Variant report

Variant	rs11252230
Chromosome Location	chr10:4018960-4018961
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:4017109..4020587-chr10:4022770..4025732,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10508272	0.85[CEU][hapmap];0.90[GIH][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs10904150	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11252209	0.81[EUR][1000 genomes]
rs11252235	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11252236	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11252237	0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11252277	0.81[GIH][hapmap]
rs11814797	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12217249	0.85[CEU][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12217258	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12217980	0.91[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12219083	1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1409209	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1570947	0.87[EUR][1000 genomes]
rs17131877	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs17136237	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2031575	0.85[CEU][hapmap];0.81[GIH][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs2397398	0.87[EUR][1000 genomes]
rs2645215	0.84[EUR][1000 genomes]
rs56142939	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56154000	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56250932	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57872033	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61519757	0.94[EUR][1000 genomes]
rs67401362	0.89[EUR][1000 genomes]
rs7092266	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs7098287	0.87[EUR][1000 genomes]
rs72774706	0.81[EUR][1000 genomes]
rs72774717	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72774723	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72774728	0.94[EUR][1000 genomes]
rs7900453	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7903823	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943017	0.94[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	nsv1043680	chr10:3551191-4038002	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv1051297	chr10:3908706-4277678	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	nsv894784	chr10:3985194-4051081	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv5609	chr10:4002849-4040114	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4002200-4022000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:4011200-4019200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr10:4013200-4019800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:4013200-4020000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:4013400-4019800	Weak transcription	HMEC	breast
6	chr10:4014600-4019800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr10:4015400-4022200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr10:4015600-4021000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr10:4015800-4019200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr10:4016600-4020400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr10:4017200-4019800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:4017400-4019600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr10:4017400-4025200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr10:4017400-4025400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr10:4017800-4025200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr10:4018000-4024400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr10:4018200-4019600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr10:4018200-4019800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr10:4018200-4020000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr10:4018200-4022800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr10:4018200-4024400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr10:4018200-4025200	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr10:4018400-4019600	Enhancers	Primary T cells from cord blood	blood
24	chr10:4018400-4021400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr10:4018600-4019600	Enhancers	Primary B cells from peripheral blood	blood
26	chr10:4018600-4020400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:4018800-4019200	Enhancers	Dnd41	blood
28	chr10:4018800-4020600	Enhancers	NHDF-Ad	bronchial

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