Variant report

Variant	rs11680846
Chromosome Location	chr2:100679517-100679518
allele	A/T
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: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11675333	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11684692	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11685258	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11685397	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11688877	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11691359	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11692695	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11693242	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11693804	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11695782	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12998219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13019124	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17352731	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17437470	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1821831	0.89[EUR][1000 genomes]
rs1866033	0.80[ASN][1000 genomes]
rs34754366	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34851723	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34860145	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35167301	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35462405	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35720347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35742951	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6724583	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6736637	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6738012	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6740622	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6748064	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs74177693	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7594938	0.86[AMR][1000 genomes];0.89[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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100656400-100680000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:100656600-100686600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:100659400-100680000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:100662200-100684800	Weak transcription	Ovary	ovary
5	chr2:100663000-100680800	Weak transcription	Fetal Kidney	kidney
6	chr2:100663000-100682200	Weak transcription	Fetal Heart	heart
7	chr2:100664400-100699600	Weak transcription	Aorta	Aorta
8	chr2:100667800-100688000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:100669400-100681200	Weak transcription	Brain Germinal Matrix	brain
10	chr2:100669800-100680600	Weak transcription	Fetal Brain Female	brain
11	chr2:100672800-100682400	Weak transcription	Fetal Brain Male	brain
12	chr2:100674800-100682400	Weak transcription	Adipose Nuclei	Adipose
13	chr2:100674800-100682800	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:100675200-100683200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:100677400-100679600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:100677600-100680600	Weak transcription	Fetal Lung	lung
17	chr2:100677600-100680800	Weak transcription	GM12878-XiMat	blood
18	chr2:100678000-100686600	Weak transcription	Primary T cells from cord blood	blood
19	chr2:100678000-100687600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:100678400-100680600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:100678400-100680800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr2:100678800-100679800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:100678800-100680200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:100679000-100680600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:100679000-100681000	Weak transcription	Thymus	Thymus
26	chr2:100679200-100679600	Enhancers	Spleen	Spleen
27	chr2:100679200-100679800	Weak transcription	Primary B cells from cord blood	blood
28	chr2:100679200-100680800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:100679200-100682400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr2:100679400-100680600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr2:100679400-100680600	Weak transcription	Dnd41	blood

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