Variant report

Variant	rs11212595
Chromosome Location	chr11:108240370-108240371
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	chr11:108239370..108241707-chr11:108250690..108252551,2	K562	blood:
2	chr11:108239764..108241927-chr11:108367902..108370702,2	K562	blood:

Variant related genes	Relation type
ENSG00000178202	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10890838	1.00[CHB][hapmap]
rs11212548	1.00[CHB][hapmap]
rs11212567	1.00[EUR][1000 genomes]
rs11212571	1.00[EUR][1000 genomes]
rs11212574	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs11212576	1.00[EUR][1000 genomes]
rs11212582	1.00[EUR][1000 genomes]
rs11212590	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212593	1.00[ASN][1000 genomes]
rs11212596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212622	1.00[CHB][hapmap]
rs11212639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11212652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11212668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11212670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11212675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11512449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12360724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234993	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs3092838	1.00[AFR][1000 genomes]
rs3092910	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3218711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753840	1.00[CHB][hapmap]
rs4987947	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs4988005	1.00[EUR][1000 genomes]
rs4988007	1.00[EUR][1000 genomes]
rs4988033	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4988047	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4988063	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898383	chr11:108068954-108251211	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv898384	chr11:108097333-108251211	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv832262	chr11:108123831-108309350	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv832263	chr11:108183372-108384391	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108094800-108244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:108212200-108241400	Weak transcription	Hela-S3	cervix
3	chr11:108222800-108242200	Weak transcription	Fetal Intestine Small	intestine
4	chr11:108225400-108243200	Weak transcription	Fetal Heart	heart
5	chr11:108226400-108241400	Weak transcription	Thymus	Thymus
6	chr11:108226400-108244200	Weak transcription	Psoas Muscle	Psoas
7	chr11:108226400-108244600	Weak transcription	Gastric	stomach
8	chr11:108226600-108242000	Weak transcription	Lung	lung
9	chr11:108226600-108257400	Weak transcription	Right Ventricle	heart
10	chr11:108226800-108241400	Weak transcription	Aorta	Aorta
11	chr11:108226800-108241400	Weak transcription	NHEK	skin
12	chr11:108226800-108242800	Weak transcription	Placenta	Placenta
13	chr11:108226800-108243400	Weak transcription	Fetal Brain Male	brain
14	chr11:108227200-108240800	Weak transcription	Pancreas	Pancrea
15	chr11:108227200-108241400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:108227600-108240400	Weak transcription	GM12878-XiMat	blood
17	chr11:108227600-108243200	Weak transcription	NH-A	brain
18	chr11:108227600-108245600	Weak transcription	Fetal Brain Female	brain
19	chr11:108227800-108242000	Weak transcription	Brain Germinal Matrix	brain
20	chr11:108227800-108242800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr11:108227800-108243400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:108227800-108243400	Weak transcription	Brain Angular Gyrus	brain
23	chr11:108227800-108243800	Weak transcription	Fetal Kidney	kidney
24	chr11:108227800-108244200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:108227800-108245600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:108233800-108242400	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:108234000-108241000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:108234000-108242800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:108234200-108242000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr11:108234400-108242400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:108235200-108244000	Weak transcription	Osteobl	bone
32	chr11:108235400-108240400	Strong transcription	Liver	Liver
33	chr11:108235400-108240800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr11:108236000-108243200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:108236200-108243400	Weak transcription	Ovary	ovary
36	chr11:108236200-108243600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr11:108236200-108245000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:108236400-108242200	Weak transcription	HSMMtube	muscle
39	chr11:108236400-108244000	Weak transcription	HSMM	muscle
40	chr11:108236400-108244200	Weak transcription	Adipose Nuclei	Adipose
41	chr11:108236600-108241600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:108236600-108242000	Weak transcription	Spleen	Spleen
43	chr11:108236800-108240400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr11:108236800-108245600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr11:108237400-108243600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:108237600-108242600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr11:108237600-108243000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:108237600-108244000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr11:108237600-108244000	Weak transcription	Dnd41	blood
50	chr11:108237600-108244400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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