Variant report

Variant	rs11990602
Chromosome Location	chr8:99820323-99820324
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	chr8:99818410..99822032-chr8:99835031..99838163,3	K562	blood:

Variant related genes	Relation type
ENSG00000104375	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11985594	1.00[AMR][1000 genomes]
rs11985761	1.00[AMR][1000 genomes]
rs11987144	1.00[AMR][1000 genomes]
rs11991346	1.00[AMR][1000 genomes]
rs11994002	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh 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	23 gene(s)	inside rSNPs	diseases
3	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv891220	chr8:99681858-99867419	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1025685	chr8:99706280-99826236	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv539691	chr8:99706280-99826236	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99809600-99820600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr8:99809800-99820400	Weak transcription	Osteobl	bone
3	chr8:99809800-99823000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:99809800-99823000	Weak transcription	HMEC	breast
5	chr8:99813200-99821000	Weak transcription	Left Ventricle	heart
6	chr8:99813400-99828200	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:99813800-99836400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:99813800-99836400	Weak transcription	Fetal Stomach	stomach
9	chr8:99814200-99826600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:99814400-99820800	Weak transcription	NHEK	skin
11	chr8:99814400-99821200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:99814400-99823000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:99814600-99821000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:99815600-99820400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:99817200-99822000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:99817800-99821000	Weak transcription	HUVEC	blood vessel
17	chr8:99818800-99821000	Weak transcription	Gastric	stomach
18	chr8:99818800-99821000	Weak transcription	Right Atrium	heart
19	chr8:99819000-99829600	Weak transcription	Stomach Mucosa	stomach
20	chr8:99819200-99821000	Weak transcription	Pancreas	Pancrea
21	chr8:99819400-99821400	Weak transcription	Lung	lung
22	chr8:99819600-99821600	Enhancers	Colon Smooth Muscle	Colon
23	chr8:99819800-99820400	Enhancers	Hela-S3	cervix
24	chr8:99819800-99820600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:99819800-99821000	Weak transcription	Psoas Muscle	Psoas
26	chr8:99819800-99821200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:99819800-99821200	Enhancers	Fetal Intestine Small	intestine
28	chr8:99819800-99821200	Enhancers	A549	lung
29	chr8:99819800-99821600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:99819800-99821600	Enhancers	Liver	Liver
31	chr8:99819800-99821600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr8:99819800-99821600	Flanking Active TSS	GM12878-XiMat	blood
33	chr8:99819800-99821800	Enhancers	NHDF-Ad	bronchial
34	chr8:99820000-99820400	Enhancers	Rectal Smooth Muscle	rectum
35	chr8:99820000-99820800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr8:99820000-99821200	Enhancers	Small Intestine	intestine
37	chr8:99820000-99821400	Enhancers	Fetal Intestine Large	intestine
38	chr8:99820000-99821400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr8:99820000-99821400	Enhancers	NHLF	lung
40	chr8:99820000-99821800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:99820000-99821800	Enhancers	Ovary	ovary
42	chr8:99820200-99820400	Enhancers	Adipose Nuclei	Adipose
43	chr8:99820200-99820400	Enhancers	Brain Substantia Nigra	brain
44	chr8:99820200-99820400	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr8:99820200-99820400	Enhancers	K562	blood
46	chr8:99820200-99820600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:99820200-99821000	Enhancers	HepG2	liver
48	chr8:99820200-99821200	Enhancers	Duodenum Mucosa	Duodenum
49	chr8:99820200-99821400	Enhancers	Fetal Lung	lung
50	chr8:99820200-99823400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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