Variant report

Variant	rs11695782
Chromosome Location	chr2:100678198-100678199
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100252809..100253781-chr2:100678108..100678796,2	MCF-7	breast:
2	chr2:100252944..100253687-chr2:100678182..100678844,3	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11675333	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11680846	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11684692	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11685258	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11685397	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11688877	0.94[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11691359	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11692695	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11693242	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11693804	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12998219	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13019124	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17023456	0.84[AFR][1000 genomes]
rs17352731	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17437470	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1821831	0.91[EUR][1000 genomes]
rs1866033	0.80[ASN][1000 genomes]
rs34754366	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34851723	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34860145	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35167301	0.85[EUR][1000 genomes]
rs35462405	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35720347	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35742951	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61365481	0.84[AFR][1000 genomes]
rs6724583	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6736637	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6738012	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6740622	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6748064	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs735001	0.84[AFR][1000 genomes]
rs74177693	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7594938	0.82[AMR][1000 genomes];0.91[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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11695782	FCGR2A	trans	cerebellum	SCAN
rs11695782	CHST10	cis	cerebellum	SCAN
rs11695782	LONRF2	cis	cerebellum	SCAN
rs11695782	LMAN2L	cis	cerebellum	SCAN
rs11695782	ASTL	cis	cerebellum	SCAN

Chromatin state (count:38 , 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	chr2:100660600-100678200	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:100662200-100684800	Weak transcription	Ovary	ovary
6	chr2:100663000-100680800	Weak transcription	Fetal Kidney	kidney
7	chr2:100663000-100682200	Weak transcription	Fetal Heart	heart
8	chr2:100664400-100699600	Weak transcription	Aorta	Aorta
9	chr2:100667800-100688000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:100669400-100681200	Weak transcription	Brain Germinal Matrix	brain
11	chr2:100669800-100680600	Weak transcription	Fetal Brain Female	brain
12	chr2:100671200-100678600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr2:100672800-100682400	Weak transcription	Fetal Brain Male	brain
14	chr2:100674800-100682400	Weak transcription	Adipose Nuclei	Adipose
15	chr2:100674800-100682800	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:100675200-100679200	Weak transcription	Spleen	Spleen
17	chr2:100675200-100683200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:100675400-100679000	Enhancers	Thymus	Thymus
19	chr2:100675400-100679200	Enhancers	Fetal Thymus	thymus
20	chr2:100675600-100678400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr2:100675800-100678400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:100675800-100678600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:100675800-100678800	Genic enhancers	Dnd41	blood
24	chr2:100675800-100679400	Genic enhancers	Primary B cells from peripheral blood	blood
25	chr2:100676000-100678200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr2:100676000-100679200	Strong transcription	Primary hematopoietic stem cells	blood
27	chr2:100676200-100679000	Enhancers	Primary T cells fromperipheralblood	blood
28	chr2:100676400-100678800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:100676600-100678400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:100677200-100678200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr2:100677400-100679600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:100677600-100678800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:100677600-100680600	Weak transcription	Fetal Lung	lung
34	chr2:100677600-100680800	Weak transcription	GM12878-XiMat	blood
35	chr2:100677800-100679200	Genic enhancers	Primary B cells from cord blood	blood
36	chr2:100678000-100679000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:100678000-100686600	Weak transcription	Primary T cells from cord blood	blood
38	chr2:100678000-100687600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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