Variant report

Variant	rs11986571
Chromosome Location	chr8:125636056-125636057
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:125634289-125636640	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:125635175..125638018-chr8:125739345..125741656,2	MCF-7	breast:
2	chr8:125634912..125639122-chr8:125652761..125656973,4	K562	blood:
3	chr8:125621603..125623262-chr8:125633980..125636812,2	K562	blood:
4	chr8:125635200..125638584-chr8:125825947..125829303,4	K562	blood:

Variant related genes	Relation type
MTSS1	TF binding region
ENSG00000255491	Chromatin interaction
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16899667	1.00[AMR][1000 genomes]
rs60555181	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125618000-125640400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:125619200-125649000	Weak transcription	Colonic Mucosa	Colon
3	chr8:125626400-125638800	Weak transcription	HMEC	breast
4	chr8:125629400-125640200	Enhancers	Fetal Brain Male	brain
5	chr8:125631400-125636200	Enhancers	Spleen	Spleen
6	chr8:125631800-125638200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:125631800-125638400	Weak transcription	Esophagus	oesophagus
8	chr8:125631800-125639200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:125631800-125639200	Weak transcription	Pancreas	Pancrea
10	chr8:125631800-125639800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:125632000-125638600	Weak transcription	NHEK	skin
12	chr8:125632200-125638800	Weak transcription	Gastric	stomach
13	chr8:125632400-125640200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:125632400-125640600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:125632800-125636400	Weak transcription	Fetal Intestine Small	intestine
16	chr8:125633000-125636600	Weak transcription	Brain Angular Gyrus	brain
17	chr8:125633200-125636600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:125633400-125636400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:125633400-125636800	Weak transcription	Brain Substantia Nigra	brain
20	chr8:125633400-125637000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:125633400-125637600	Weak transcription	Fetal Stomach	stomach
22	chr8:125633400-125638000	Weak transcription	Fetal Lung	lung
23	chr8:125633400-125639000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:125633400-125639600	Weak transcription	NHDF-Ad	bronchial
25	chr8:125633400-125643200	Weak transcription	Fetal Kidney	kidney
26	chr8:125633600-125636400	Weak transcription	Brain Anterior Caudate	brain
27	chr8:125633600-125636400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr8:125633800-125636200	Weak transcription	Lung	lung
29	chr8:125633800-125636400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:125633800-125636400	Weak transcription	Brain Hippocampus Middle	brain
31	chr8:125633800-125636800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:125633800-125637400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:125633800-125637600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:125633800-125638200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:125633800-125638600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:125633800-125638800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:125633800-125639200	Weak transcription	Stomach Mucosa	stomach
38	chr8:125633800-125639600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:125633800-125641000	Weak transcription	Osteobl	bone
40	chr8:125633800-125642400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:125634200-125636200	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:125634200-125638000	Weak transcription	Psoas Muscle	Psoas
43	chr8:125634200-125639000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:125634200-125639600	Weak transcription	GM12878-XiMat	blood
45	chr8:125634400-125641800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr8:125634600-125636600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr8:125634600-125637400	Weak transcription	Right Ventricle	heart
48	chr8:125634800-125636200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr8:125634800-125636800	Weak transcription	Liver	Liver
50	chr8:125634800-125637200	Weak transcription	Primary B cells from cord blood	blood

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