Variant report

Variant	rs534796405
Chromosome Location	chr12:105505898-105505899
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	KAP1	chr12:105505778-105505974	K562	blood:	n/a	n/a
2	POLR2A	chr12:105505766-105505983	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105505719..105508671-chr12:105627315..105629820,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257999	TF binding region
ENSG00000235162	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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv1826054	chr12:105505809-105568176	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105502400-105524600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:105502800-105516400	Weak transcription	Spleen	Spleen
3	chr12:105503000-105521800	Weak transcription	Stomach Mucosa	stomach
4	chr12:105503800-105506200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:105503800-105506400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:105503800-105507600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:105503800-105508400	Weak transcription	Brain Angular Gyrus	brain
8	chr12:105503800-105509200	Weak transcription	Colonic Mucosa	Colon
9	chr12:105503800-105509400	Weak transcription	HSMMtube	muscle
10	chr12:105503800-105511600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:105503800-105511800	Weak transcription	Left Ventricle	heart
12	chr12:105503800-105512400	Weak transcription	Lung	lung
13	chr12:105503800-105512800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:105503800-105512800	Weak transcription	Fetal Stomach	stomach
15	chr12:105503800-105512800	Weak transcription	Pancreas	Pancrea
16	chr12:105503800-105516600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:105503800-105516600	Weak transcription	Gastric	stomach
18	chr12:105503800-105516800	Weak transcription	Esophagus	oesophagus
19	chr12:105503800-105517000	Weak transcription	Right Ventricle	heart
20	chr12:105503800-105525200	Weak transcription	Fetal Heart	heart
21	chr12:105503800-105544200	Weak transcription	Aorta	Aorta
22	chr12:105504000-105506200	Enhancers	Rectal Smooth Muscle	rectum
23	chr12:105504000-105506600	Enhancers	Fetal Intestine Small	intestine
24	chr12:105504000-105507200	Genic enhancers	Primary B cells from peripheral blood	blood
25	chr12:105504000-105507200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:105504000-105507600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:105504000-105507800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:105504000-105509400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:105504000-105510000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:105504000-105510600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr12:105504000-105511600	Weak transcription	Ovary	ovary
32	chr12:105504000-105511800	Weak transcription	Brain Germinal Matrix	brain
33	chr12:105504000-105512400	Weak transcription	Thymus	Thymus
34	chr12:105504000-105516600	Weak transcription	Psoas Muscle	Psoas
35	chr12:105504000-105517000	Weak transcription	Small Intestine	intestine
36	chr12:105504200-105506200	Weak transcription	Brain Anterior Caudate	brain
37	chr12:105504200-105506400	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:105504200-105509800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:105504200-105509800	Weak transcription	Fetal Brain Female	brain
40	chr12:105504400-105508400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:105504400-105508400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:105504400-105509800	Weak transcription	Fetal Brain Male	brain
43	chr12:105504600-105507200	Genic enhancers	Primary B cells from cord blood	blood
44	chr12:105504600-105507600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:105504600-105509800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:105504800-105509800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:105505000-105506000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:105505000-105507000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:105505000-105507000	Genic enhancers	Monocytes-CD14+_RO01746	blood
50	chr12:105505000-105507400	Weak transcription	K562	blood

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