Variant report

Variant	rs1880634
Chromosome Location	chr8:102554712-102554713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:102540601..102548196-chr8:102552198..102557907,8	MCF-7	breast:
2	chr8:102538367..102540633-chr8:102553221..102554974,2	MCF-7	breast:
3	chr8:102552353..102555344-chr8:102561709..102563737,2	MCF-7	breast:
4	chr8:102553740..102555578-chr8:102612921..102614753,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253991	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10505010	0.82[AMR][1000 genomes]
rs10955256	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10955257	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11776316	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11776725	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11783704	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12114930	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13256544	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13263539	0.81[AMR][1000 genomes]
rs13265291	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17397776	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17397811	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17476242	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1880635	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1981361	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34216075	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60028447	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6984360	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs922466	0.92[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	nsv1024652	chr8:101802121-102587124	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
2	nsv539699	chr8:101802121-102587124	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription 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	186 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102527200-102555400	Weak transcription	Fetal Intestine Small	intestine
2	chr8:102527200-102556800	Weak transcription	Fetal Intestine Large	intestine
3	chr8:102550600-102555400	Weak transcription	Gastric	stomach
4	chr8:102550600-102557000	Weak transcription	Small Intestine	intestine
5	chr8:102550800-102558800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:102551200-102556200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:102551400-102555400	Weak transcription	Stomach Mucosa	stomach
8	chr8:102551400-102577400	Weak transcription	Fetal Stomach	stomach
9	chr8:102551600-102556800	Weak transcription	A549	lung
10	chr8:102551600-102557000	Weak transcription	HUVEC	blood vessel
11	chr8:102551800-102555400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:102551800-102555400	Weak transcription	Placenta	Placenta
13	chr8:102551800-102555400	Weak transcription	Pancreas	Pancrea
14	chr8:102552200-102555000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:102552200-102555400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:102552200-102555600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:102552200-102557000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:102552200-102558600	Weak transcription	Lung	lung
19	chr8:102552200-102564200	Weak transcription	Esophagus	oesophagus
20	chr8:102552200-102620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:102552800-102555000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:102552800-102556400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr8:102553000-102555000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:102553000-102555600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:102553000-102555600	Weak transcription	HMEC	breast
26	chr8:102553000-102563000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:102553000-102573600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:102553200-102555000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:102553400-102554800	Weak transcription	NHEK	skin
30	chr8:102554000-102564600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:102554200-102555400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr8:102554200-102555400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:102554200-102555400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:102554200-102569000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr8:102554200-102570600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:102554400-102555200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:102554400-102570400	Weak transcription	Duodenum Mucosa	Duodenum

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