Variant report

Variant	rs2099848
Chromosome Location	chr2:187386245-187386246
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187384982..187387074-chr2:187390349..187392108,2	K562	blood:
2	chr2:187309177..187311666-chr2:187386026..187388228,2	K562	blood:
3	chr2:187384719..187386764-chr2:187392333..187394078,2	MCF-7	breast:
4	chr2:187381247..187383306-chr2:187384727..187387311,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11693004	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58728105	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6742523	1.00[ASN][1000 genomes]
rs73035273	0.84[AMR][1000 genomes]
rs73035285	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs73037573	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7588731	1.00[ASN][1000 genomes]

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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv459988	chr2:187364878-187440683	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv584031	chr2:187364878-187440683	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187359600-187386400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:187359800-187387200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:187360000-187386800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:187361400-187389200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:187363000-187387800	Weak transcription	Pancreas	Pancrea
6	chr2:187363000-187408800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:187363200-187397600	Weak transcription	Small Intestine	intestine
8	chr2:187367200-187396800	Weak transcription	Gastric	stomach
9	chr2:187367200-187405800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:187370800-187386800	Weak transcription	Stomach Mucosa	stomach
11	chr2:187371000-187389400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:187371000-187395800	Weak transcription	Fetal Heart	heart
13	chr2:187371000-187407800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:187372200-187390000	Weak transcription	Fetal Brain Male	brain
15	chr2:187373600-187388000	Weak transcription	Psoas Muscle	Psoas
16	chr2:187373600-187395800	Weak transcription	HSMMtube	muscle
17	chr2:187373600-187397600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:187373800-187387000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:187373800-187387800	Weak transcription	Right Ventricle	heart
20	chr2:187373800-187390200	Weak transcription	Brain Anterior Caudate	brain
21	chr2:187374000-187388600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:187374200-187386400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:187374200-187386600	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:187374200-187386600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:187374400-187386400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr2:187374400-187389800	Weak transcription	Brain Germinal Matrix	brain
27	chr2:187374400-187396200	Weak transcription	Brain Substantia Nigra	brain
28	chr2:187374400-187398800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:187374800-187387800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:187374800-187388400	Weak transcription	NHLF	lung
31	chr2:187375200-187387000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr2:187375800-187386600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:187376000-187387600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:187377000-187387000	Weak transcription	Hela-S3	cervix
35	chr2:187377200-187386600	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:187377200-187397200	Weak transcription	HUVEC	blood vessel
37	chr2:187377800-187387600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:187378400-187387600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:187378600-187386400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:187378600-187387400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:187378800-187387200	Weak transcription	GM12878-XiMat	blood
42	chr2:187379000-187387800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr2:187379000-187388000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr2:187379000-187397400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:187379200-187386600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:187380400-187389200	Weak transcription	Fetal Lung	lung
47	chr2:187381400-187387600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr2:187381400-187387600	Weak transcription	HMEC	breast
49	chr2:187381800-187406600	Weak transcription	NHEK	skin
50	chr2:187383000-187386800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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