Variant report

Variant	rs8181779
Chromosome Location	chr12:82753594-82753595
allele	C/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	chr12:82753540-82753690	AG04450	lung:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
2	CTCF	chr12:82753566-82753739	HUVEC	blood vessel:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
3	CTCF	chr12:82753540-82753690	HPF	lung:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
4	CTCF	chr12:82753580-82753730	AG09319	gingival:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
5	CTCF	chr12:82753540-82753690	HPAF	blood vessel:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
6	CTCF	chr12:82753460-82753610	GM12864	blood:	n/a	n/a
7	CTCF	chr12:82753580-82753730	AoAF	blood vessel:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
8	CTCF	chr12:82753580-82753730	HCPEpiC	choroid plexus:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
9	CTCF	chr12:82753459-82753818	GM12878	blood:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
10	CTCF	chr12:82753571-82753700	GM13977	blood:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
11	RAD21	chr12:82753469-82753724	GM12878	blood:	n/a	n/a
12	CTCF	chr12:82753460-82753610	HVMF	connective:	n/a	n/a
13	CTCF	chr12:82753520-82753670	HMEC	breast:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
14	CTCF	chr12:82753540-82753690	HRE	kidney:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
15	CTCF	chr12:82753460-82753610	MCF-7	breast:	n/a	n/a
16	CTCF	chr12:82753580-82753730	HA-sp	spinal cord:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
17	CTCF	chr12:82753560-82753710	GM12873	blood:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
18	CTCF	chr12:82753580-82753730	RPTEC	kidney:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
19	CTCF	chr12:82753580-82753730	AG10803	skin:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
20	CTCF	chr12:82753460-82753610	NHDF-neo	bronchial:	n/a	n/a
21	CTCF	chr12:82753480-82753630	AG04450	lung:	n/a	n/a
22	CTCF	chr12:82753520-82753670	AG04449	skin:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
23	CTCF	chr12:82753540-82753690	AG04449	skin:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
24	CTCF	chr12:82753560-82753710	HCM	heart:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
25	CTCF	chr12:82753580-82753730	GM06990	blood:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
26	CTCF	chr12:82753520-82753670	AoAF	blood vessel:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
27	CTCF	chr12:82753594-82753709	Hela-S3	cervix:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
28	CTCF	chr12:82753560-82753710	GM12874	blood:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
29	CTCF	chr12:82753500-82753650	AG09309	skin:	n/a	n/a
30	CTCF	chr12:82753540-82753690	NHDF-neo	bronchial:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
31	CTCF	chr12:82753580-82753730	HFF	foreskin:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
32	CTCF	chr12:82753520-82753670	HBMEC	blood vessel:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
33	CTCF	chr12:82753576-82753696	LNCaP	prostate:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
34	CTCF	chr12:82753560-82753710	AG09319	gingival:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
35	CTCF	chr12:82753540-82753690	HUVEC	blood vessel:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
36	CTCF	chr12:82753520-82753670	GM12871	blood:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
37	CTCF	chr12:82753560-82753710	HRE	kidney:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
38	CTCF	chr12:82753540-82753690	HRPEpiC	eye:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
39	CTCF	chr12:82753560-82753710	MCF-7	breast:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
40	CTCF	chr12:82753580-82753730	HCFaa	heart:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
41	CTCF	chr12:82753580-82753695	GM10266	blood:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
42	CTCF	chr12:82753560-82753710	HMF	breast:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
43	CTCF	chr12:82753520-82753670	HCPEpiC	choroid plexus:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
44	CTCF	chr12:82753578-82753713	GM10248	blood:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
45	CTCF	chr12:82753520-82753670	GM12872	blood:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
46	CTCF	chr12:82753540-82753690	GM12878	blood:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
47	CTCF	chr12:82750976-82754265	A549	lung:	n/a	chr12:82752664-82752682 chr12:82752667-82752677 chr12:82752861-82752869 chr12:82752670-82752679 chr12:82753648-82753656 chr12:82752666-82752679 chr12:82753645-82753666
48	CTCF	chr12:82753587-82753707	GM13976	blood:	n/a	chr12:82753648-82753656 chr12:82753645-82753666
49	ZNF143	chr12:82753418-82753801	GM12878	blood:	n/a	n/a
50	CTCF	chr12:82753580-82753730	BJ	skin:	n/a	chr12:82753648-82753656 chr12:82753645-82753666

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:82753358..82755104-chr12:82772991..82774509,2	K562	blood:
2	chr12:82753521..82754075-chr12:83021392..83022207,3	MCF-7	breast:

Variant related genes	Relation type
CCDC59	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10778890	1.00[AFR][1000 genomes]
rs10778893	1.00[AFR][1000 genomes]
rs10778896	1.00[AFR][1000 genomes]
rs10778899	1.00[AFR][1000 genomes]
rs2717448	1.00[AFR][1000 genomes]
rs4509843	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559539	chr12:82280797-82896218	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1041954	chr12:82314981-83008609	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv541550	chr12:82314981-83008609	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv832471	chr12:82578953-82755360	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv559541	chr12:82715210-83108395	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:82750200-82753600	Active TSS	Psoas Muscle	Psoas
2	chr12:82750800-82753600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:82750800-82753600	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr12:82750800-82753600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:82751000-82753600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:82751000-82753600	Active TSS	Right Ventricle	heart
7	chr12:82751000-82753800	Active TSS	Right Atrium	heart
8	chr12:82751200-82754600	Active TSS	GM12878-XiMat	blood
9	chr12:82751400-82753600	Active TSS	HMEC	breast
10	chr12:82751400-82753800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:82752800-82753600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:82752800-82753600	Flanking Active TSS	Liver	Liver
13	chr12:82752800-82753800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr12:82752800-82753800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:82752800-82753800	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr12:82752800-82753800	Flanking Active TSS	Fetal Lung	lung
17	chr12:82753000-82753600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:82753000-82753600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr12:82753000-82753600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr12:82753000-82753600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr12:82753000-82753600	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr12:82753000-82753600	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr12:82753000-82753600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr12:82753000-82753600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:82753000-82753600	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr12:82753000-82753600	Flanking Active TSS	Colon Smooth Muscle	Colon
27	chr12:82753000-82753600	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr12:82753000-82753600	Flanking Active TSS	Rectal Smooth Muscle	rectum
29	chr12:82753000-82753600	Flanking Active TSS	HUVEC	blood vessel
30	chr12:82753000-82753800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:82753000-82753800	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr12:82753000-82753800	Flanking Active TSS	Fetal Heart	heart
33	chr12:82753000-82753800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr12:82753000-82753800	Flanking Active TSS	Dnd41	blood
35	chr12:82753000-82754000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:82753000-82754000	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr12:82753200-82753600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr12:82753200-82753600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr12:82753200-82753600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:82753200-82753600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:82753200-82753600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr12:82753200-82753600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:82753200-82753600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr12:82753200-82753600	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr12:82753200-82753600	Flanking Active TSS	Fetal Kidney	kidney
46	chr12:82753200-82753600	Enhancers	Left Ventricle	heart
47	chr12:82753200-82753600	Enhancers	Small Intestine	intestine
48	chr12:82753200-82753600	Flanking Active TSS	NHDF-Ad	bronchial
49	chr12:82753200-82753800	Enhancers	Primary B cells from peripheral blood	blood
50	chr12:82753200-82753800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links