Variant report

Variant	rs1023588
Chromosome Location	chr2:10796181-10796182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10586954..10588782-chr2:10794192..10796406,3	K562	blood:

Variant related genes	Relation type
ENSG00000115758	Chromatin interaction
ENSG00000206633	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10207845	0.81[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1023587	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1045596	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs10490187	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10929675	1.00[CEU][hapmap];0.86[CHD][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs11673879	1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11681219	0.90[EUR][1000 genomes]
rs12476022	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12621903	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12998328	1.00[CEU][hapmap]
rs13011439	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs13019722	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13035291	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1990614	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2015525	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2110779	1.00[CEU][hapmap];0.87[CHB][hapmap];0.89[CHD][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2160257	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs2287063	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34140737	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34562923	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34565728	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34851538	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34965800	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35364825	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35454548	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35688901	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36065209	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3732111	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3732114	1.00[CEU][hapmap];0.88[CHD][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs3815520	0.95[CHB][hapmap]
rs3821195	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs3821196	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4668688	1.00[CEU][hapmap]
rs4668692	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4669597	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4669600	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4669601	1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56403646	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56902481	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59199925	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62127163	0.90[EUR][1000 genomes]
rs62127196	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6432106	0.88[EUR][1000 genomes]
rs6432108	0.90[EUR][1000 genomes]
rs6432127	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6432129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6716907	1.00[CEU][hapmap];0.83[CHB][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6733161	1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6744848	0.95[CHB][hapmap]
rs6748865	1.00[CEU][hapmap]
rs6752034	1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6752145	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6757809	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs7579314	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7594513	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7594805	0.95[CHB][hapmap]
rs7594816	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9678985	0.80[AMR][1000 genomes];0.92[EUR][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	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10729400-10798400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:10756200-10828400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:10772200-10808400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:10776200-10803000	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:10779400-10801400	Strong transcription	Primary T cells from cord blood	blood
6	chr2:10779600-10803600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:10779600-10808400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:10780600-10800000	Weak transcription	Right Atrium	heart
9	chr2:10781600-10799800	Strong transcription	Liver	Liver
10	chr2:10781600-10800400	Strong transcription	Duodenum Mucosa	Duodenum
11	chr2:10781800-10803000	Strong transcription	Adipose Nuclei	Adipose
12	chr2:10782000-10803200	Strong transcription	Dnd41	blood
13	chr2:10782200-10808200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:10784800-10803200	Strong transcription	A549	lung
15	chr2:10785800-10800200	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr2:10786000-10800400	Strong transcription	HepG2	liver
17	chr2:10786000-10800600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:10786200-10800400	Strong transcription	Primary B cells from peripheral blood	blood
19	chr2:10786200-10802800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:10786200-10803600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:10786400-10809200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:10786600-10808400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr2:10786800-10798400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:10786800-10803600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:10787000-10797400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:10787000-10803200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:10787000-10808800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:10787200-10802600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr2:10787400-10797200	Strong transcription	Fetal Intestine Large	intestine
30	chr2:10787400-10797600	Strong transcription	Fetal Intestine Small	intestine
31	chr2:10787400-10808400	Strong transcription	Placenta	Placenta
32	chr2:10787400-10808400	Strong transcription	Fetal Stomach	stomach
33	chr2:10787600-10800600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:10788000-10803400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr2:10788000-10827400	Weak transcription	Fetal Brain Male	brain
36	chr2:10788400-10800200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:10788400-10828000	Weak transcription	Fetal Heart	heart
38	chr2:10789000-10820600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr2:10789200-10799800	Strong transcription	Left Ventricle	heart
40	chr2:10789200-10803200	Strong transcription	Fetal Muscle Leg	muscle
41	chr2:10789400-10807800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:10789400-10808400	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:10790000-10808400	Strong transcription	Fetal Thymus	thymus
44	chr2:10790400-10800200	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr2:10790600-10797400	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:10791600-10808200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:10792000-10797800	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:10792400-10799800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr2:10792600-10799400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:10792800-10798000	Strong transcription	Sigmoid Colon	Sigmoid Colon

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