Variant report

Variant	rs9656954
Chromosome Location	chr8:125378200-125378201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125340865..125342625-chr8:125376929..125379138,2	MCF-7	breast:
2	chr8:125282103..125284390-chr8:125377219..125378922,2	MCF-7	breast:
3	chr8:125375411..125378437-chr8:125382483..125385069,3	K562	blood:

Variant related genes	Relation type
ENSG00000253227	Chromatin interaction
ENSG00000164983	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10102946	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10107757	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10111526	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10217100	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11786409	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11994409	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12682324	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13250065	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13264575	0.83[EUR][1000 genomes]
rs4131904	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4351403	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4592013	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62530025	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6980763	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6986235	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7004196	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7004771	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv521356	chr8:125309055-125404763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv527751	chr8:125338216-125431030	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9656954	LOC286052	Cis_1M	lymphoblastoid	RTeQTL
rs9656954	RP11-383J24.6	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125362800-125382800	Weak transcription	Ovary	ovary
2	chr8:125364400-125378400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:125367000-125378400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:125367000-125380600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:125367200-125382000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:125371400-125380600	Weak transcription	Fetal Brain Female	brain
7	chr8:125371400-125382800	Weak transcription	Fetal Intestine Large	intestine
8	chr8:125372000-125378200	Weak transcription	Psoas Muscle	Psoas
9	chr8:125372000-125380600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:125372600-125378200	Weak transcription	Left Ventricle	heart
11	chr8:125372600-125380800	Weak transcription	Right Ventricle	heart
12	chr8:125373200-125381000	Weak transcription	Brain Germinal Matrix	brain
13	chr8:125374800-125380600	Weak transcription	Right Atrium	heart
14	chr8:125375600-125380000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:125376200-125378200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr8:125376200-125378400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr8:125376200-125378600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr8:125376200-125379200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr8:125376200-125379400	Enhancers	Primary B cells from peripheral blood	blood
20	chr8:125376200-125379600	Enhancers	Primary T cells from cord blood	blood
21	chr8:125376200-125379600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:125376200-125379600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr8:125376200-125380600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr8:125376200-125380600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:125376200-125381600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:125376400-125382000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr8:125376600-125382000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:125376800-125380800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:125376800-125380800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr8:125376800-125381600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:125376800-125381600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:125376800-125382800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:125376800-125383400	Weak transcription	Esophagus	oesophagus
34	chr8:125377000-125381600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:125377000-125382000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:125377200-125379000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr8:125377200-125380600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:125377200-125380800	Weak transcription	Fetal Intestine Small	intestine
39	chr8:125377200-125380800	Weak transcription	NH-A	brain
40	chr8:125377200-125381400	Weak transcription	Colon Smooth Muscle	Colon
41	chr8:125377200-125381600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:125377200-125381600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:125377200-125381600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr8:125377200-125381800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:125377200-125381800	Weak transcription	NHEK	skin
46	chr8:125377200-125382000	Weak transcription	Adipose Nuclei	Adipose
47	chr8:125377200-125382000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr8:125377200-125382400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr8:125377200-125382400	Weak transcription	Osteobl	bone
50	chr8:125377200-125382800	Weak transcription	Fetal Kidney	kidney

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