Variant report

Variant	rs10197664
Chromosome Location	chr2:30775072-30775073
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30774593..30776750-chr2:30778059..30780938,2	K562	blood:
2	chr2:30770020..30771587-chr2:30774146..30775763,2	K562	blood:
3	chr2:30769544..30771587-chr2:30773523..30775646,2	K562	blood:
4	chr2:30674853..30676516-chr2:30772425..30775355,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10205934	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495776	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes]
rs1096110	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11127276	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap]
rs1113661	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11676852	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11678346	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1252644	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12612080	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12616814	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12621663	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12714308	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1464817	0.94[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2363073	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2593432	0.91[CEU][hapmap];0.83[CHB][hapmap];0.92[JPT][hapmap];0.80[EUR][1000 genomes]
rs2593438	0.91[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap]
rs2609927	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6712951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs711242	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71412838	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs736256	0.95[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap]
rs7602714	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829626	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs829628	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs829668	0.86[EUR][1000 genomes]
rs9789517	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30749000-30812600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:30757800-30809000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:30758200-30795000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
5	chr2:30758800-30784400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr2:30758800-30785000	Weak transcription	Left Ventricle	heart
7	chr2:30758800-30809600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:30759000-30785200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:30759200-30805600	Weak transcription	K562	blood
10	chr2:30759400-30785000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:30759400-30785000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:30759400-30785000	Weak transcription	Dnd41	blood
13	chr2:30759600-30786000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:30764000-30792400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:30764400-30784200	Weak transcription	Primary B cells from cord blood	blood
16	chr2:30765000-30793600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:30766800-30810200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:30770000-30784200	Weak transcription	HepG2	liver
19	chr2:30771400-30782600	Weak transcription	Fetal Heart	heart
20	chr2:30773400-30792200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:30773800-30775600	Strong transcription	Primary T cells from cord blood	blood
22	chr2:30773800-30785000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:30774000-30777400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:30774200-30785200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:30774200-30793200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:30774600-30785200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:30774600-30790200	Weak transcription	A549	lung
28	chr2:30774600-30790400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:30774800-30785000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:30774800-30812000	Weak transcription	Fetal Lung	lung
31	chr2:30775000-30775600	Strong transcription	Primary hematopoietic stem cells	blood
32	chr2:30775000-30775800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:30775000-30776200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:30775000-30778800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:30775000-30785600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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