Variant report

Variant	rs6984360
Chromosome Location	chr8:102555301-102555302
allele	A/G
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	chr8:102552353..102555344-chr8:102561709..102563737,2	MCF-7	breast:
3	chr8:102553740..102555578-chr8:102612921..102614753,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253991	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10505010	0.84[CEU][hapmap];0.83[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10955256	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10955257	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11776316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.83[MEX][hapmap];0.90[MKK][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11776725	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11783704	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12114930	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13256544	0.82[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13263539	0.84[ASW][hapmap];0.84[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13265291	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17397776	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.82[LWK][hapmap];0.82[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17397811	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.83[MEX][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17476242	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1880634	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1880635	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1981361	0.92[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2127034	0.84[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2127035	0.84[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34216075	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs579505	0.82[ASW][hapmap]
rs60028447	0.87[AMR][1000 genomes];0.95[EUR][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	chr8:102552200-102555400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:102552200-102555600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:102552200-102557000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:102552200-102558600	Weak transcription	Lung	lung
18	chr8:102552200-102564200	Weak transcription	Esophagus	oesophagus
19	chr8:102552200-102620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:102552800-102556400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:102553000-102555600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:102553000-102555600	Weak transcription	HMEC	breast
23	chr8:102553000-102563000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:102553000-102573600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:102554000-102564600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:102554200-102555400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr8:102554200-102555400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:102554200-102555400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:102554200-102569000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:102554200-102570600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:102554400-102570400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr8:102554800-102562600	Strong transcription	NHEK	skin
33	chr8:102555000-102557200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:102555000-102557600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:102555000-102557800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr8:102555000-102560800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:102555200-102557800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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