Variant report

Variant	rs588653
Chromosome Location	chr11:102294948-102294949
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102216748..102218580-chr11:102293322..102295377,2	K562	blood:
2	chr11:102293947..102296614-chr11:102319318..102322307,2	K562	blood:

Variant related genes	Relation type
ENSG00000110330	Chromatin interaction
ENSG00000152558	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11225273	1.00[AFR][1000 genomes]
rs630413	1.00[AFR][1000 genomes]
rs666576	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1035567	chr11:102264516-102431607	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv898334	chr11:102272884-102353192	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102273000-102302400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:102273200-102300800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:102277200-102297000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:102278600-102300600	Weak transcription	Esophagus	oesophagus
5	chr11:102281400-102296400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:102281400-102296600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:102281400-102297600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr11:102281600-102295200	Weak transcription	Gastric	stomach
9	chr11:102281600-102300000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:102281800-102298000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr11:102282200-102303400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:102283000-102300600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:102283200-102300400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:102284400-102299600	Weak transcription	Right Atrium	heart
15	chr11:102284400-102302200	Weak transcription	Aorta	Aorta
16	chr11:102284600-102308600	Weak transcription	Lung	lung
17	chr11:102286400-102297800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:102288200-102295400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:102288200-102299000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr11:102288400-102297000	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr11:102288400-102298000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:102288600-102300600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr11:102288800-102296200	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr11:102288800-102300400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr11:102289600-102297600	Enhancers	Brain Substantia Nigra	brain
26	chr11:102289600-102297800	Weak transcription	Fetal Lung	lung
27	chr11:102289800-102297400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:102289800-102297800	Enhancers	Brain Hippocampus Middle	brain
29	chr11:102289800-102298000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:102290000-102295600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr11:102290000-102295600	Weak transcription	Liver	Liver
32	chr11:102290200-102297400	Enhancers	Brain Cingulate Gyrus	brain
33	chr11:102290400-102295200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr11:102290600-102298200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:102290600-102301000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:102290800-102295600	Enhancers	Fetal Thymus	thymus
37	chr11:102291000-102295800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:102291000-102296400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:102291000-102298200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:102291000-102299600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:102291000-102301600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:102291000-102303200	Weak transcription	HMEC	breast
43	chr11:102291200-102296000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:102291200-102299000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr11:102291200-102302400	Weak transcription	NHEK	skin
46	chr11:102291600-102295000	Enhancers	Dnd41	blood
47	chr11:102291600-102296400	Weak transcription	Stomach Mucosa	stomach
48	chr11:102291600-102299600	Weak transcription	Small Intestine	intestine
49	chr11:102291600-102301200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:102291600-102302600	Weak transcription	A549	lung

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