Variant report

Variant	rs7586108
Chromosome Location	chr2:99290522-99290523
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10173578	1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10207277	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10207790	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10496330	0.82[MEX][hapmap]
rs12328659	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13390230	0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13397574	0.93[AMR][1000 genomes]
rs13412203	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13425789	0.92[GIH][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes]
rs1877905	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99234600-99310600	Weak transcription	Small Intestine	intestine
2	chr2:99234800-99296400	Weak transcription	Esophagus	oesophagus
3	chr2:99249800-99318000	Weak transcription	Psoas Muscle	Psoas
4	chr2:99251400-99295600	Weak transcription	Fetal Stomach	stomach
5	chr2:99251600-99302000	Weak transcription	Brain Angular Gyrus	brain
6	chr2:99251600-99306600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:99253200-99293000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:99255600-99306800	Weak transcription	Colonic Mucosa	Colon
9	chr2:99256400-99296000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:99260600-99290800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:99264600-99299000	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:99265200-99291800	Weak transcription	Placenta	Placenta
13	chr2:99265400-99290800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:99265600-99306600	Weak transcription	Lung	lung
15	chr2:99265800-99303800	Weak transcription	Brain Substantia Nigra	brain
16	chr2:99266200-99296200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:99266400-99304200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:99270600-99293800	Strong transcription	HepG2	liver
19	chr2:99273600-99294600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:99276000-99301400	Weak transcription	Aorta	Aorta
21	chr2:99277600-99291000	Weak transcription	Brain Anterior Caudate	brain
22	chr2:99277600-99291200	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:99278000-99296200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:99279200-99302200	Weak transcription	Right Ventricle	heart
25	chr2:99280600-99292200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr2:99281400-99295600	Strong transcription	Dnd41	blood
27	chr2:99281800-99292600	Strong transcription	Fetal Intestine Large	intestine
28	chr2:99282400-99290800	Weak transcription	Primary B cells from cord blood	blood
29	chr2:99282800-99306600	Weak transcription	Left Ventricle	heart
30	chr2:99283200-99295000	Strong transcription	Primary T cells from cord blood	blood
31	chr2:99285200-99295600	Strong transcription	Fetal Thymus	thymus
32	chr2:99285200-99296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:99285800-99295600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr2:99286000-99291800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr2:99286200-99292000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:99286400-99293800	Weak transcription	Fetal Intestine Small	intestine
37	chr2:99286400-99301400	Weak transcription	Pancreas	Pancrea
38	chr2:99286800-99291800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr2:99286800-99304800	Weak transcription	Gastric	stomach
40	chr2:99287600-99291800	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr2:99287800-99291400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr2:99288000-99290800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:99288000-99310000	Weak transcription	Thymus	Thymus
44	chr2:99288200-99292200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:99288800-99292200	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:99289000-99290600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:99289000-99292400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:99289000-99292600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr2:99289200-99294000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:99289400-99292000	Strong transcription	Primary B cells from peripheral blood	blood

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