Variant report

Variant	rs28619907
Chromosome Location	chr8:52797072-52797073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:52796441..52798988-chr8:52800960..52803935,3	K562	blood:
2	chr8:52794319..52797948-chr8:52808305..52812349,5	K562	blood:
3	chr8:52796166..52799538-chr8:52799577..52802890,4	MCF-7	breast:
4	chr8:52795079..52798065-chr8:52810619..52812856,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168300	Chromatin interaction
ENSG00000253475	Chromatin interaction
ENSG00000228801	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10086425	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10090429	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10094042	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10105030	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1013621	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1013622	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774370	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11781801	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11782727	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11786818	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12335014	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12677168	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13249855	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13252779	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13252785	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13256197	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13263909	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13267241	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13268494	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13270008	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13275077	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13276858	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13279123	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1467197	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1515688	0.86[ASN][1000 genomes]
rs1517306	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16916858	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2176121	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395826	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2395827	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34619309	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35293585	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4242474	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4242475	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4242476	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4285479	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4565453	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4573263	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4587317	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4873611	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6473660	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6473667	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6982622	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6983708	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6986544	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6988122	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6990379	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6993367	0.84[ASN][1000 genomes]
rs7000135	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7001651	0.89[ASN][1000 genomes]
rs7004698	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7009748	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7013360	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7017926	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs718251	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs722495	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7461587	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7462096	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7814421	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7827298	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7827346	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7835856	0.83[ASN][1000 genomes]
rs7843189	0.90[ASN][1000 genomes]
rs925762	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9298462	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[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	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52771000-52797800	Weak transcription	Fetal Stomach	stomach
2	chr8:52771800-52810800	Weak transcription	Esophagus	oesophagus
3	chr8:52772200-52807600	Weak transcription	HSMMtube	muscle
4	chr8:52773000-52803200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:52773600-52797200	Weak transcription	Placenta	Placenta
6	chr8:52779400-52809000	Weak transcription	Fetal Kidney	kidney
7	chr8:52780800-52803200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:52782200-52809600	Weak transcription	Aorta	Aorta
9	chr8:52783000-52797200	Weak transcription	HSMM	muscle
10	chr8:52783000-52803200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:52783000-52803400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:52783000-52803600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:52783200-52797200	Weak transcription	Fetal Brain Female	brain
14	chr8:52784000-52806600	Weak transcription	Hela-S3	cervix
15	chr8:52784200-52806600	Weak transcription	A549	lung
16	chr8:52786400-52797200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:52786800-52797200	Weak transcription	GM12878-XiMat	blood
18	chr8:52788600-52797200	Weak transcription	Spleen	Spleen
19	chr8:52789200-52799600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:52792000-52797800	Weak transcription	Dnd41	blood
21	chr8:52794600-52797200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr8:52795200-52798000	Weak transcription	Right Ventricle	heart
23	chr8:52795200-52799400	Weak transcription	Ovary	ovary
24	chr8:52795600-52798400	Enhancers	Brain Hippocampus Middle	brain
25	chr8:52795600-52800200	Enhancers	Primary T cells from cord blood	blood
26	chr8:52795800-52797400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:52795800-52797600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr8:52795800-52798200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:52795800-52798800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr8:52796000-52797200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:52796000-52797600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr8:52796000-52799800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr8:52796200-52797200	Enhancers	Fetal Intestine Small	intestine
34	chr8:52796200-52797600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:52796200-52797600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr8:52796200-52797600	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr8:52796200-52797600	Flanking Active TSS	HUVEC	blood vessel
38	chr8:52796200-52797800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr8:52796200-52798000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr8:52796200-52798200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr8:52796200-52798200	Enhancers	Brain Substantia Nigra	brain
42	chr8:52796200-52798200	Enhancers	Rectal Smooth Muscle	rectum
43	chr8:52796200-52798400	Enhancers	Adipose Nuclei	Adipose
44	chr8:52796200-52798400	Enhancers	Brain Cingulate Gyrus	brain
45	chr8:52796200-52798400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:52796200-52798600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:52796200-52798600	Enhancers	Brain Germinal Matrix	brain
48	chr8:52796200-52798800	Enhancers	Small Intestine	intestine
49	chr8:52796200-52800000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr8:52796200-52800200	Enhancers	Colon Smooth Muscle	Colon

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