Variant report

Variant	rs612987
Chromosome Location	chr11:104835893-104835894
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs473086	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs477163	0.82[EUR][1000 genomes]
rs501944	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs540813	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs540819	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs560891	0.88[EUR][1000 genomes]
rs579408	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs623114	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs630003	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv832255	chr11:104674918-104846961	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv898355	chr11:104730322-104897843	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1040784	chr11:104763797-104855878	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv468862	chr11:104774014-105243371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv556218	chr11:104774014-105243371	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv898356	chr11:104779195-104838471	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	esv3385159	chr11:104786549-105051555	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv1041081	chr11:104797775-104912458	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv1044970	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv541160	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104813800-104837200	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:104814000-104838200	Weak transcription	Fetal Kidney	kidney
3	chr11:104817800-104837000	Weak transcription	Right Ventricle	heart
4	chr11:104821200-104836000	Weak transcription	Gastric	stomach
5	chr11:104821800-104836600	Weak transcription	Aorta	Aorta
6	chr11:104821800-104837400	Weak transcription	HSMMtube	muscle
7	chr11:104822000-104836800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:104824400-104836000	Weak transcription	Psoas Muscle	Psoas
9	chr11:104825400-104836400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:104825400-104836600	Weak transcription	Left Ventricle	heart
11	chr11:104825400-104836800	Weak transcription	Esophagus	oesophagus
12	chr11:104825400-104837400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:104825400-104838200	Weak transcription	HSMM	muscle
14	chr11:104825600-104836800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:104825800-104836600	Weak transcription	HUVEC	blood vessel
16	chr11:104827200-104836000	Weak transcription	NHDF-Ad	bronchial
17	chr11:104827600-104836000	Weak transcription	HMEC	breast
18	chr11:104829400-104837200	Weak transcription	GM12878-XiMat	blood
19	chr11:104829600-104836400	Weak transcription	Pancreas	Pancrea
20	chr11:104831600-104836400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr11:104831600-104837000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr11:104831800-104836000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr11:104832000-104837200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:104832200-104837400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr11:104832400-104836200	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr11:104832600-104836200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:104832600-104836800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:104832600-104837200	Weak transcription	Ovary	ovary
29	chr11:104832800-104836000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr11:104832800-104836000	Weak transcription	Spleen	Spleen
31	chr11:104832800-104836600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:104832800-104836600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:104832800-104837200	Weak transcription	Osteobl	bone
34	chr11:104833000-104836000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:104833000-104836000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:104833000-104836600	Weak transcription	NHLF	lung
37	chr11:104833000-104836800	Weak transcription	Lung	lung
38	chr11:104833400-104836000	Weak transcription	Placenta	Placenta
39	chr11:104833400-104836400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:104833400-104838400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:104833400-104838400	Weak transcription	Fetal Stomach	stomach
42	chr11:104833600-104836000	Weak transcription	NHEK	skin
43	chr11:104834000-104837200	ZNF genes & repeats	Dnd41	blood
44	chr11:104834600-104836000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr11:104834600-104836000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:104834600-104836000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:104834600-104836000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:104834600-104836000	Weak transcription	Liver	Liver
49	chr11:104834600-104836000	Weak transcription	Hela-S3	cervix
50	chr11:104834600-104836200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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