Variant report

Variant	rs16900684
Chromosome Location	chr8:90807620-90807621
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	chr8:90774651..90777545-chr8:90807253..90809374,2	MCF-7	breast:
2	chr8:90806351..90809015-chr8:90995258..90997957,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104320	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10087807	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10097279	0.93[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10100184	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10102596	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10113478	0.84[JPT][hapmap]
rs10504881	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16900627	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16900650	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1978129	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2158131	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs218906	0.84[JPT][hapmap]
rs218924	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[ASN][1000 genomes]
rs218926	0.86[ASN][1000 genomes]
rs218927	0.86[ASN][1000 genomes]
rs218937	0.86[ASN][1000 genomes]
rs218939	0.86[ASN][1000 genomes]
rs28565967	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28657795	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56017098	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs60569724	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6981112	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73291423	0.86[ASN][1000 genomes]
rs73293110	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73694475	0.86[ASN][1000 genomes]
rs7844627	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9297722	0.83[JPT][hapmap]
rs9297727	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90772200-90809400	Weak transcription	Small Intestine	intestine
2	chr8:90773000-90812400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:90783800-90829000	Weak transcription	Aorta	Aorta
4	chr8:90785600-90813800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:90785800-90810800	Weak transcription	Fetal Brain Female	brain
6	chr8:90786000-90813000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:90786400-90809800	Weak transcription	HepG2	liver
8	chr8:90795000-90808400	Weak transcription	NHEK	skin
9	chr8:90797200-90808400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:90799400-90810200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:90799400-90814000	Weak transcription	Gastric	stomach
12	chr8:90799800-90811800	Weak transcription	Fetal Kidney	kidney
13	chr8:90800000-90808400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:90801000-90808000	Weak transcription	Fetal Stomach	stomach
15	chr8:90801000-90809600	Weak transcription	Fetal Intestine Small	intestine
16	chr8:90801200-90809800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:90802400-90808000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:90802600-90808400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:90802600-90808400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:90802600-90808400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:90802600-90809200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:90802600-90809600	Weak transcription	Brain Substantia Nigra	brain
23	chr8:90802600-90810200	Weak transcription	Fetal Intestine Large	intestine
24	chr8:90802600-90814200	Weak transcription	K562	blood
25	chr8:90802800-90807800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:90803000-90807800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:90803000-90808400	Weak transcription	HMEC	breast
28	chr8:90803000-90808400	Weak transcription	HUVEC	blood vessel
29	chr8:90803000-90808400	Weak transcription	NHLF	lung
30	chr8:90803000-90811000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr8:90803000-90813400	Weak transcription	Hela-S3	cervix
32	chr8:90803200-90808400	Weak transcription	NH-A	brain
33	chr8:90803200-90810400	Weak transcription	Colonic Mucosa	Colon
34	chr8:90803600-90810400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr8:90803600-90811200	Weak transcription	Primary T cells from cord blood	blood
36	chr8:90803600-90813800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:90804200-90808000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:90804200-90808400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr8:90804400-90808000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:90804400-90809200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr8:90804400-90809600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:90804600-90808400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:90805200-90808000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr8:90805200-90808400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:90805400-90808000	Weak transcription	GM12878-XiMat	blood
46	chr8:90805400-90808200	Weak transcription	Osteobl	bone
47	chr8:90805400-90808400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:90805400-90808400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr8:90805400-90817000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr8:90805600-90808400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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