Variant report

Variant	rs12210100
Chromosome Location	chr6:45448860-45448861
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45443101..45446352-chr6:45446405..45450040,4	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10214519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10485422	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10948237	1.00[JPT][hapmap]
rs10948238	1.00[JPT][hapmap]
rs11756145	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1200428	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12195878	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12197948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204049	0.91[ASN][1000 genomes]
rs12209785	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12215249	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1316330	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1317777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13201287	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs13207392	1.00[JPT][hapmap]
rs13208741	0.91[ASN][1000 genomes]
rs1343799	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1928533	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1934327	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1934329	1.00[JPT][hapmap]
rs2031966	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2252718	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2256819	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2396442	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2677098	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2677099	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2677100	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2677109	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs2677110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2790093	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2790094	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2790095	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2790097	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2790098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2790099	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2790100	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2790102	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2790103	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2819852	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2819853	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2819861	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2819864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2819865	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2819866	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2819867	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2820339	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2820340	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4438954	1.00[JPT][hapmap]
rs4711816	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4714854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4714859	0.86[ASN][1000 genomes]
rs6458443	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6458445	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6458446	1.00[JPT][hapmap]
rs6458447	1.00[JPT][hapmap]
rs6904353	1.00[JPT][hapmap]
rs6905181	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6905847	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6911664	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6915569	1.00[JPT][hapmap]
rs6932037	0.82[ASN][1000 genomes]
rs72864634	0.91[ASN][1000 genomes]
rs73737435	0.81[AFR][1000 genomes]
rs765724	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7748231	1.00[JPT][hapmap]
rs7755257	1.00[JPT][hapmap]
rs7756144	0.95[EUR][1000 genomes]
rs7772562	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs910586	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9472494	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9885645	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS 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

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45407200-45462000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:45419200-45456200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr6:45423000-45454400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:45444800-45449000	Enhancers	NHEK	skin
5	chr6:45445000-45466000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:45445800-45455400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr6:45445800-45457600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:45446000-45449000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:45446400-45454000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr6:45446400-45455200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr6:45447000-45454000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:45447000-45456200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:45447200-45449000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr6:45447600-45449000	Enhancers	HUVEC	blood vessel
15	chr6:45447600-45449200	Genic enhancers	Dnd41	blood
16	chr6:45447600-45449600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:45447800-45449000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:45447800-45449000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:45447800-45449000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr6:45447800-45449400	Flanking Active TSS	NHDF-Ad	bronchial
21	chr6:45448000-45449000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:45448000-45449000	Genic enhancers	HSMM	muscle
23	chr6:45448000-45449200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:45448000-45449200	Enhancers	Colon Smooth Muscle	Colon
25	chr6:45448200-45449000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr6:45448200-45449000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:45448200-45449000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:45448200-45449000	Enhancers	Fetal Intestine Small	intestine
29	chr6:45448200-45449000	Bivalent Enhancer	Fetal Thymus	thymus
30	chr6:45448200-45449000	Enhancers	Ovary	ovary
31	chr6:45448200-45449000	Enhancers	Rectal Smooth Muscle	rectum
32	chr6:45448200-45449000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr6:45448200-45449000	Enhancers	Small Intestine	intestine
34	chr6:45448200-45449000	Enhancers	Hela-S3	cervix
35	chr6:45448200-45449000	Enhancers	HMEC	breast
36	chr6:45448200-45449200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:45448200-45449200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:45448200-45449200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:45448200-45449200	Enhancers	HSMMtube	muscle
40	chr6:45448200-45449400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:45448200-45449400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:45448200-45449400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr6:45448200-45449400	Enhancers	Fetal Lung	lung
44	chr6:45448200-45449600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:45448200-45449600	Enhancers	Primary T cells from cord blood	blood
46	chr6:45448200-45449600	Enhancers	Fetal Stomach	stomach
47	chr6:45448400-45449000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:45448400-45449200	Active TSS	Brain Angular Gyrus	brain
49	chr6:45448400-45449200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:45448400-45449200	Flanking Active TSS	Osteobl	bone

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