Variant report

Variant	rs6716201
Chromosome Location	chr2:100681286-100681287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs56710070	0.83[AFR][1000 genomes]
rs57341121	0.94[AFR][1000 genomes]
rs72966466	0.88[AFR][1000 genomes]
rs72966479	1.00[AFR][1000 genomes]
rs72966491	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100656600-100686600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:100662200-100684800	Weak transcription	Ovary	ovary
3	chr2:100663000-100682200	Weak transcription	Fetal Heart	heart
4	chr2:100664400-100699600	Weak transcription	Aorta	Aorta
5	chr2:100667800-100688000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:100672800-100682400	Weak transcription	Fetal Brain Male	brain
7	chr2:100674800-100682400	Weak transcription	Adipose Nuclei	Adipose
8	chr2:100674800-100682800	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:100675200-100683200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:100678000-100686600	Weak transcription	Primary T cells from cord blood	blood
11	chr2:100678000-100687600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:100679200-100682400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr2:100679600-100686000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:100679600-100689600	Weak transcription	Spleen	Spleen
15	chr2:100680600-100681400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:100680600-100681600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:100680600-100681600	Enhancers	Duodenum Mucosa	Duodenum
18	chr2:100680600-100684800	Enhancers	Fetal Lung	lung
19	chr2:100680600-100687800	Enhancers	Dnd41	blood
20	chr2:100680800-100681600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:100680800-100681600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr2:100680800-100682600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:100680800-100683200	Enhancers	Fetal Kidney	kidney
24	chr2:100681000-100681600	Enhancers	Thymus	Thymus
25	chr2:100681200-100681800	Enhancers	Primary B cells from peripheral blood	blood
26	chr2:100681200-100681800	Enhancers	Brain Germinal Matrix	brain
27	chr2:100681200-100682400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:100681200-100682800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:100681200-100683200	Weak transcription	Primary B cells from cord blood	blood
30	chr2:100681200-100683200	Enhancers	Fetal Brain Female	brain
31	chr2:100681200-100686400	Weak transcription	Small Intestine	intestine

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