Variant report

Variant	rs1017281
Chromosome Location	chr8:131247213-131247214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131242903..131244926-chr8:131246268..131247822,2	MCF-7	breast:
2	chr8:131224006..131226122-chr8:131244527..131247390,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10956511	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs10956514	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1118887	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1123205	0.85[CEU][hapmap];0.80[CHB][hapmap];0.86[JPT][hapmap]
rs11774690	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs11774947	0.92[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs11775292	0.89[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs12546206	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs12548888	0.90[ASN][1000 genomes]
rs12549794	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12677193	0.81[CHB][hapmap]
rs12680942	0.99[ASN][1000 genomes]
rs13258946	0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs1340021	0.92[CEU][hapmap];0.80[CHB][hapmap];0.86[JPT][hapmap]
rs1469288	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1538728	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs17212137	0.86[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17284725	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17285138	0.90[ASN][1000 genomes]
rs1978550	0.89[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2033059	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2114196	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2305513	0.81[CHB][hapmap]
rs2554374	0.81[CHB][hapmap]
rs2894508	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34656350	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3935174	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs4733571	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4733572	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs4733768	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4733775	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4733776	0.89[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4733777	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733780	0.92[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs4733781	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs62524650	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62525919	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525923	0.81[ASN][1000 genomes]
rs62525931	0.82[EUR][1000 genomes]
rs6470805	0.86[JPT][hapmap]
rs6470815	0.89[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs6991975	0.82[CHB][hapmap]
rs7012705	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7018225	0.89[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs72722365	0.91[ASN][1000 genomes]
rs7464885	0.81[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs7832651	0.89[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7834461	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs7837226	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs7839155	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs876575	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9643252	0.95[CHB][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131209600-131261200	Weak transcription	Esophagus	oesophagus
2	chr8:131210000-131250400	Weak transcription	Gastric	stomach
3	chr8:131214000-131255800	Weak transcription	Brain Angular Gyrus	brain
4	chr8:131214400-131257000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:131217000-131260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:131219000-131255000	Weak transcription	Thymus	Thymus
7	chr8:131219200-131248000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:131219800-131247800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:131220000-131254800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:131220000-131255000	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:131220200-131248000	Weak transcription	Brain Anterior Caudate	brain
12	chr8:131225200-131250200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:131225200-131253400	Weak transcription	Right Ventricle	heart
14	chr8:131225800-131274800	Weak transcription	Hela-S3	cervix
15	chr8:131226200-131248000	Weak transcription	Psoas Muscle	Psoas
16	chr8:131226200-131251600	Weak transcription	K562	blood
17	chr8:131227200-131251200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:131229400-131251600	Weak transcription	Aorta	Aorta
19	chr8:131232200-131257000	Weak transcription	Lung	lung
20	chr8:131232400-131261200	Weak transcription	Fetal Stomach	stomach
21	chr8:131233600-131248200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:131234200-131248000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:131234200-131248600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr8:131234600-131255600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:131234800-131255600	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:131237400-131268000	Weak transcription	Fetal Lung	lung
27	chr8:131237600-131258000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr8:131238200-131249600	Weak transcription	Fetal Brain Male	brain
29	chr8:131238600-131257000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:131239600-131247800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr8:131239600-131250400	Weak transcription	Ovary	ovary
32	chr8:131239600-131251600	Weak transcription	Fetal Heart	heart
33	chr8:131239800-131255200	Weak transcription	Small Intestine	intestine
34	chr8:131240600-131255000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:131240800-131247800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:131240800-131248200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr8:131240800-131248400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr8:131240800-131252000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr8:131240800-131255800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr8:131241000-131250800	Genic enhancers	HSMM	muscle
41	chr8:131241400-131248000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr8:131241800-131253200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:131242000-131248000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr8:131242400-131251400	Weak transcription	Fetal Intestine Small	intestine
45	chr8:131242400-131255000	Weak transcription	GM12878-XiMat	blood
46	chr8:131242400-131268200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr8:131243800-131249200	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr8:131244000-131249000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:131244000-131249200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:131244000-131249200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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