Variant report

Variant	rs60096331
Chromosome Location	chr2:173375391-173375392
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1001926	1.00[AFR][1000 genomes]
rs10187564	0.85[EUR][1000 genomes]
rs10207640	0.85[EUR][1000 genomes]
rs10207654	0.85[EUR][1000 genomes]
rs10930559	1.00[EUR][1000 genomes]
rs12052253	0.85[EUR][1000 genomes]
rs12052385	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12053442	1.00[AFR][1000 genomes]
rs12613307	0.82[EUR][1000 genomes]
rs12615584	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12615596	0.82[EUR][1000 genomes]
rs12621278	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12622724	0.82[EUR][1000 genomes]
rs13410475	0.85[EUR][1000 genomes]
rs13414928	0.82[EUR][1000 genomes]
rs1574256	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1574259	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs16860397	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16860419	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16860426	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs16860438	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs16860478	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16860513	0.88[EUR][1000 genomes]
rs16860515	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16860634	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs16860643	0.85[EUR][1000 genomes]
rs2008518	1.00[AFR][1000 genomes]
rs2178476	1.00[AFR][1000 genomes]
rs2272496	1.00[AFR][1000 genomes]
rs2293645	1.00[EUR][1000 genomes]
rs2293647	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2293648	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3762618	0.85[EUR][1000 genomes]
rs4405725	0.82[EUR][1000 genomes]
rs55867175	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56882727	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57244773	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57404607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57587465	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59374567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59454075	0.85[EUR][1000 genomes]
rs59476799	0.92[EUR][1000 genomes]
rs59970483	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6730284	1.00[EUR][1000 genomes]
rs6741759	1.00[EUR][1000 genomes]
rs6743174	0.91[EUR][1000 genomes]
rs9636257	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173347800-173376200	Weak transcription	Fetal Heart	heart
2	chr2:173356400-173379200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:173356600-173375400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:173356800-173376000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:173356800-173376200	Weak transcription	Brain Substantia Nigra	brain
6	chr2:173357000-173376000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:173357000-173376000	Weak transcription	Aorta	Aorta
8	chr2:173357200-173376600	Weak transcription	Right Ventricle	heart
9	chr2:173357600-173376200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:173358000-173376200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:173361000-173375600	Weak transcription	Spleen	Spleen
12	chr2:173367400-173376000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:173369600-173375400	Weak transcription	Left Ventricle	heart
14	chr2:173369600-173375600	Weak transcription	Liver	Liver
15	chr2:173369600-173376000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:173369600-173376000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:173369600-173376000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:173369600-173376000	Weak transcription	Esophagus	oesophagus
19	chr2:173369600-173376000	Weak transcription	HUVEC	blood vessel
20	chr2:173369800-173375600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:173369800-173375600	Weak transcription	Adipose Nuclei	Adipose
22	chr2:173369800-173376600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:173370200-173375400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:173370200-173375600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:173370400-173375400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:173370400-173375600	Weak transcription	Brain Anterior Caudate	brain
27	chr2:173371400-173375800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:173372200-173375400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:173372200-173375600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:173372400-173377000	Weak transcription	Thymus	Thymus
31	chr2:173372600-173379600	Enhancers	Primary B cells from peripheral blood	blood
32	chr2:173373000-173375400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:173373200-173375800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:173373200-173376200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:173373200-173376200	Weak transcription	NHEK	skin
36	chr2:173373200-173376400	Weak transcription	Fetal Thymus	thymus
37	chr2:173373400-173375800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:173373400-173375800	Weak transcription	Pancreas	Pancrea
39	chr2:173373400-173376000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:173373400-173376000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:173373400-173376400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:173373600-173375400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr2:173373600-173376400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:173373800-173375600	Weak transcription	HMEC	breast
45	chr2:173373800-173376000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr2:173374000-173375400	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr2:173374200-173376000	Enhancers	Primary hematopoietic stem cells	blood
48	chr2:173374200-173376000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:173374200-173376400	Enhancers	Primary T cells fromperipheralblood	blood
50	chr2:173374200-173376600	Enhancers	Primary T helper cells fromperipheralblood	blood

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