541	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv541488	chr12:48195350-48262541	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48205400-48211800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:48207400-48211400	Weak transcription	Fetal Brain Male	brain
3	chr12:48207600-48210800	Weak transcription	HepG2	liver
4	chr12:48207600-48211800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:48208000-48211000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:48208000-48211200	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:48208200-48210800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:48208200-48210800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:48208200-48211200	Enhancers	Primary B cells from cord blood	blood
10	chr12:48208200-48211800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:48208600-48210800	Weak transcription	HSMMtube	muscle
12	chr12:48208600-48212400	Weak transcription	Ovary	ovary
13	chr12:48209000-48210800	Weak transcription	Fetal Intestine Large	intestine
14	chr12:48209200-48210800	Weak transcription	Brain Substantia Nigra	brain
15	chr12:48209200-48210800	Weak transcription	NHEK	skin
16	chr12:48209200-48211000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:48209200-48211000	Enhancers	GM12878-XiMat	blood
18	chr12:48209200-48211200	Weak transcription	Liver	Liver
19	chr12:48209200-48211600	Weak transcription	Aorta	Aorta
20	chr12:48209800-48210800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr12:48209800-48212400	Enhancers	Fetal Heart	heart
22	chr12:48209800-48212600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
23	chr12:48210000-48210800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr12:48210000-48211000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:48210000-48211600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:48210000-48212000	Enhancers	Placenta	Placenta
27	chr12:48210000-48212200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:48210000-48212200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr12:48210000-48212400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr12:48210000-48212600	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr12:48210000-48212600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr12:48210000-48212600	Transcr. at gene 5' and 3'	Thymus	Thymus
33	chr12:48210000-48213200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:48210200-48210800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr12:48210200-48210800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:48210200-48210800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:48210200-48210800	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr12:48210200-48210800	Enhancers	HMEC	breast
39	chr12:48210200-48211000	Enhancers	Esophagus	oesophagus
40	chr12:48210200-48211000	Enhancers	Fetal Brain Female	brain
41	chr12:48210200-48211400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:48210200-48211400	Enhancers	H9 Cell Line	embryonic stem cell
43	chr12:48210200-48211400	Enhancers	Pancreas	Pancrea
44	chr12:48210200-48211600	Enhancers	Dnd41	blood
45	chr12:48210200-48211800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:48210200-48211800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:48210200-48211800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr12:48210200-48211800	Enhancers	Brain Anterior Caudate	brain
49	chr12:48210200-48211800	Flanking Active TSS	Right Ventricle	heart
50	chr12:48210200-48212000	Enhancers	Brain Cingulate Gyrus	brain

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