Variant report

Variant	rs6750281
Chromosome Location	chr2:99274418-99274419
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10189698	0.86[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1028144	1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11123746	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12468113	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12613547	0.97[EUR][1000 genomes]
rs12613577	0.86[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12616821	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1514914	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1599827	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1599828	0.86[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2063780	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2271670	0.86[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2309432	0.97[EUR][1000 genomes]
rs2309433	0.86[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2871234	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs34457904	0.97[EUR][1000 genomes]
rs34622150	0.96[EUR][1000 genomes]
rs3754870	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3769691	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4508652	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs4513341	0.95[EUR][1000 genomes]
rs6542835	0.86[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6719489	0.86[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7557647	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs9308813	0.82[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9308814	0.83[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][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	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv582516	chr2:99254031-99304794	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99231200-99286200	Weak transcription	Stomach Mucosa	stomach
2	chr2:99234600-99310600	Weak transcription	Small Intestine	intestine
3	chr2:99234800-99296400	Weak transcription	Esophagus	oesophagus
4	chr2:99249800-99318000	Weak transcription	Psoas Muscle	Psoas
5	chr2:99251400-99277800	Weak transcription	Spleen	Spleen
6	chr2:99251400-99295600	Weak transcription	Fetal Stomach	stomach
7	chr2:99251600-99275400	Weak transcription	Gastric	stomach
8	chr2:99251600-99302000	Weak transcription	Brain Angular Gyrus	brain
9	chr2:99251600-99306600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:99251800-99275600	Weak transcription	Aorta	Aorta
11	chr2:99253200-99277400	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:99253200-99293000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:99255600-99306800	Weak transcription	Colonic Mucosa	Colon
14	chr2:99256400-99296000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:99259000-99281800	Weak transcription	Left Ventricle	heart
16	chr2:99260000-99288000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:99260600-99290400	Weak transcription	Liver	Liver
18	chr2:99260600-99290800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:99264600-99299000	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:99265200-99275400	Weak transcription	Pancreas	Pancrea
21	chr2:99265200-99291800	Weak transcription	Placenta	Placenta
22	chr2:99265400-99290800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:99265600-99306600	Weak transcription	Lung	lung
24	chr2:99265800-99275400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:99265800-99303800	Weak transcription	Brain Substantia Nigra	brain
26	chr2:99266200-99290400	Weak transcription	Adipose Nuclei	Adipose
27	chr2:99266200-99296200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:99266400-99275400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:99266400-99278000	Weak transcription	HUVEC	blood vessel
30	chr2:99266400-99304200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr2:99267600-99284200	Weak transcription	Fetal Intestine Small	intestine
32	chr2:99269600-99277000	Weak transcription	Brain Anterior Caudate	brain
33	chr2:99270600-99293800	Strong transcription	HepG2	liver
34	chr2:99271400-99274600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:99271400-99275400	Weak transcription	NHEK	skin
36	chr2:99271800-99275400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr2:99271800-99288800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:99271800-99289400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr2:99272000-99275400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:99272000-99275400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr2:99272200-99277000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:99272200-99289000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:99272400-99277000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr2:99272400-99280200	Strong transcription	Dnd41	blood
45	chr2:99272600-99276800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:99273000-99274600	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr2:99273000-99275400	Weak transcription	Fetal Intestine Large	intestine
48	chr2:99273400-99275800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr2:99273600-99294600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:99273800-99275000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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