Variant report

Variant	rs60400045
Chromosome Location	chr2:190341737-190341738
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190341307..190343721-chr2:190345345..190347093,2	MCF-7	breast:
2	chr2:190341305..190342866-chr2:190363155..190365858,2	K562	blood:
3	chr2:190341340..190343913-chr2:190441363..190443168,2	K562	blood:
4	chr2:190339500..190342823-chr2:190342952..190345500,4	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73978633	0.88[AFR][1000 genomes]

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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv584062	chr2:190272195-190376493	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190306800-190344200	Weak transcription	Esophagus	oesophagus
2	chr2:190307600-190342000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:190307600-190342600	Weak transcription	Aorta	Aorta
4	chr2:190308200-190342800	Strong transcription	A549	lung
5	chr2:190308600-190341800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:190308600-190342200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:190309000-190342600	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:190309600-190341800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:190309600-190342000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:190309800-190342400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:190310400-190341800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:190310800-190342000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:190310800-190342000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:190311000-190341800	Strong transcription	NH-A	brain
15	chr2:190311200-190341800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr2:190311600-190341800	Strong transcription	HMEC	breast
17	chr2:190311800-190342400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:190312200-190342400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:190312800-190342600	Strong transcription	Fetal Thymus	thymus
20	chr2:190313000-190342800	Strong transcription	HSMM	muscle
21	chr2:190313800-190342000	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr2:190315400-190347800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:190322000-190342000	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr2:190325600-190342600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:190326400-190341800	Strong transcription	Primary T cells from cord blood	blood
26	chr2:190330600-190342200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:190330600-190342600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:190331200-190341800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr2:190331600-190342600	Strong transcription	GM12878-XiMat	blood
30	chr2:190332400-190342400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:190333000-190347200	Weak transcription	Small Intestine	intestine
32	chr2:190333400-190344200	Weak transcription	Stomach Mucosa	stomach
33	chr2:190334800-190342600	Weak transcription	Brain Substantia Nigra	brain
34	chr2:190335000-190342800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:190335000-190343200	Weak transcription	Colonic Mucosa	Colon
36	chr2:190335000-190348600	Weak transcription	Pancreas	Pancrea
37	chr2:190335000-190348600	Weak transcription	Right Ventricle	heart
38	chr2:190335000-190348800	Weak transcription	Gastric	stomach
39	chr2:190335000-190351800	Weak transcription	Psoas Muscle	Psoas
40	chr2:190335000-190366200	Weak transcription	Ovary	ovary
41	chr2:190335200-190341800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr2:190335800-190342600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr2:190335800-190352600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:190336600-190349600	Weak transcription	HSMMtube	muscle
45	chr2:190337000-190342400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr2:190337400-190342200	Weak transcription	Hela-S3	cervix
47	chr2:190338000-190341800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:190338000-190341800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:190338200-190341800	Strong transcription	HUVEC	blood vessel
50	chr2:190338400-190348600	Weak transcription	Fetal Intestine Small	intestine

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