Variant report

Variant	rs62187106
Chromosome Location	chr2:190343544-190343545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190338740..190340819-chr2:190341888..190343639,2	K562	blood:
2	chr2:190339500..190342823-chr2:190342952..190345500,4	MCF-7	breast:
3	chr2:190341307..190343721-chr2:190345345..190347093,2	MCF-7	breast:
4	chr2:190341340..190343913-chr2:190441363..190443168,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10497701	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10497702	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11686908	0.98[ASN][1000 genomes]
rs11688806	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1371470	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1402369	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17198857	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17198892	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17271036	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17271043	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17271057	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17271071	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2289225	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2304701	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55822942	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58584769	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58926658	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61410845	0.86[ASN][1000 genomes]
rs62182070	0.86[ASN][1000 genomes]
rs62184647	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62184648	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62184649	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62184652	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62184653	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62187072	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62187074	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62187075	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62187077	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62187078	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62187082	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6721290	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6747132	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72914141	0.85[EUR][1000 genomes]
rs72914175	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7423067	0.91[EUR][1000 genomes];0.92[ASN][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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190306800-190344200	Weak transcription	Esophagus	oesophagus
2	chr2:190315400-190347800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:190333000-190347200	Weak transcription	Small Intestine	intestine
4	chr2:190333400-190344200	Weak transcription	Stomach Mucosa	stomach
5	chr2:190335000-190348600	Weak transcription	Pancreas	Pancrea
6	chr2:190335000-190348600	Weak transcription	Right Ventricle	heart
7	chr2:190335000-190348800	Weak transcription	Gastric	stomach
8	chr2:190335000-190351800	Weak transcription	Psoas Muscle	Psoas
9	chr2:190335000-190366200	Weak transcription	Ovary	ovary
10	chr2:190335800-190352600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:190336600-190349600	Weak transcription	HSMMtube	muscle
12	chr2:190338400-190348600	Weak transcription	Fetal Intestine Small	intestine
13	chr2:190338600-190346000	Weak transcription	Thymus	Thymus
14	chr2:190338600-190348600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:190338600-190349600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:190339400-190344200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:190339400-190349400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:190339600-190344200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:190339600-190344400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:190339600-190348200	Weak transcription	Lung	lung
21	chr2:190339600-190348400	Weak transcription	Spleen	Spleen
22	chr2:190339600-190349800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:190339600-190350000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:190339600-190352600	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:190340200-190343600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:190340600-190348800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:190340800-190352400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr2:190341200-190343800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:190341200-190347000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr2:190341200-190347200	Weak transcription	Adipose Nuclei	Adipose
31	chr2:190341200-190348600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:190341200-190348600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:190341400-190344200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:190341400-190344400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:190341400-190348600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:190341600-190348600	Weak transcription	Fetal Intestine Large	intestine
37	chr2:190341600-190348600	Weak transcription	Left Ventricle	heart
38	chr2:190341600-190350800	Weak transcription	Liver	Liver
39	chr2:190341800-190343600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:190341800-190343600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:190341800-190343600	Weak transcription	Fetal Lung	lung
42	chr2:190341800-190343600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:190341800-190343600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr2:190341800-190344000	Weak transcription	NH-A	brain
45	chr2:190341800-190351000	Weak transcription	HMEC	breast
46	chr2:190341800-190351200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:190342000-190343600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:190342000-190343600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:190342000-190343600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:190342000-190343600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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