Variant report

Variant	rs11250222
Chromosome Location	chr10:1062355-1062356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:1034396..1035928-chr10:1061826..1063377,2	MCF-7	breast:
2	chr10:1048891..1050643-chr10:1061683..1063902,2	K562	blood:
3	chr10:1053992..1056284-chr10:1061634..1063262,2	K562	blood:
4	chr10:1061106..1063843-chr10:1063922..1066024,3	K562	blood:
5	chr10:1041252..1043166-chr10:1061792..1063880,2	K562	blood:
6	chr10:1053179..1055951-chr10:1060885..1063576,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107937	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10508205	0.84[EUR][1000 genomes]
rs10737004	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10795303	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs10795306	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10904597	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11250229	0.85[EUR][1000 genomes]
rs11250232	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11250238	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs11253536	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11253552	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11253567	1.00[JPT][hapmap]
rs1135416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs11592211	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11595690	0.98[ASN][1000 genomes]
rs11599483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12772979	1.00[YRI][hapmap]
rs17131848	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1904671	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2306405	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2387213	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2620942	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3207775	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs34407608	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3793778	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs4880754	0.81[AMR][1000 genomes]
rs4880758	1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs6560863	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7076107	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7080072	0.85[CHB][hapmap]
rs7095853	0.85[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916591	chr10:224406-1088734	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv540386	chr10:224406-1197416	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1054659	chr10:611444-1133578	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS 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 miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv466697	chr10:734229-1129527	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv549765	chr10:734229-1129527	Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv530116	chr10:776548-1401075	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	41 gene(s)	inside rSNPs	diseases
7	nsv1052540	chr10:887562-1300134	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv540407	chr10:887562-1300134	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv533861	chr10:945438-1382068	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv530117	chr10:945438-1729634	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv540408	chr10:955835-1260680	Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
12	nsv817532	chr10:964660-1885945	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
13	nsv1050577	chr10:986723-1277854	Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv540409	chr10:986723-1277854	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv949405	chr10:1010464-1376105	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv1048254	chr10:1016006-1146595	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
17	esv1813158	chr10:1021156-1062915	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
18	esv1831483	chr10:1021156-1062915	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
19	nsv1040178	chr10:1024910-1126104	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
20	nsv540410	chr10:1024910-1126104	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
21	nsv894722	chr10:1058837-1274538	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 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	chr10:1035000-1094000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:1035800-1066200	Strong transcription	NH-A	brain
3	chr10:1036000-1066800	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr10:1036800-1066000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr10:1036800-1066800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr10:1036800-1066800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:1036800-1066800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr10:1037000-1066000	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr10:1037000-1066200	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr10:1037200-1066800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:1037200-1067200	Strong transcription	NHEK	skin
12	chr10:1038000-1066200	Strong transcription	HUVEC	blood vessel
13	chr10:1038000-1066200	Strong transcription	Osteobl	bone
14	chr10:1038000-1067200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr10:1038200-1067000	Strong transcription	HSMM	muscle
16	chr10:1038200-1067200	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr10:1038200-1067400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr10:1038400-1063800	Strong transcription	HepG2	liver
19	chr10:1038400-1064200	Strong transcription	Brain Cingulate Gyrus	brain
20	chr10:1038400-1065600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr10:1038400-1065600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr10:1038400-1066000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr10:1038400-1066200	Strong transcription	Duodenum Mucosa	Duodenum
24	chr10:1038400-1066200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr10:1038400-1066800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr10:1038400-1066800	Strong transcription	HMEC	breast
27	chr10:1038600-1066200	Strong transcription	Brain Angular Gyrus	brain
28	chr10:1038600-1066800	Strong transcription	Fetal Thymus	thymus
29	chr10:1038600-1066800	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr10:1038600-1067000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr10:1038600-1067200	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr10:1038600-1068000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr10:1038800-1064200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr10:1038800-1064400	Strong transcription	Left Ventricle	heart
35	chr10:1038800-1065800	Strong transcription	Brain Anterior Caudate	brain
36	chr10:1038800-1066600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
37	chr10:1038800-1067000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr10:1038800-1067400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr10:1038800-1067800	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr10:1039000-1064200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
41	chr10:1040600-1065600	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr10:1041000-1063200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
43	chr10:1041200-1067800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr10:1043600-1064200	Strong transcription	Psoas Muscle	Psoas
45	chr10:1046400-1066000	Strong transcription	HSMMtube	muscle
46	chr10:1046800-1068600	Weak transcription	Right Atrium	heart
47	chr10:1047600-1067400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr10:1048200-1066200	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr10:1048200-1066800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr10:1048200-1066800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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