Variant report

Variant	rs371075036
Chromosome Location	chr2:179396159-179396160
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179395497..179400266-chr2:179412543..179417721,4	K562	blood:
2	chr2:179395770..179398427-chr2:179417927..179420746,2	K562	blood:
3	chr2:179386919..179391089-chr2:179391647..179398872,11	K562	blood:
4	chr2:179386627..179389310-chr2:179394176..179396606,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237298	Chromatin interaction
ENSG00000270277	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	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv834468	chr2:179351116-179533625	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv522036	chr2:179395760-179398509	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	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	chr2:179388800-179396200	Weak transcription	Fetal Kidney	kidney
2	chr2:179388800-179396200	Weak transcription	Gastric	stomach
3	chr2:179388800-179396200	Weak transcription	Pancreas	Pancrea
4	chr2:179388800-179403600	Weak transcription	Esophagus	oesophagus
5	chr2:179388800-179408000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:179388800-179408600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:179388800-179410600	Weak transcription	Colonic Mucosa	Colon
8	chr2:179388800-179411800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:179388800-179417600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:179388800-179429400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:179388800-179441800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:179388800-179448800	Weak transcription	Small Intestine	intestine
13	chr2:179388800-179495800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:179389000-179396200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:179389000-179396200	Weak transcription	Brain Substantia Nigra	brain
16	chr2:179389000-179396200	Weak transcription	Fetal Brain Female	brain
17	chr2:179389200-179396200	Weak transcription	Brain Anterior Caudate	brain
18	chr2:179389200-179396200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:179389200-179412600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:179389400-179396200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:179389400-179396200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:179389400-179396200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:179389400-179396200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:179389400-179396200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:179389400-179396200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:179389400-179396200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:179389400-179396200	Weak transcription	Liver	Liver
28	chr2:179389400-179396200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:179389400-179396200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:179389400-179396200	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:179389400-179396200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr2:179389400-179396200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:179389400-179396200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr2:179389400-179396200	Weak transcription	Thymus	Thymus
35	chr2:179389400-179396200	Weak transcription	NHEK	skin
36	chr2:179389400-179396200	Weak transcription	Osteobl	bone
37	chr2:179389400-179396400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:179389400-179396400	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:179389400-179397000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:179389400-179397800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr2:179389400-179397800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:179389400-179398800	Weak transcription	HUVEC	blood vessel
43	chr2:179389400-179399000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr2:179389400-179401600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:179389400-179404000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:179389400-179404400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:179389400-179405800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:179389400-179408200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr2:179389400-179408800	Weak transcription	HMEC	breast
50	chr2:179389400-179410000	Weak transcription	Hela-S3	cervix

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