Variant report

Variant	rs16899870
Chromosome Location	chr8:125632713-125632714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125551283..125554130-chr8:125630970..125633379,3	K562	blood:

Variant related genes	Relation type
ENSG00000147687	Chromatin interaction
ENSG00000147684	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1023694	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[AMR][1000 genomes]
rs11780712	0.94[ASN][1000 genomes]
rs16893079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899847	0.85[AMR][1000 genomes]
rs16899858	0.84[MEX][hapmap];0.95[AMR][1000 genomes]
rs16899867	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899873	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16899876	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]
rs1978662	0.93[CHB][hapmap];0.92[CHD][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs3750231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871521	0.92[ASN][1000 genomes]
rs919543	1.00[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap]
rs919547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs934323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125618000-125632800	Weak transcription	HUVEC	blood vessel
2	chr8:125618000-125640400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:125619200-125649000	Weak transcription	Colonic Mucosa	Colon
4	chr8:125624200-125633800	Enhancers	Brain Hippocampus Middle	brain
5	chr8:125624800-125633000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:125625200-125634400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr8:125626400-125638800	Weak transcription	HMEC	breast
8	chr8:125626600-125635600	Enhancers	Fetal Heart	heart
9	chr8:125627000-125633400	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr8:125627000-125633600	Enhancers	Brain Cingulate Gyrus	brain
11	chr8:125627200-125632800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr8:125627200-125633000	Enhancers	Brain Angular Gyrus	brain
13	chr8:125627200-125633400	Enhancers	Brain Substantia Nigra	brain
14	chr8:125627200-125633600	Enhancers	Brain Anterior Caudate	brain
15	chr8:125627200-125633800	Enhancers	Placenta	Placenta
16	chr8:125627200-125634200	Enhancers	Fetal Muscle Leg	muscle
17	chr8:125627200-125635400	Enhancers	Fetal Thymus	thymus
18	chr8:125627200-125635400	Enhancers	Left Ventricle	heart
19	chr8:125627200-125635400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr8:125627800-125632800	Weak transcription	K562	blood
21	chr8:125627800-125633600	Weak transcription	GM12878-XiMat	blood
22	chr8:125628200-125634600	Enhancers	Right Ventricle	heart
23	chr8:125628600-125633600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:125628800-125632800	Weak transcription	Fetal Kidney	kidney
25	chr8:125629000-125633400	Enhancers	NHDF-Ad	bronchial
26	chr8:125629000-125633600	Enhancers	HSMMtube	muscle
27	chr8:125629200-125633800	Enhancers	Right Atrium	heart
28	chr8:125629400-125634200	Enhancers	Fetal Muscle Trunk	muscle
29	chr8:125629400-125634200	Enhancers	Psoas Muscle	Psoas
30	chr8:125629400-125640200	Enhancers	Fetal Brain Male	brain
31	chr8:125629600-125633200	Weak transcription	Fetal Intestine Large	intestine
32	chr8:125629600-125634000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr8:125629600-125634200	Enhancers	Fetal Brain Female	brain
34	chr8:125629800-125633000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:125629800-125633000	Genic enhancers	Primary B cells from peripheral blood	blood
36	chr8:125630200-125633200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:125630400-125633800	Enhancers	Osteobl	bone
38	chr8:125630600-125633000	Enhancers	Hela-S3	cervix
39	chr8:125630600-125633400	Enhancers	Fetal Lung	lung
40	chr8:125630600-125634200	Enhancers	Stomach Smooth Muscle	stomach
41	chr8:125630800-125633400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr8:125630800-125633400	Enhancers	Fetal Stomach	stomach
43	chr8:125631000-125632800	Enhancers	Primary B cells from cord blood	blood
44	chr8:125631000-125633400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:125631200-125633000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:125631200-125633800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:125631400-125636200	Enhancers	Spleen	Spleen
48	chr8:125631600-125633200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr8:125631600-125633800	Enhancers	HSMM	muscle
50	chr8:125631800-125633200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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