Variant report

Variant	rs12203089
Chromosome Location	chr6:71288659-71288660
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	chr6:71287440..71290712-chr6:71292784..71295822,3	K562	blood:

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10214805	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10455706	1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs1048886	0.92[EUR][1000 genomes]
rs10945230	0.90[EUR][1000 genomes]
rs10945231	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10945235	0.94[EUR][1000 genomes]
rs11965656	0.83[EUR][1000 genomes]
rs12191321	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12197942	0.90[EUR][1000 genomes]
rs12197963	0.90[EUR][1000 genomes]
rs12200777	1.00[CHB][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12201029	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12203298	0.90[EUR][1000 genomes]
rs12209965	0.90[EUR][1000 genomes]
rs12216376	0.90[EUR][1000 genomes]
rs12524814	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12525408	1.00[ASN][1000 genomes]
rs12525538	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12525777	0.87[EUR][1000 genomes]
rs12526164	0.88[EUR][1000 genomes]
rs12526787	0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12526827	0.83[EUR][1000 genomes]
rs12526961	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12527634	0.85[EUR][1000 genomes]
rs12528385	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12528866	0.83[EUR][1000 genomes]
rs12529284	0.89[EUR][1000 genomes]
rs12529309	0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12530057	0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12530358	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16869267	0.83[EUR][1000 genomes]
rs16869340	0.81[EUR][1000 genomes]
rs16869353	0.89[EUR][1000 genomes]
rs16869370	0.81[EUR][1000 genomes]
rs16869371	0.89[EUR][1000 genomes]
rs16869373	0.89[EUR][1000 genomes]
rs17634272	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17634491	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17635446	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17635510	0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17706748	0.86[AMR][1000 genomes]
rs17706833	0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17713105	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17713212	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17713547	0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2207423	0.88[EUR][1000 genomes]
rs2207425	0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2273210	0.83[EUR][1000 genomes]
rs2293297	0.89[EUR][1000 genomes]
rs2295200	0.85[EUR][1000 genomes]
rs2346890	0.85[EUR][1000 genomes]
rs2691486	1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs2691488	0.91[EUR][1000 genomes]
rs2691490	0.91[EUR][1000 genomes]
rs2691493	0.88[EUR][1000 genomes]
rs2691494	0.91[EUR][1000 genomes]
rs2691495	0.88[EUR][1000 genomes]
rs2691496	1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs2842081	0.91[EUR][1000 genomes]
rs2881632	0.91[EUR][1000 genomes]
rs3193656	0.89[EUR][1000 genomes]
rs34246525	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35159719	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41265349	0.86[AMR][1000 genomes]
rs45460797	0.83[AMR][1000 genomes]
rs55639214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55761717	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55968813	0.84[EUR][1000 genomes]
rs55990831	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56074506	0.89[EUR][1000 genomes]
rs56114703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56143128	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56179165	0.89[EUR][1000 genomes]
rs56322111	0.89[EUR][1000 genomes]
rs56397968	0.86[AMR][1000 genomes]
rs58370765	0.81[EUR][1000 genomes]
rs58637377	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59275635	0.82[EUR][1000 genomes]
rs6455370	0.81[EUR][1000 genomes]
rs6901232	0.90[EUR][1000 genomes]
rs6901904	0.83[EUR][1000 genomes]
rs6911983	0.89[EUR][1000 genomes]
rs6913548	0.85[EUR][1000 genomes]
rs6916974	0.89[EUR][1000 genomes]
rs6920515	0.92[EUR][1000 genomes]
rs6933150	0.85[EUR][1000 genomes]
rs6940416	0.81[EUR][1000 genomes]
rs6941595	0.89[EUR][1000 genomes]
rs6942012	0.81[EUR][1000 genomes]
rs73474998	0.83[EUR][1000 genomes]
rs73478819	0.83[EUR][1000 genomes]
rs73480275	0.90[EUR][1000 genomes]
rs73480280	0.90[EUR][1000 genomes]
rs73482554	0.83[EUR][1000 genomes]
rs73482557	0.83[EUR][1000 genomes]
rs73482585	0.83[EUR][1000 genomes]
rs7450771	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7741265	0.97[EUR][1000 genomes]
rs7756774	0.89[EUR][1000 genomes]
rs7757026	0.90[EUR][1000 genomes]
rs9294872	0.83[EUR][1000 genomes]
rs9294876	0.81[EUR][1000 genomes]
rs9446267	0.81[EUR][1000 genomes]
rs9455113	0.83[EUR][1000 genomes]
rs9455114	0.81[EUR][1000 genomes]
rs9455121	0.83[EUR][1000 genomes]
rs9455139	0.82[EUR][1000 genomes]
rs9455140	0.83[EUR][1000 genomes]
rs9455150	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9455151	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9455158	0.81[EUR][1000 genomes]
rs9455160	0.81[EUR][1000 genomes]
rs9455161	0.89[EUR][1000 genomes]
rs9455162	0.90[EUR][1000 genomes]
rs9455163	0.90[EUR][1000 genomes]
rs9455168	0.92[EUR][1000 genomes]
rs9455177	0.91[EUR][1000 genomes]
rs9455181	0.94[EUR][1000 genomes]
rs9455182	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
5	nsv886145	chr6:71119524-71317480	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv886146	chr6:71219464-71317480	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv886147	chr6:71273253-71471863	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71277200-71289200	Weak transcription	Ovary	ovary
2	chr6:71277200-71290000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:71277200-71290000	Weak transcription	Left Ventricle	heart
4	chr6:71277200-71290000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:71277200-71290600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:71277200-71290600	Weak transcription	Brain Substantia Nigra	brain
7	chr6:71277200-71292000	Weak transcription	Small Intestine	intestine
8	chr6:71277200-71292400	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:71277200-71294400	Weak transcription	HSMM	muscle
10	chr6:71277200-71296800	Weak transcription	Pancreas	Pancrea
11	chr6:71277200-71300200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:71277200-71303200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr6:71277200-71310600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:71277400-71289200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:71277400-71289200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:71277400-71289200	Weak transcription	Brain Anterior Caudate	brain
17	chr6:71277400-71289200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr6:71277400-71289200	Weak transcription	Osteobl	bone
19	chr6:71277400-71289400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr6:71277400-71289600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr6:71277400-71289600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:71277400-71289800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:71277400-71289800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr6:71277400-71289800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr6:71277400-71290000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:71277400-71290000	Weak transcription	Brain Hippocampus Middle	brain
27	chr6:71277400-71290000	Weak transcription	Fetal Muscle Leg	muscle
28	chr6:71277400-71290000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr6:71277400-71290400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr6:71277400-71290600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr6:71277400-71290600	Weak transcription	Fetal Intestine Small	intestine
32	chr6:71277400-71294200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr6:71277400-71294800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr6:71277400-71295000	Weak transcription	HUVEC	blood vessel
35	chr6:71277400-71299000	Weak transcription	NHDF-Ad	bronchial
36	chr6:71277400-71300600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr6:71277400-71301800	Weak transcription	HSMMtube	muscle
38	chr6:71277400-71302000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:71277400-71302200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr6:71277400-71302800	Weak transcription	Thymus	Thymus
41	chr6:71277600-71289000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr6:71277600-71289800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:71277600-71291000	Weak transcription	Fetal Thymus	thymus
44	chr6:71277800-71289000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:71277800-71289200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr6:71277800-71289200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:71277800-71289200	Weak transcription	Placenta	Placenta
48	chr6:71277800-71289800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr6:71277800-71289800	Weak transcription	Liver	Liver
50	chr6:71277800-71290000	Weak transcription	Fetal Muscle Trunk	muscle

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