Variant report

Variant	rs12616495
Chromosome Location	chr2:100680681-100680682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100679481..100681088-chr2:100682826..100685601,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1814009	0.88[EUR][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:30 , 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	chr2:100663000-100680800	Weak transcription	Fetal Kidney	kidney
4	chr2:100663000-100682200	Weak transcription	Fetal Heart	heart
5	chr2:100664400-100699600	Weak transcription	Aorta	Aorta
6	chr2:100667800-100688000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:100669400-100681200	Weak transcription	Brain Germinal Matrix	brain
8	chr2:100672800-100682400	Weak transcription	Fetal Brain Male	brain
9	chr2:100674800-100682400	Weak transcription	Adipose Nuclei	Adipose
10	chr2:100674800-100682800	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:100675200-100683200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:100677600-100680800	Weak transcription	GM12878-XiMat	blood
13	chr2:100678000-100686600	Weak transcription	Primary T cells from cord blood	blood
14	chr2:100678000-100687600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:100678400-100680800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:100679000-100681000	Weak transcription	Thymus	Thymus
17	chr2:100679200-100680800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:100679200-100682400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr2:100679600-100686000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:100679600-100689600	Weak transcription	Spleen	Spleen
21	chr2:100680000-100680800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:100680200-100681200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:100680600-100680800	Enhancers	Fetal Brain Female	brain
24	chr2:100680600-100681200	ZNF genes & repeats	Primary B cells from cord blood	blood
25	chr2:100680600-100681200	Genic enhancers	Primary B cells from peripheral blood	blood
26	chr2:100680600-100681400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:100680600-100681600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:100680600-100681600	Enhancers	Duodenum Mucosa	Duodenum
29	chr2:100680600-100684800	Enhancers	Fetal Lung	lung
30	chr2:100680600-100687800	Enhancers	Dnd41	blood

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