Variant report

Variant	rs13258946
Chromosome Location	chr8:131356392-131356393
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr8:131354549-131356432	K562	blood:	n/a	chr8:131355529-131355538

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:131346527..131349689-chr8:131353512..131358068,4	K562	blood:
2	chr8:131354832..131358250-chr8:131366944..131369534,3	MCF-7	breast:
3	chr8:131295881..131297673-chr8:131355533..131357143,2	K562	blood:
4	chr8:131354026..131357067-chr8:131366453..131369277,3	K562	blood:
5	chr8:131356285..131362086-chr8:131362586..131365729,5	MCF-7	breast:
6	chr8:131341482..131343785-chr8:131354519..131356819,2	K562	blood:

No data

Variant related genes	Relation type
ASAP1	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10091313	0.80[CHB][hapmap]
rs1017281	0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs10956514	0.85[CEU][hapmap];0.86[CHB][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap]
rs1118887	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs1123205	0.92[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1158570	0.81[CHD][hapmap]
rs11774690	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs11774947	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11775292	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs12546206	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs13265869	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1340021	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1340022	0.87[CHD][hapmap]
rs1469288	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs1538728	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]
rs17212137	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs17282526	0.80[CHB][hapmap];0.83[MEX][hapmap]
rs17284725	0.85[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap]
rs1978550	0.96[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];0.87[EUR][1000 genomes]
rs2033059	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2114196	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2185366	0.82[CEU][hapmap]
rs2554369	0.81[CHD][hapmap]
rs2554373	0.80[CHB][hapmap];0.84[CHD][hapmap]
rs2894508	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs34656350	0.81[EUR][1000 genomes]
rs3935174	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4733571	0.85[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap]
rs4733572	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs4733775	0.81[CHB][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap]
rs4733776	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs4733777	0.85[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs4733780	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4733781	0.84[ASW][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs62525923	0.80[EUR][1000 genomes]
rs62525931	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6470805	0.95[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap]
rs6470812	0.81[EUR][1000 genomes]
rs6470815	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7002892	0.86[CHD][hapmap]
rs7012705	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs7018225	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7464885	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap]
rs7832651	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs7839155	0.85[CEU][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap]
rs876575	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs9643252	0.81[CHB][hapmap];0.82[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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131337200-131358200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:131338400-131362400	Weak transcription	Fetal Intestine Large	intestine
3	chr8:131339800-131357800	Weak transcription	Esophagus	oesophagus
4	chr8:131340400-131363200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:131342600-131357600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:131343800-131359200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:131344800-131359200	Weak transcription	Fetal Lung	lung
8	chr8:131346400-131368800	Weak transcription	Fetal Intestine Small	intestine
9	chr8:131347600-131357800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr8:131347600-131368000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:131347800-131357800	Weak transcription	Small Intestine	intestine
12	chr8:131348000-131357600	Weak transcription	Fetal Brain Male	brain
13	chr8:131348000-131357800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr8:131348600-131357000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:131348600-131358200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:131348600-131358800	Weak transcription	Gastric	stomach
17	chr8:131348800-131357600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:131349000-131356400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr8:131349000-131356800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:131349000-131359400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:131350400-131356800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:131350600-131356400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:131350600-131357000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:131350800-131356800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:131351200-131356600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr8:131351200-131356600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:131351200-131356800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:131351200-131357200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:131351200-131357600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:131351200-131357800	Weak transcription	HSMMtube	muscle
31	chr8:131351200-131358000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr8:131351400-131358000	Weak transcription	Colon Smooth Muscle	Colon
33	chr8:131351600-131356400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:131351600-131359000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:131352800-131356800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr8:131353800-131357800	Weak transcription	Fetal Thymus	thymus
37	chr8:131353800-131367600	Weak transcription	Dnd41	blood
38	chr8:131354000-131358000	Weak transcription	HMEC	breast
39	chr8:131354000-131358600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:131354200-131360000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr8:131354400-131358400	Weak transcription	Thymus	Thymus
42	chr8:131354400-131363400	Enhancers	Fetal Heart	heart
43	chr8:131354400-131368800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:131354400-131368800	Weak transcription	Colonic Mucosa	Colon
45	chr8:131354600-131356400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:131354600-131357400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:131354600-131357800	Weak transcription	NHEK	skin
48	chr8:131354600-131358200	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr8:131354600-131358400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:131354600-131359400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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