Variant report

Variant	rs1948733
Chromosome Location	chr6:121529864-121529865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10499105	0.90[YRI][hapmap]
rs10782210	0.93[AFR][1000 genomes]
rs11968501	0.85[YRI][hapmap]
rs12530424	0.81[AFR][1000 genomes]
rs1273739	0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1273757	0.95[YRI][hapmap];0.92[AFR][1000 genomes]
rs1273759	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs1273760	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs1273766	0.92[AFR][1000 genomes]
rs1273772	0.92[AFR][1000 genomes]
rs1273774	0.92[AFR][1000 genomes]
rs1273775	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs1273776	0.92[AFR][1000 genomes]
rs1314812	0.92[AFR][1000 genomes]
rs1621008	0.92[AFR][1000 genomes]
rs1697446	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs17083387	0.95[YRI][hapmap]
rs2173837	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs2173838	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs2389414	0.85[YRI][hapmap]
rs4257888	0.81[AFR][1000 genomes]
rs4458731	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs4466276	0.95[YRI][hapmap]
rs4483022	0.91[YRI][hapmap]
rs4527742	0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs4543411	0.82[AFR][1000 genomes]
rs4585603	0.95[YRI][hapmap]
rs4946551	0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs6569179	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs6569182	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs6569183	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6569184	0.91[AFR][1000 genomes]
rs6569194	0.95[YRI][hapmap]
rs6912500	0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs6916425	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs6920459	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs6933263	0.80[AFR][1000 genomes]
rs6933489	0.90[YRI][hapmap]
rs6935039	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs706860	0.85[AFR][1000 genomes]
rs73524557	0.92[AFR][1000 genomes]
rs7762181	0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs7762977	0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs785401	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs785403	0.92[AFR][1000 genomes]
rs785404	0.92[AFR][1000 genomes]
rs810826	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs811484	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs813068	0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs905026	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9375015	0.85[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9375017	0.82[AFR][1000 genomes]
rs9385188	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9385191	0.95[AFR][1000 genomes]
rs9387932	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9482123	0.87[YRI][hapmap]
rs9490138	0.86[YRI][hapmap]

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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121478800-121535400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr6:121480200-121535600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr6:121480800-121535400	Weak transcription	Fetal Intestine Large	intestine
4	chr6:121481000-121535400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:121487400-121556000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:121496800-121535400	Weak transcription	Fetal Lung	lung
7	chr6:121498600-121535400	Weak transcription	Pancreas	Pancrea
8	chr6:121499800-121535800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr6:121509600-121575400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:121511400-121535400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:121511800-121535400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:121514200-121535600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr6:121515000-121535800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr6:121515200-121535400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:121515200-121535400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:121515400-121535400	Weak transcription	Gastric	stomach
17	chr6:121515600-121544200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:121515800-121532800	Weak transcription	Fetal Intestine Small	intestine
19	chr6:121516000-121535400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:121516000-121560200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:121516800-121535400	Weak transcription	Esophagus	oesophagus
22	chr6:121517800-121535400	Weak transcription	Aorta	Aorta
23	chr6:121518200-121535400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:121518600-121535400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr6:121519000-121531800	Weak transcription	Primary T cells from cord blood	blood
26	chr6:121519000-121535600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr6:121520200-121535400	Weak transcription	Adipose Nuclei	Adipose
28	chr6:121521000-121535400	Weak transcription	Brain Anterior Caudate	brain
29	chr6:121522600-121533000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:121522600-121535400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr6:121526200-121534200	Weak transcription	Dnd41	blood
32	chr6:121526800-121537400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr6:121527600-121535400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:121528400-121551800	Weak transcription	Psoas Muscle	Psoas
35	chr6:121528600-121535600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr6:121528800-121535800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr6:121529400-121531000	Strong transcription	Ovary	ovary
38	chr6:121529800-121532800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:121529800-121535400	Weak transcription	Primary B cells from cord blood	blood
40	chr6:121529800-121535400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr6:121529800-121535400	Weak transcription	Left Ventricle	heart

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