Variant report

Variant	rs16899876
Chromosome Location	chr8:125634227-125634228
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125617943..125619581-chr8:125634142..125635689,2	MCF-7	breast:
2	chr8:125633171..125635240-chr8:125826139..125827745,2	K562	blood:
3	chr8:125627070..125629934-chr8:125632719..125634846,3	MCF-7	breast:
4	chr8:125612814..125615760-chr8:125633256..125635974,2	MCF-7	breast:
5	chr8:125633578..125635485-chr8:125639312..125641576,2	K562	blood:
6	chr8:125621603..125623262-chr8:125633980..125636812,2	K562	blood:
7	chr8:125629075..125631557-chr8:125633717..125635693,2	K562	blood:
8	chr8:125629075..125632423-chr8:125634166..125635871,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1023694	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs11780712	0.92[ASN][1000 genomes]
rs12545201	1.00[AFR][1000 genomes]
rs16893079	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16899847	0.85[AMR][1000 genomes]
rs16899858	0.89[AMR][1000 genomes]
rs16899867	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16899868	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16899870	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16899873	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16899898	1.00[AFR][1000 genomes]
rs1978662	0.84[CHB][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs3750231	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871521	0.94[ASN][1000 genomes]
rs919543	1.00[CEU][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs919547	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs934323	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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:74 , 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	chr8:125625200-125634400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:125626400-125638800	Weak transcription	HMEC	breast
5	chr8:125626600-125635600	Enhancers	Fetal Heart	heart
6	chr8:125627200-125635400	Enhancers	Fetal Thymus	thymus
7	chr8:125627200-125635400	Enhancers	Left Ventricle	heart
8	chr8:125627200-125635400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr8:125628200-125634600	Enhancers	Right Ventricle	heart
10	chr8:125629400-125640200	Enhancers	Fetal Brain Male	brain
11	chr8:125631400-125636200	Enhancers	Spleen	Spleen
12	chr8:125631800-125634600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr8:125631800-125634800	Enhancers	Liver	Liver
14	chr8:125631800-125634800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr8:125631800-125635800	Enhancers	Adipose Nuclei	Adipose
16	chr8:125631800-125636000	Enhancers	Brain Germinal Matrix	brain
17	chr8:125631800-125638200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:125631800-125638400	Weak transcription	Esophagus	oesophagus
19	chr8:125631800-125639200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:125631800-125639200	Weak transcription	Pancreas	Pancrea
21	chr8:125631800-125639800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:125632000-125638600	Weak transcription	NHEK	skin
23	chr8:125632200-125634600	Enhancers	HepG2	liver
24	chr8:125632200-125638800	Weak transcription	Gastric	stomach
25	chr8:125632400-125634400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr8:125632400-125640200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:125632400-125640600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:125632800-125636400	Weak transcription	Fetal Intestine Small	intestine
29	chr8:125633000-125634400	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:125633000-125634800	Enhancers	Primary B cells from peripheral blood	blood
31	chr8:125633000-125636600	Weak transcription	Brain Angular Gyrus	brain
32	chr8:125633200-125636600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:125633400-125634800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:125633400-125636400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr8:125633400-125636800	Weak transcription	Brain Substantia Nigra	brain
36	chr8:125633400-125637000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:125633400-125637600	Weak transcription	Fetal Stomach	stomach
38	chr8:125633400-125638000	Weak transcription	Fetal Lung	lung
39	chr8:125633400-125639000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:125633400-125639600	Weak transcription	NHDF-Ad	bronchial
41	chr8:125633400-125643200	Weak transcription	Fetal Kidney	kidney
42	chr8:125633600-125634400	Weak transcription	Primary B cells from cord blood	blood
43	chr8:125633600-125635000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:125633600-125636400	Weak transcription	Brain Anterior Caudate	brain
45	chr8:125633600-125636400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr8:125633800-125634600	Weak transcription	Placenta	Placenta
47	chr8:125633800-125634600	Enhancers	Thymus	Thymus
48	chr8:125633800-125634800	Weak transcription	Right Atrium	heart
49	chr8:125633800-125635200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:125633800-125635200	Weak transcription	K562	blood

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