Variant report

Variant	rs1538728
Chromosome Location	chr8:131348360-131348361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131345122..131348664-chr8:131349728..131353324,3	K562	blood:
2	chr8:131338752..131343749-chr8:131347668..131351929,6	K562	blood:
3	chr8:131346527..131349689-chr8:131353512..131358068,4	K562	blood:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10091313	0.80[CHB][hapmap]
rs10091450	0.81[CHD][hapmap]
rs1017281	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs10956514	0.84[CEU][hapmap];0.86[CHB][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs1118887	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1123205	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11774690	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11774947	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11775292	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs12546206	0.85[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap]
rs13258946	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13265869	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1340021	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1469288	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs17212137	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17282526	0.80[CHB][hapmap]
rs17284725	0.84[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap]
rs1978550	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2033059	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs2114196	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs2185366	0.81[CEU][hapmap]
rs2554373	0.80[CHB][hapmap];0.84[CHD][hapmap];0.83[MEX][hapmap]
rs2894508	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3057	0.86[CHD][hapmap]
rs34656350	0.82[EUR][1000 genomes]
rs3935174	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4733571	0.85[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap]
rs4733572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4733775	0.81[CHB][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap]
rs4733776	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4733777	0.85[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4733780	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4733781	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs62525919	0.80[EUR][1000 genomes]
rs62525923	0.82[EUR][1000 genomes]
rs62525931	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6470805	0.95[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap]
rs6470812	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6470815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7002892	0.86[CHD][hapmap]
rs7012705	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7018225	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7460225	0.89[CHD][hapmap]
rs7464885	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs7817803	0.87[CHD][hapmap]
rs7832651	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7839155	0.85[CEU][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs7839523	0.89[CHD][hapmap]
rs876575	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs9643252	0.81[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][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	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	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
4	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131315600-131353400	Weak transcription	Dnd41	blood
2	chr8:131330200-131353400	Weak transcription	Aorta	Aorta
3	chr8:131336000-131350200	Weak transcription	Fetal Brain Female	brain
4	chr8:131336800-131353400	Weak transcription	Hela-S3	cervix
5	chr8:131337200-131358200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:131337400-131350800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:131338400-131350200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:131338400-131362400	Weak transcription	Fetal Intestine Large	intestine
9	chr8:131339600-131351000	Weak transcription	Lung	lung
10	chr8:131339600-131354200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:131339800-131357800	Weak transcription	Esophagus	oesophagus
12	chr8:131340400-131363200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:131341000-131350200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:131341200-131349000	Enhancers	Fetal Heart	heart
15	chr8:131342600-131357600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:131342800-131355000	Weak transcription	Pancreas	Pancrea
17	chr8:131343000-131350800	Weak transcription	HepG2	liver
18	chr8:131343000-131351000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:131343000-131351000	Weak transcription	HMEC	breast
20	chr8:131343400-131349000	Enhancers	Brain Germinal Matrix	brain
21	chr8:131343600-131350600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:131343800-131350800	Weak transcription	Thymus	Thymus
23	chr8:131343800-131359200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr8:131344000-131350200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr8:131344200-131349000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr8:131344400-131350800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:131344800-131351000	Weak transcription	NH-A	brain
28	chr8:131344800-131359200	Weak transcription	Fetal Lung	lung
29	chr8:131345400-131348800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr8:131345600-131351200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr8:131345800-131349600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr8:131346000-131348600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr8:131346000-131348600	Enhancers	Brain Substantia Nigra	brain
34	chr8:131346000-131348600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr8:131346000-131349000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:131346000-131349200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr8:131346000-131349200	Enhancers	Primary T cells from cord blood	blood
38	chr8:131346000-131349200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr8:131346000-131350200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:131346000-131351200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:131346200-131348600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:131346200-131348600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:131346400-131348400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr8:131346400-131348400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr8:131346400-131349200	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr8:131346400-131350200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr8:131346400-131350800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:131346400-131350800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:131346400-131351000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:131346400-131353400	Weak transcription	Fetal Muscle Trunk	muscle

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