Variant report

Variant	rs116773539
Chromosome Location	chr12:62657611-62657612
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	TBL1XR1	chr12:62656745-62657843	K562	blood:	n/a	n/a
2	IRF1	chr12:62657524-62659433	K562	blood:	n/a	chr12:62658693-62658707 chr12:62658695-62658706 chr12:62658692-62658706 chr12:62658410-62658420 chr12:62658694-62658708 chr12:62658696-62658710 chr12:62658692-62658712
3	MYC	chr12:62657514-62657633	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:62656909..62660165-chr12:62669931..62675800,5	K562	blood:
2	chr12:62655605..62659464-chr12:62666404..62669367,3	MCF-7	breast:
3	chr12:62657511..62660316-chr12:62711919..62713986,2	K562	blood:
4	chr12:62652133..62655871-chr12:62655983..62662487,11	MCF-7	breast:

Variant related genes	Relation type
FAM19A2	TF binding region
ENSG00000198673	Chromatin interaction
ENSG00000135655	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1049465	chr12:62657011-62785005	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1053403	chr12:62657011-62809413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62654800-62660600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:62655000-62657800	Weak transcription	Gastric	stomach
3	chr12:62655000-62659400	Weak transcription	Esophagus	oesophagus
4	chr12:62655000-62663400	Weak transcription	Lung	lung
5	chr12:62655200-62658400	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr12:62655400-62657800	Enhancers	Fetal Brain Male	brain
7	chr12:62655400-62658200	Enhancers	Colon Smooth Muscle	Colon
8	chr12:62655400-62660800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:62655400-62685600	Weak transcription	HSMM	muscle
10	chr12:62655600-62661400	Weak transcription	NH-A	brain
11	chr12:62655800-62658400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr12:62655800-62659400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:62655800-62661200	Weak transcription	Osteobl	bone
14	chr12:62656000-62657800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:62656000-62657800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr12:62656000-62657800	Weak transcription	Colonic Mucosa	Colon
17	chr12:62656000-62657800	Weak transcription	Fetal Intestine Small	intestine
18	chr12:62656000-62658200	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr12:62656000-62658800	Weak transcription	Brain Substantia Nigra	brain
20	chr12:62656000-62660800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:62656000-62661000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:62656000-62661200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:62656000-62661400	Weak transcription	Stomach Mucosa	stomach
24	chr12:62656000-62662000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:62656000-62663200	Weak transcription	Placenta	Placenta
26	chr12:62656000-62664800	Weak transcription	Fetal Stomach	stomach
27	chr12:62656000-62665400	Weak transcription	Brain Angular Gyrus	brain
28	chr12:62656000-62668200	Weak transcription	Right Atrium	heart
29	chr12:62656200-62657800	Weak transcription	Fetal Thymus	thymus
30	chr12:62656200-62657800	Weak transcription	Spleen	Spleen
31	chr12:62656200-62658000	Enhancers	Primary T cells fromperipheralblood	blood
32	chr12:62656200-62659800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr12:62656200-62661000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:62656200-62661200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:62656400-62657800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr12:62656400-62658000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
37	chr12:62656400-62658200	Transcr. at gene 5' and 3'	Dnd41	blood
38	chr12:62656400-62661200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:62656400-62669600	Enhancers	Liver	Liver
40	chr12:62656400-62679400	Weak transcription	Brain Anterior Caudate	brain
41	chr12:62656600-62657800	Weak transcription	Left Ventricle	heart
42	chr12:62656600-62657800	Weak transcription	Psoas Muscle	Psoas
43	chr12:62656600-62657800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr12:62656600-62657800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:62656600-62658400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:62656600-62658400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:62656600-62659200	Enhancers	Duodenum Mucosa	Duodenum
48	chr12:62656600-62659200	Weak transcription	Small Intestine	intestine
49	chr12:62656600-62659400	Weak transcription	Right Ventricle	heart
50	chr12:62656600-62660800	Weak transcription	NHLF	lung

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