Variant report

Variant	rs11212707
Chromosome Location	chr11:108430237-108430238
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	chr11:108425445..108426959-chr11:108428665..108430478,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12361570	1.00[LWK][hapmap]
rs12793497	1.00[ASW][hapmap]
rs2155440	1.00[CHB][hapmap];0.82[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11212707	SLC35F2	cis	cerebellum	SCAN
rs11212707	TRADD	trans	parietal	SCAN
rs11212707	KDELC2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108417200-108441400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:108422400-108441600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:108423000-108436000	Weak transcription	Fetal Intestine Small	intestine
4	chr11:108423400-108432200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:108423400-108432400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr11:108423400-108436000	Weak transcription	Liver	Liver
7	chr11:108423600-108441400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:108423800-108432200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:108424200-108439400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:108425200-108430600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:108426400-108432600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:108427800-108430800	Enhancers	GM12878-XiMat	blood
13	chr11:108427800-108432200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:108428600-108442000	Weak transcription	K562	blood
15	chr11:108429000-108430400	Strong transcription	NHEK	skin
16	chr11:108429000-108431000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr11:108429000-108432400	Enhancers	HSMMtube	muscle
18	chr11:108429200-108430400	Genic enhancers	Placenta Amnion	Placenta Amnion
19	chr11:108429200-108430800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr11:108429200-108430800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr11:108429200-108434600	Enhancers	HSMM	muscle
22	chr11:108429400-108430400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:108429400-108431000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:108429400-108431000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr11:108429600-108431000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr11:108429600-108431000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr11:108429600-108431200	Enhancers	HMEC	breast
28	chr11:108429600-108432200	Weak transcription	Aorta	Aorta
29	chr11:108429800-108430600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:108429800-108430600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:108429800-108430600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:108429800-108430800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:108429800-108431200	Enhancers	Adipose Nuclei	Adipose
34	chr11:108430000-108430400	Flanking Active TSS	NHLF	lung
35	chr11:108430000-108430600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:108430000-108430800	Flanking Active TSS	NHDF-Ad	bronchial
37	chr11:108430000-108431000	Enhancers	Primary T cells from cord blood	blood
38	chr11:108430000-108431000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:108430000-108431200	Enhancers	Fetal Lung	lung
40	chr11:108430000-108432400	Enhancers	NH-A	brain
41	chr11:108430200-108430400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:108430200-108430400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:108430200-108430400	Enhancers	Brain Hippocampus Middle	brain
44	chr11:108430200-108430600	Weak transcription	Placenta	Placenta
45	chr11:108430200-108430800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:108430200-108430800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:108430200-108431000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:108430200-108431000	Flanking Active TSS	Osteobl	bone
49	chr11:108430200-108431200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr11:108430200-108431400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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