Variant report

Variant	rs13262484
Chromosome Location	chr8:90774723-90774724
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr8:90774692-90775097	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:90774651..90777545-chr8:90807253..90809374,2	MCF-7	breast:
2	chr8:90774118..90777411-chr8:90913721..90915849,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251136	TF binding region
ENSG00000164823	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10091400	1.00[CHB][hapmap]
rs1024156	1.00[CHB][hapmap]
rs11992886	1.00[CHB][hapmap]
rs11995065	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995294	1.00[CHB][hapmap]
rs11998021	1.00[CHB][hapmap]
rs13250228	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13256893	0.84[ASN][1000 genomes]
rs13265005	1.00[ASN][1000 genomes]
rs13267411	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13270337	1.00[ASN][1000 genomes]
rs13281958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13312973	1.00[CHB][hapmap]
rs13312981	1.00[CHB][hapmap]
rs13312987	1.00[CHB][hapmap]
rs16901016	0.81[CEU][hapmap]
rs16901426	1.00[CHB][hapmap]
rs16901712	1.00[CHB][hapmap]
rs1805785	1.00[CHB][hapmap]
rs1805820	1.00[CHB][hapmap]
rs2230801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34038516	1.00[ASN][1000 genomes]
rs34099903	0.84[ASN][1000 genomes]
rs34211510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34541191	0.84[ASN][1000 genomes]
rs35168775	1.00[ASN][1000 genomes]
rs35183880	0.81[CEU][hapmap]
rs35353289	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35469651	0.84[ASN][1000 genomes]
rs35598276	1.00[ASN][1000 genomes]
rs35643733	1.00[ASN][1000 genomes]
rs35741091	1.00[ASN][1000 genomes]
rs35976220	0.84[ASN][1000 genomes]
rs36032938	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36139021	1.00[ASN][1000 genomes]
rs62532080	1.00[ASN][1000 genomes]
rs62532117	1.00[ASN][1000 genomes]
rs62533561	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6470477	1.00[CHB][hapmap]
rs6470521	1.00[CHB][hapmap]
rs6986890	1.00[CHB][hapmap]
rs6991439	0.84[ASN][1000 genomes]
rs6998735	1.00[CHB][hapmap]
rs6998924	0.84[ASN][1000 genomes]
rs7000851	1.00[CHB][hapmap]
rs7001024	1.00[CHB][hapmap]
rs7004411	1.00[CHB][hapmap]
rs7004759	1.00[CHB][hapmap]
rs7818989	1.00[CHB][hapmap]
rs7828593	1.00[CHB][hapmap]
rs7829683	1.00[CHB][hapmap]
rs7833230	1.00[ASN][1000 genomes]
rs7841459	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs983925	1.00[CHB][hapmap]

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	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13262484	SLC26A7	cis	parietal	SCAN
rs13262484	DCAF4L2	cis	cerebellum	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90771000-90797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:90771600-90803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:90771800-90777400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:90771800-90784400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr8:90771800-90805000	Weak transcription	Esophagus	oesophagus
6	chr8:90772000-90776200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr8:90772000-90777400	Weak transcription	Primary T cells from cord blood	blood
8	chr8:90772000-90778000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:90772000-90778400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:90772000-90784600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:90772000-90785000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:90772000-90785400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:90772000-90796800	Weak transcription	Lung	lung
14	chr8:90772000-90797000	Weak transcription	Ovary	ovary
15	chr8:90772200-90775800	Weak transcription	HSMM	muscle
16	chr8:90772200-90777600	Weak transcription	Placenta	Placenta
17	chr8:90772200-90778000	Weak transcription	Fetal Kidney	kidney
18	chr8:90772200-90778200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:90772200-90778200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:90772200-90778200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:90772200-90783600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr8:90772200-90783800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:90772200-90784600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr8:90772200-90785200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:90772200-90785600	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:90772200-90802000	Weak transcription	Colonic Mucosa	Colon
27	chr8:90772200-90802400	Weak transcription	Spleen	Spleen
28	chr8:90772200-90805200	Weak transcription	Fetal Brain Male	brain
29	chr8:90772200-90807200	Weak transcription	Pancreas	Pancrea
30	chr8:90772200-90809400	Weak transcription	Small Intestine	intestine
31	chr8:90772400-90775800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:90772400-90775800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:90772400-90776000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:90772400-90777600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr8:90772400-90777600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr8:90772400-90778200	Weak transcription	Fetal Intestine Large	intestine
37	chr8:90772400-90778200	Weak transcription	Fetal Lung	lung
38	chr8:90772400-90784000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:90772400-90784600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr8:90772400-90784800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr8:90772400-90784800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr8:90772400-90785200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:90772400-90787200	Weak transcription	Fetal Stomach	stomach
44	chr8:90772400-90790600	Weak transcription	NHEK	skin
45	chr8:90772400-90802200	Weak transcription	Colon Smooth Muscle	Colon
46	chr8:90772600-90775600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr8:90772600-90775800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:90772600-90775800	Weak transcription	NHLF	lung
49	chr8:90772600-90776200	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:90772600-90777800	Weak transcription	Liver	Liver

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