Variant report

Variant	rs566962524
Chromosome Location	chr12:2161281-2161282
allele	G/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	MXI1	chr12:2160712-2163895	IMR90	lung:	n/a	n/a
2	MXI1	chr12:2160965-2164424	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr12:2161140-2161290	HEK293	kidney:	n/a	chr12:2161219-2161237
4	RAD21	chr12:2160647-2161822	SK-N-SH	brain:	n/a	chr12:2161220-2161239
5	CTCF	chr12:2161140-2161290	Caco-2	colon:	n/a	chr12:2161219-2161237
6	CTCF	chr12:2161200-2161350	BJ	skin:	n/a	chr12:2161219-2161237
7	CTCF	chr12:2161140-2161290	AG04449	skin:	n/a	chr12:2161219-2161237
8	CTCF	chr12:2161260-2161410	NHDF-neo	bronchial:	n/a	n/a
9	CTCF	chr12:2161160-2161310	WERI-Rb-1	eye:	n/a	chr12:2161219-2161237
10	CTCF	chr12:2161160-2161310	HCPEpiC	choroid plexus:	n/a	chr12:2161219-2161237
11	CTCF	chr12:2161140-2161290	AG09319	gingival:	n/a	chr12:2161219-2161237
12	REST	chr12:2160844-2163830	H1-neurons	neurons:	n/a	chr12:2162986-2162999 chr12:2162436-2162449
13	CTCF	chr12:2161158-2161311	MCF-7	breast:	n/a	chr12:2161219-2161237
14	CTCF	chr12:2161162-2161287	MCF-7	breast:	n/a	chr12:2161219-2161237
15	RAD21	chr12:2161057-2161416	IMR90	lung:	n/a	chr12:2161220-2161239
16	CTCF	chr12:2161200-2161350	HCM	heart:	n/a	chr12:2161219-2161237
17	RAD21	chr12:2161110-2161356	SK-N-SH_RA	brain:	n/a	chr12:2161220-2161239
18	CTCF	chr12:2161180-2161330	HPF	lung:	n/a	chr12:2161219-2161237
19	CTCF	chr12:2161200-2161350	NHLF	lung:	n/a	chr12:2161219-2161237
20	CTCF	chr12:2161140-2161290	HMF	breast:	n/a	chr12:2161219-2161237
21	RAD21	chr12:2161099-2161419	SK-N-SH_RA	brain:	n/a	chr12:2161220-2161239
22	CTCF	chr12:2161140-2161290	HCT-116	colon:	n/a	chr12:2161219-2161237
23	CTCF	chr12:2161117-2161317	Fibrobl	skin:	n/a	chr12:2161219-2161237
24	CTCF	chr12:2161137-2161308	MCF-7	breast:	n/a	chr12:2161219-2161237
25	MAZ	chr12:2160983-2164136	IMR90	lung:	n/a	chr12:2163471-2163480 chr12:2161824-2161834 chr12:2161365-2161378 chr12:2161367-2161376 chr12:2161366-2161377 chr12:2161365-2161378 chr12:2161367-2161377 chr12:2161367-2161374 chr12:2162790-2162800 chr12:2161365-2161380 chr12:2161366-2161377
26	CTCF	chr12:2161132-2161309	Gliobla	brain:	n/a	chr12:2161219-2161237
27	E2F6	chr12:2161077-2161729	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr12:2161170-2161813	H1-neurons	neurons:	n/a	n/a
29	CTCF	chr12:2161140-2161290	HepG2	liver:	n/a	chr12:2161219-2161237
30	MAX	chr12:2161127-2161566	H1-hESC	embryonic stem cell:	n/a	chr12:2161365-2161378 chr12:2161367-2161376 chr12:2161366-2161377 chr12:2161365-2161378 chr12:2161367-2161377 chr12:2161367-2161374 chr12:2161365-2161380 chr12:2161366-2161377
31	CTCF	chr12:2161160-2161310	Caco-2	colon:	n/a	chr12:2161219-2161237
32	REST	chr12:2161058-2161787	H1-neurons	neurons:	n/a	n/a
33	CTCF	chr12:2161160-2161310	HBMEC	blood vessel:	n/a	chr12:2161219-2161237
34	MAX	chr12:2161169-2161504	H1-hESC	embryonic stem cell:	n/a	chr12:2161365-2161378 chr12:2161367-2161376 chr12:2161366-2161377 chr12:2161365-2161378 chr12:2161367-2161377 chr12:2161367-2161374 chr12:2161365-2161380 chr12:2161366-2161377
35	CTCF	chr12:2161160-2161310	BJ	skin:	n/a	chr12:2161219-2161237
36	CTCF	chr12:2161160-2161310	AG09309	skin:	n/a	chr12:2161219-2161237
37	POLR2A	chr12:2161183-2162714	H1-neurons	neurons:	n/a	n/a
38	CTCF	chr12:2161081-2161405	IMR90	lung:	n/a	chr12:2161219-2161237
39	CTCF	chr12:2161140-2161290	NHDF-neo	bronchial:	n/a	chr12:2161219-2161237
40	CTCF	chr12:2161180-2161330	AG10803	skin:	n/a	chr12:2161219-2161237

Variant related genes	Relation type
CACNA1C	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv898598	chr12:1939252-2215448	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1040370	chr12:2021395-2671017	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv948400	chr12:2022411-2601363	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv521838	chr12:2060580-2299680	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1035885	chr12:2077660-2310157	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv541350	chr12:2077660-2310157	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1038722	chr12:2085035-2308205	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv541351	chr12:2085035-2308205	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv898601	chr12:2124955-2215448	Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv826182	chr12:2136395-2208074	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv826183	chr12:2147469-2257818	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv898602	chr12:2149786-2223740	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	esv3395240	chr12:2160891-2163339	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv18914	chr12:2160989-2164159	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv826184	chr12:2161268-2163795	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2160600-2161400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
2	chr12:2160800-2161400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:2160800-2161400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:2160800-2161400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
5	chr12:2160800-2161400	Flanking Active TSS	Colon Smooth Muscle	Colon
6	chr12:2160800-2161400	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
7	chr12:2160800-2164200	Active TSS	NHDF-Ad	bronchial
8	chr12:2160800-2166200	Active TSS	Brain Angular Gyrus	brain
9	chr12:2161000-2161400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:2161000-2161400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr12:2161000-2161400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:2161000-2161400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:2161000-2161400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:2161000-2161400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr12:2161000-2161400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr12:2161000-2161400	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
17	chr12:2161000-2161400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
18	chr12:2161000-2161400	Bivalent Enhancer	Placenta	Placenta
19	chr12:2161000-2161400	Flanking Active TSS	Left Ventricle	heart
20	chr12:2161000-2161400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
21	chr12:2161000-2161400	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr12:2161000-2161600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:2161000-2161600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:2161000-2161600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:2161000-2161600	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr12:2161000-2161600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
27	chr12:2161000-2161600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
28	chr12:2161000-2161600	Bivalent Enhancer	Spleen	Spleen
29	chr12:2161000-2161600	Flanking Active TSS	Osteobl	bone
30	chr12:2161000-2162400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr12:2161000-2163400	Active TSS	Ovary	ovary
32	chr12:2161000-2164200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr12:2161000-2165800	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr12:2161000-2167000	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr12:2161200-2161400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
36	chr12:2161200-2161400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
37	chr12:2161200-2161400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
38	chr12:2161200-2161400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:2161200-2161400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
40	chr12:2161200-2161400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
41	chr12:2161200-2161400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
42	chr12:2161200-2161400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
43	chr12:2161200-2161400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
44	chr12:2161200-2161400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
45	chr12:2161200-2161400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:2161200-2161400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:2161200-2161400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:2161200-2161400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:2161200-2161400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
50	chr12:2161200-2161400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine

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