Variant report

Variant	rs2133991
Chromosome Location	chr6:121537712-121537713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10428866	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11154003	0.85[ASN][1000 genomes]
rs1273719	1.00[CEU][hapmap]
rs1273765	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1273773	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1273777	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1343072	0.85[ASN][1000 genomes]
rs1604279	0.85[ASN][1000 genomes]
rs17083186	1.00[CEU][hapmap]
rs17083373	1.00[CEU][hapmap]
rs17083415	1.00[CEU][hapmap]
rs17154	1.00[CEU][hapmap]
rs1776810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1827299	0.85[ASN][1000 genomes]
rs2102102	0.88[ASN][1000 genomes]
rs2133992	0.93[CHB][hapmap];0.89[ASN][1000 genomes]
rs2892765	1.00[CEU][hapmap]
rs2892766	0.84[ASN][1000 genomes]
rs35583988	0.85[ASN][1000 genomes]
rs4072142	1.00[CEU][hapmap]
rs4368847	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4371872	1.00[CEU][hapmap]
rs4476866	0.93[CHB][hapmap];0.85[ASN][1000 genomes]
rs4584021	0.82[CEU][hapmap]
rs4610600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4946547	0.93[CHB][hapmap];0.85[ASN][1000 genomes]
rs4946562	0.86[CHB][hapmap]
rs4946563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58729190	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6569180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6903467	1.00[CEU][hapmap]
rs6920884	0.82[CEU][hapmap]
rs6936507	0.88[ASN][1000 genomes]
rs7450022	0.93[CHB][hapmap];0.89[ASN][1000 genomes]
rs7451033	1.00[CEU][hapmap]
rs7741356	1.00[CEU][hapmap]
rs7742071	1.00[CEU][hapmap]
rs7743455	1.00[CEU][hapmap]
rs7744891	0.82[CEU][hapmap]
rs7749984	1.00[CEU][hapmap]
rs7761551	1.00[CEU][hapmap]
rs7765795	1.00[CEU][hapmap]
rs7767455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs785400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs785407	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs905024	0.93[CHB][hapmap];0.84[ASN][1000 genomes]
rs905025	0.92[CHB][hapmap];0.85[ASN][1000 genomes]
rs924528	0.83[ASN][1000 genomes]
rs9320793	0.85[ASN][1000 genomes]
rs9320794	0.92[CHB][hapmap];0.85[ASN][1000 genomes]
rs9320802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9372640	0.93[CHB][hapmap];0.81[ASN][1000 genomes]
rs9372641	0.85[ASN][1000 genomes]
rs9372643	0.85[ASN][1000 genomes]
rs9372644	0.85[ASN][1000 genomes]
rs9372646	0.90[CHB][hapmap]
rs9372647	0.88[ASN][1000 genomes]
rs9375007	0.82[ASN][1000 genomes]
rs9375008	0.82[ASN][1000 genomes]
rs9375009	0.85[ASN][1000 genomes]
rs9375011	0.92[CHB][hapmap];0.88[ASN][1000 genomes]
rs9375012	0.93[CHB][hapmap];0.88[ASN][1000 genomes]
rs9387926	1.00[CEU][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs9387928	0.85[ASN][1000 genomes]
rs9387930	0.88[ASN][1000 genomes]
rs9398623	0.92[CHB][hapmap];0.85[ASN][1000 genomes]
rs9398625	0.93[CHB][hapmap];0.88[ASN][1000 genomes]
rs9398631	0.85[CHB][hapmap]
rs9401373	0.85[ASN][1000 genomes]
rs9401374	0.93[CHB][hapmap];0.85[ASN][1000 genomes]
rs9401375	0.92[CHB][hapmap];0.84[ASN][1000 genomes]
rs9401376	0.85[ASN][1000 genomes]
rs9401377	0.85[ASN][1000 genomes]
rs9401378	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9401379	0.93[CHB][hapmap];0.85[ASN][1000 genomes]
rs9490136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9490149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023384	chr6:121235867-121683448	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv530527	chr6:121298528-121789855	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv604572	chr6:121465011-121544876	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121487400-121556000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:121509600-121575400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:121515600-121544200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:121516000-121560200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:121528400-121551800	Weak transcription	Psoas Muscle	Psoas
6	chr6:121532000-121539200	Weak transcription	Fetal Kidney	kidney
7	chr6:121532800-121540000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:121533000-121566800	Weak transcription	Stomach Mucosa	stomach
9	chr6:121534800-121538800	ZNF genes & repeats	Dnd41	blood
10	chr6:121535000-121569200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr6:121535400-121538400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr6:121535600-121537800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr6:121536200-121567200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr6:121536400-121539000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:121536400-121540800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:121536400-121544200	Weak transcription	Osteobl	bone
17	chr6:121536400-121556200	Weak transcription	Primary B cells from cord blood	blood
18	chr6:121536400-121556200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr6:121536600-121539800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:121536600-121540200	Strong transcription	Fetal Intestine Large	intestine
21	chr6:121536600-121541400	Weak transcription	Spleen	Spleen
22	chr6:121536600-121544000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:121536600-121545000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:121536600-121556000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:121536600-121556000	Weak transcription	Pancreas	Pancrea
26	chr6:121536600-121556400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:121536600-121556600	Weak transcription	Left Ventricle	heart
28	chr6:121536600-121558400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:121536600-121566000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:121536600-121568200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:121536600-121585400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:121536800-121538400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr6:121536800-121556000	Weak transcription	Fetal Stomach	stomach
34	chr6:121536800-121556600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:121536800-121565600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr6:121536800-121566000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr6:121536800-121566000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr6:121536800-121566000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr6:121536800-121584400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:121537000-121537800	Weak transcription	Brain Anterior Caudate	brain
41	chr6:121537000-121538400	Strong transcription	Ovary	ovary
42	chr6:121537000-121584600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr6:121537200-121538400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr6:121537200-121538400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr6:121537200-121539000	Weak transcription	Brain Substantia Nigra	brain
46	chr6:121537200-121539200	Weak transcription	Brain Hippocampus Middle	brain
47	chr6:121537200-121540000	Weak transcription	Fetal Lung	lung
48	chr6:121537200-121556000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr6:121537200-121556200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:121537200-121556200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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