Variant report

Variant	rs10112279
Chromosome Location	chr8:117716963-117716964
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117709911..117712447-chr8:117715749..117718560,2	K562	blood:
2	chr8:117716628..117720164-chr8:117721667..117723511,3	MCF-7	breast:
3	chr8:117716137..117718293-chr8:117779911..117781525,2	K562	blood:
4	chr8:117715299..117718067-chr8:117886293..117887879,2	MCF-7	breast:
5	chr8:117715437..117717321-chr8:117778264..117779972,2	MCF-7	breast:
6	chr8:117709011..117712281-chr8:117714781..117718785,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264875	Chromatin interaction
ENSG00000164754	Chromatin interaction
ENSG00000147677	Chromatin interaction
ENSG00000147679	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10085939	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10086419	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10088177	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10093551	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10096134	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10105610	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10112604	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10505282	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10505286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10505287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10808484	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs11781970	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12547058	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1317271	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13258529	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13262725	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13277714	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13277958	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1347626	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1436765	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1436766	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1529945	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2118108	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3088140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34519652	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35338453	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35905748	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4256624	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4278180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4289846	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4289847	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4335152	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4335153	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4422805	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4472547	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4601347	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4623456	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4629900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4645587	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55951040	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6469656	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6469657	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6980504	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6983032	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6988841	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7007250	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7013617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7464414	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7820778	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7830860	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7833054	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7836549	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7837313	0.81[JPT][hapmap]
rs7843852	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7846316	0.81[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117671000-117717600	Weak transcription	HepG2	liver
2	chr8:117699000-117719000	Weak transcription	Fetal Muscle Leg	muscle
3	chr8:117703400-117721200	Weak transcription	HSMM	muscle
4	chr8:117703800-117721000	Weak transcription	NH-A	brain
5	chr8:117704000-117720000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:117704600-117722000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:117706000-117720800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:117706600-117719200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:117707200-117718200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:117707200-117726800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:117707600-117721400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:117707800-117717600	Weak transcription	Stomach Mucosa	stomach
13	chr8:117707800-117721400	Weak transcription	NHDF-Ad	bronchial
14	chr8:117707800-117732600	Weak transcription	Fetal Thymus	thymus
15	chr8:117708000-117717000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:117708000-117717600	Weak transcription	Right Ventricle	heart
17	chr8:117708000-117717800	Weak transcription	Psoas Muscle	Psoas
18	chr8:117708000-117718800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:117708000-117718800	Weak transcription	Aorta	Aorta
20	chr8:117708000-117720200	Weak transcription	Thymus	Thymus
21	chr8:117708000-117721000	Weak transcription	HMEC	breast
22	chr8:117708000-117721400	Weak transcription	Dnd41	blood
23	chr8:117708000-117721600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:117708000-117733200	Weak transcription	Hela-S3	cervix
25	chr8:117708200-117721200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:117708400-117727000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:117708400-117727000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:117708600-117717000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:117708600-117717200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr8:117708600-117717600	Weak transcription	K562	blood
31	chr8:117708600-117721200	Weak transcription	NHEK	skin
32	chr8:117708600-117732800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr8:117708600-117733200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:117708600-117733200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr8:117709800-117717600	Weak transcription	Small Intestine	intestine
36	chr8:117709800-117721200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr8:117709800-117722200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:117710400-117717000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:117710400-117717000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr8:117710600-117722000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:117711200-117717000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr8:117711200-117717200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr8:117711600-117717600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr8:117711800-117722000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:117713000-117718400	Weak transcription	NHLF	lung
46	chr8:117713200-117730800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:117714000-117720800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:117714200-117720000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:117714600-117721000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:117714600-117722200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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