Variant report

Variant	rs543962305
Chromosome Location	chr12:64175299-64175300
allele	A/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	POLR2A	chr12:64173169-64175918	MCF10A-Er-Src	breast:	n/a	n/a
2	MXI1	chr12:64172589-64175771	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr12:64175295-64175319	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:64172533..64176121-chr12:64194832..64198679,5	K562	blood:
2	chr12:64172395..64175865-chr12:64176316..64181928,12	K562	blood:
3	chr12:64172631..64179011-chr12:64187703..64190145,6	MCF-7	breast:
4	chr12:64173978..64177817-chr12:64182120..64184728,4	K562	blood:

Variant related genes	Relation type
TMEM5	TF binding region
ENSG00000118600	Chromatin interaction
ENSG00000249753	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv899171	chr12:63916682-64202233	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv430514	chr12:63939733-64183598	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv3517152	chr12:64174867-64178831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv3517153	chr12:64174867-64178831	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64173200-64175600	Active TSS	Ovary	ovary
2	chr12:64174200-64175400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:64174200-64175400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:64174400-64176000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:64174400-64176000	Weak transcription	Left Ventricle	heart
6	chr12:64174400-64176200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:64174400-64176200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:64174400-64177200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:64174400-64180600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:64174400-64180600	Weak transcription	Gastric	stomach
11	chr12:64174400-64184000	Weak transcription	Esophagus	oesophagus
12	chr12:64174400-64184000	Weak transcription	Lung	lung
13	chr12:64174400-64189200	Weak transcription	Pancreas	Pancrea
14	chr12:64174400-64200200	Weak transcription	Spleen	Spleen
15	chr12:64174400-64201800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:64174400-64203400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:64174400-64204400	Weak transcription	Small Intestine	intestine
18	chr12:64174400-64204800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:64174600-64175400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:64174600-64175400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr12:64174600-64175400	Enhancers	Brain Angular Gyrus	brain
22	chr12:64174600-64175400	Flanking Active TSS	Dnd41	blood
23	chr12:64174600-64175400	Enhancers	Hela-S3	cervix
24	chr12:64174600-64175400	Enhancers	Osteobl	bone
25	chr12:64174600-64175600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:64174600-64175800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr12:64174600-64175800	Weak transcription	Fetal Intestine Large	intestine
28	chr12:64174600-64176000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr12:64174600-64176200	Enhancers	Primary T cells from cord blood	blood
30	chr12:64174600-64176200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:64174600-64176200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:64174600-64176200	Weak transcription	Adipose Nuclei	Adipose
33	chr12:64174600-64176200	Weak transcription	Fetal Muscle Leg	muscle
34	chr12:64174600-64176200	Weak transcription	HSMM	muscle
35	chr12:64174600-64176400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:64174600-64176400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr12:64174600-64176400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:64174600-64176400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:64174600-64177000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:64174600-64177400	Weak transcription	Fetal Thymus	thymus
41	chr12:64174600-64177600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr12:64174600-64177800	Weak transcription	Right Ventricle	heart
43	chr12:64174600-64178000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr12:64174600-64178000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr12:64174600-64180600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:64174600-64180600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr12:64174600-64180800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr12:64174600-64183800	Weak transcription	Psoas Muscle	Psoas
49	chr12:64174600-64186200	Weak transcription	Aorta	Aorta
50	chr12:64174600-64187800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links