Variant report

Variant	rs534244153
Chromosome Location	chr2:39644431-39644432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:39643804..39646063-chr2:39663666..39665517,2	MCF-7	breast:
2	chr2:39635276..39637954-chr2:39640941..39644825,4	K562	blood:
3	chr2:39643207..39646078-chr2:39648407..39650074,2	K562	blood:
4	chr2:39644171..39645805-chr2:47402982..47405230,2	K562	blood:
5	chr2:39635451..39641229-chr2:39641645..39645299,6	MCF-7	breast:
6	chr2:39635276..39640508-chr2:39640941..39645614,10	K562	blood:
7	chr2:39643905..39646272-chr2:39657496..39659810,2	MCF-7	breast:
8	chr2:39642838..39645450-chr2:39657928..39659607,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000011566	Chromatin interaction
ENSG00000231312	Chromatin interaction
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv2695	chr2:39643221-39688015	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39636600-39651400	Weak transcription	Fetal Thymus	thymus
2	chr2:39637200-39647000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr2:39637200-39659000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:39637600-39651400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:39638800-39652400	Weak transcription	Hela-S3	cervix
6	chr2:39639000-39649000	Weak transcription	Primary T cells from cord blood	blood
7	chr2:39639200-39644800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:39639200-39658000	Weak transcription	Fetal Stomach	stomach
9	chr2:39639600-39646800	Weak transcription	Fetal Lung	lung
10	chr2:39639600-39657200	Weak transcription	HMEC	breast
11	chr2:39640600-39647600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:39640800-39644800	Weak transcription	Pancreas	Pancrea
13	chr2:39640800-39645000	Weak transcription	Gastric	stomach
14	chr2:39640800-39647000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:39640800-39647000	Weak transcription	Spleen	Spleen
16	chr2:39640800-39649200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:39640800-39652400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:39640800-39656800	Weak transcription	NH-A	brain
19	chr2:39640800-39660000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:39641000-39644800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:39641000-39644800	Weak transcription	Small Intestine	intestine
22	chr2:39641000-39645000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:39641000-39645200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:39641000-39645400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:39641000-39645600	Weak transcription	Fetal Intestine Small	intestine
26	chr2:39641000-39646600	Weak transcription	Aorta	Aorta
27	chr2:39641000-39651600	Weak transcription	HSMMtube	muscle
28	chr2:39641000-39656600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:39641200-39646000	Weak transcription	HSMM	muscle
30	chr2:39641200-39650200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:39641200-39659600	Weak transcription	Brain Angular Gyrus	brain
32	chr2:39641400-39645600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:39641400-39649200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:39641800-39644800	Weak transcription	Ovary	ovary
35	chr2:39641800-39645000	Weak transcription	Right Atrium	heart
36	chr2:39642000-39644800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:39642000-39645200	Enhancers	NHLF	lung
38	chr2:39642000-39645800	Enhancers	NHDF-Ad	bronchial
39	chr2:39642400-39646000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:39642400-39647400	Enhancers	Rectal Smooth Muscle	rectum
41	chr2:39642600-39644600	Enhancers	K562	blood
42	chr2:39642600-39645600	Weak transcription	HepG2	liver
43	chr2:39643200-39644600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr2:39643200-39645200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr2:39643200-39647200	Enhancers	Fetal Heart	heart
46	chr2:39643200-39647400	Enhancers	A549	lung
47	chr2:39643400-39645000	Enhancers	Brain Anterior Caudate	brain
48	chr2:39643400-39645200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr2:39643400-39645200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:39643400-39645200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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