Variant report

Variant	rs186991005
Chromosome Location	chr11:58731388-58731389
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	chr11:58729566..58731391-chr11:58732930..58735906,2	K562	blood:

Variant related genes	Relation type
ENSG00000254877	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv3444895	chr11:58614102-58779384	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv3393019	chr11:58679419-58880845	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv428258	chr11:58700092-58878839	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
8	nsv832169	chr11:58700097-58861680	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv430387	chr11:58719050-58778643	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv832171	chr11:58725930-58878839	Bivalent Enhancer Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv469559	chr11:58730785-58887639	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv482906	chr11:58730785-58887639	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv471671	chr11:58730786-58887639	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58726600-58740000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr11:58730200-58739400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:58730600-58731800	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:58730800-58731400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr11:58730800-58731400	Active TSS	Fetal Intestine Large	intestine
6	chr11:58730800-58731600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr11:58730800-58731600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:58730800-58731600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:58730800-58731600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:58730800-58731600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:58730800-58731600	Active TSS	Fetal Brain Female	brain
12	chr11:58730800-58731600	Bivalent/Poised TSS	Fetal Stomach	stomach
13	chr11:58730800-58731600	Flanking Active TSS	NHEK	skin
14	chr11:58730800-58731800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr11:58730800-58731800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr11:58730800-58731800	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr11:58730800-58731800	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr11:58730800-58732000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr11:58731000-58731400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:58731000-58731400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:58731000-58731400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
22	chr11:58731000-58731400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:58731000-58731400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
24	chr11:58731000-58731400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr11:58731000-58731400	Active TSS	Fetal Kidney	kidney
26	chr11:58731000-58731400	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr11:58731000-58731400	Enhancers	Placenta	Placenta
28	chr11:58731000-58731400	Flanking Active TSS	Pancreas	Pancrea
29	chr11:58731000-58731400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
30	chr11:58731000-58731400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
31	chr11:58731000-58731600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:58731000-58731600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:58731000-58731600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:58731000-58731600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:58731000-58731600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:58731000-58731600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
37	chr11:58731000-58731600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
38	chr11:58731000-58731600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
39	chr11:58731000-58731600	Active TSS	Fetal Intestine Small	intestine
40	chr11:58731000-58731600	Active TSS	Gastric	stomach
41	chr11:58731000-58731600	Bivalent/Poised TSS	Stomach Mucosa	stomach
42	chr11:58731000-58731600	Active TSS	HSMM	muscle
43	chr11:58731000-58731600	Active TSS	NH-A	brain
44	chr11:58731000-58731800	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr11:58731200-58731400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:58731200-58731400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr11:58731200-58731400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:58731200-58731400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr11:58731200-58731400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
50	chr11:58731200-58731400	Enhancers	Right Atrium	heart

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