Variant report

Variant	rs11984876
Chromosome Location	chr8:86134832-86134833
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	chr8:86125325..86127241-chr8:86134278..86135853,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11988348	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11991103	1.00[AFR][1000 genomes]
rs11991468	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs11993595	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11994390	1.00[AFR][1000 genomes]
rs11994774	0.90[AFR][1000 genomes]
rs11998639	0.90[AFR][1000 genomes]
rs11998727	1.00[YRI][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	esv3481417	chr8:85279453-86145229	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3481418	chr8:85279453-86145229	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv971329	chr8:86094967-86183119	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86131400-86135000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:86131600-86135000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr8:86131600-86135400	Active TSS	GM12878-XiMat	blood
4	chr8:86132000-86135200	Active TSS	Fetal Intestine Large	intestine
5	chr8:86133000-86143200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:86133000-86145800	Weak transcription	Gastric	stomach
7	chr8:86133200-86135000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:86133200-86135200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:86133600-86135200	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr8:86133600-86135600	Weak transcription	Osteobl	bone
11	chr8:86133600-86137200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:86133800-86135200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:86133800-86135200	Active TSS	Duodenum Mucosa	Duodenum
14	chr8:86133800-86157200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:86134000-86135000	Enhancers	Primary B cells from peripheral blood	blood
16	chr8:86134000-86135000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr8:86134000-86135000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr8:86134000-86135800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:86134200-86135000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:86134200-86135000	Enhancers	K562	blood
21	chr8:86134200-86135200	Enhancers	Primary B cells from cord blood	blood
22	chr8:86134200-86135600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:86134200-86136000	Enhancers	Liver	Liver
24	chr8:86134200-86136200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:86134200-86136400	Enhancers	NHEK	skin
26	chr8:86134400-86135000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:86134400-86135000	Weak transcription	Stomach Mucosa	stomach
28	chr8:86134400-86135000	Enhancers	Dnd41	blood
29	chr8:86134400-86135800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:86134400-86137000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:86134600-86135000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr8:86134600-86135000	Enhancers	Thymus	Thymus
33	chr8:86134600-86135000	Flanking Active TSS	HMEC	breast
34	chr8:86134600-86135200	Flanking Active TSS	HepG2	liver
35	chr8:86134600-86136200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:86134600-86157200	Weak transcription	Right Atrium	heart
37	chr8:86134800-86135000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr8:86134800-86135000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr8:86134800-86135000	Enhancers	Esophagus	oesophagus
40	chr8:86134800-86135000	Enhancers	Fetal Kidney	kidney
41	chr8:86134800-86135000	Enhancers	Left Ventricle	heart
42	chr8:86134800-86135200	Flanking Active TSS	Fetal Intestine Small	intestine
43	chr8:86134800-86135800	Enhancers	Fetal Lung	lung
44	chr8:86134800-86136000	Weak transcription	Primary hematopoietic stem cells	blood

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