Variant report

Variant	rs4733571
Chromosome Location	chr8:131290664-131290665
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131274673..131277177-chr8:131288915..131291694,2	K562	blood:
2	chr8:131276972..131278899-chr8:131290636..131293294,2	K562	blood:
3	chr8:131290504..131292018-chr8:131292531..131294488,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1017281	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10956511	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs10956514	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1118887	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1123205	0.85[ASW][hapmap];0.92[CEU][hapmap];0.80[CHB][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs1158569	0.86[CHD][hapmap]
rs11774690	0.84[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs11774947	0.85[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs11775292	0.82[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap]
rs12546206	0.84[CEU][hapmap];0.86[CHB][hapmap];0.80[GIH][hapmap];0.82[JPT][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs12548888	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12549794	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12675390	0.81[LWK][hapmap]
rs12677193	0.81[CHB][hapmap]
rs12680942	0.95[ASN][1000 genomes]
rs13258946	0.85[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap]
rs1340021	0.85[CEU][hapmap];0.80[CHB][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap]
rs1469288	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1538728	0.85[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap]
rs17212137	0.82[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs17284725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17285138	0.93[ASN][1000 genomes]
rs1978550	0.82[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.82[ASN][1000 genomes]
rs2033059	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2114196	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2305513	0.81[CHB][hapmap];0.85[CHD][hapmap]
rs2554374	0.81[CHB][hapmap];0.86[CHD][hapmap]
rs2894508	0.85[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap]
rs34656350	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3935174	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4733572	0.85[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs4733768	0.84[CEU][hapmap];0.86[CHB][hapmap];0.80[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs4733775	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4733776	0.82[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap]
rs4733777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733780	0.85[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs4733781	0.82[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs62524640	0.80[EUR][1000 genomes]
rs62524650	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62525919	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62525923	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62525931	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6470805	0.86[JPT][hapmap]
rs6470812	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6470815	0.85[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs6470816	0.88[CHD][hapmap]
rs6991975	0.81[CHB][hapmap]
rs7012705	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7018225	0.82[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.88[TSI][hapmap]
rs72722365	0.85[ASN][1000 genomes]
rs7464885	0.88[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap]
rs7832651	0.80[ASW][hapmap];0.82[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap]
rs7834461	0.81[CHB][hapmap]
rs7837226	0.81[CHB][hapmap]
rs7839155	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs876575	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs9643252	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]

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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131268400-131291400	Weak transcription	Fetal Intestine Large	intestine
2	chr8:131270600-131291200	Weak transcription	Liver	Liver
3	chr8:131277400-131291200	Weak transcription	Thymus	Thymus
4	chr8:131282000-131291000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:131282000-131292200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:131282000-131292200	Weak transcription	HSMMtube	muscle
7	chr8:131282000-131298800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:131282200-131291000	Weak transcription	Small Intestine	intestine
9	chr8:131282400-131314800	Weak transcription	Gastric	stomach
10	chr8:131283800-131299200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:131285600-131292800	Enhancers	Brain Anterior Caudate	brain
12	chr8:131287200-131291200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:131287800-131291000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:131288000-131291200	Enhancers	Primary B cells from peripheral blood	blood
15	chr8:131288000-131292800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr8:131288200-131292800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr8:131288600-131291600	Enhancers	Primary B cells from cord blood	blood
18	chr8:131288600-131292200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr8:131288800-131291000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:131288800-131291400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:131288800-131296200	Weak transcription	K562	blood
22	chr8:131288800-131296600	Weak transcription	Colon Smooth Muscle	Colon
23	chr8:131289000-131291200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:131289000-131299600	Weak transcription	Pancreas	Pancrea
25	chr8:131289200-131290800	Enhancers	Primary T cells from cord blood	blood
26	chr8:131289200-131291200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr8:131289200-131291600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:131289200-131293000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr8:131289400-131291000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr8:131289400-131291400	Weak transcription	Lung	lung
31	chr8:131289400-131292200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr8:131289400-131295200	Enhancers	NHDF-Ad	bronchial
33	chr8:131289400-131297000	Weak transcription	Fetal Lung	lung
34	chr8:131289400-131300000	Weak transcription	Fetal Brain Female	brain
35	chr8:131289400-131303600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:131289400-131304200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:131289600-131290800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:131289600-131291000	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr8:131289600-131291000	Weak transcription	Fetal Thymus	thymus
40	chr8:131289600-131291200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr8:131289600-131291400	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr8:131289600-131291400	Weak transcription	Adipose Nuclei	Adipose
43	chr8:131289600-131291400	Weak transcription	Placenta	Placenta
44	chr8:131289600-131291400	Weak transcription	Right Ventricle	heart
45	chr8:131289600-131292200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:131289600-131292400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:131289600-131292400	Weak transcription	Brain Germinal Matrix	brain
48	chr8:131289600-131293400	Enhancers	NHLF	lung
49	chr8:131289600-131296800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:131289600-131296800	Weak transcription	Fetal Muscle Leg	muscle

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