Variant report

Variant	rs199629847
Chromosome Location	chr2:32445640-32445641
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32443634..32446548-chr2:32446914..32449802,2	K562	blood:
2	chr2:32445227..32449129-chr2:32451328..32453997,4	K562	blood:
3	chr2:32444908..32446420-chr2:32446520..32449032,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv2667	chr2:32444810-32489755	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region miRNA target site	4 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	chr2:32391600-32452800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:32391800-32453800	Weak transcription	Colonic Mucosa	Colon
3	chr2:32392800-32447600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:32399200-32449600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:32403000-32452200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:32404200-32447600	Weak transcription	Pancreas	Pancrea
7	chr2:32404200-32448000	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:32404200-32452400	Weak transcription	Right Ventricle	heart
9	chr2:32404200-32460600	Weak transcription	Esophagus	oesophagus
10	chr2:32404400-32447400	Weak transcription	HUVEC	blood vessel
11	chr2:32404400-32450800	Weak transcription	Gastric	stomach
12	chr2:32404800-32447800	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:32411600-32447800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:32412000-32450400	Weak transcription	Spleen	Spleen
15	chr2:32419200-32446800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:32420800-32447000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:32422000-32452400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:32423000-32447400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:32423400-32448000	Weak transcription	Small Intestine	intestine
20	chr2:32424400-32447400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:32424400-32447600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:32424400-32447600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:32424400-32455400	Weak transcription	Fetal Brain Male	brain
24	chr2:32426400-32455000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:32426800-32447600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:32426800-32447600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:32427000-32447400	Weak transcription	Ovary	ovary
28	chr2:32427400-32447400	Weak transcription	Brain Anterior Caudate	brain
29	chr2:32427400-32447800	Weak transcription	K562	blood
30	chr2:32428200-32447600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr2:32428800-32447600	Weak transcription	Aorta	Aorta
32	chr2:32433800-32451600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:32434000-32447400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:32434600-32449800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr2:32435200-32451600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:32435800-32445800	Strong transcription	Fetal Stomach	stomach
37	chr2:32436200-32447400	Weak transcription	Fetal Lung	lung
38	chr2:32437200-32447600	Weak transcription	Brain Germinal Matrix	brain
39	chr2:32437800-32449000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:32438800-32452400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:32440800-32448800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:32442200-32445800	Strong transcription	Primary hematopoietic stem cells	blood
43	chr2:32442400-32446000	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr2:32442600-32448800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:32442800-32445800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr2:32442800-32446400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:32442800-32448800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr2:32442800-32452200	Strong transcription	Liver	Liver
49	chr2:32443000-32446000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:32443000-32446400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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