Variant report

Variant	rs1340020
Chromosome Location	chr8:131356001-131356002
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:131355505-131356069	GM12878	blood:	n/a	n/a
2	UBTF	chr8:131355349-131356047	K562	blood:	n/a	n/a
3	GATA1	chr8:131354549-131356432	K562	blood:	n/a	chr8:131355529-131355538
4	POLR2A	chr8:131354522-131356029	SK-N-SH	brain:	n/a	n/a
5	TBL1XR1	chr8:131355241-131356091	K562	blood:	n/a	n/a
6	GATA1	chr8:131354972-131356072	PBDE	blood:	n/a	chr8:131355529-131355538
7	STAT3	chr8:131355947-131356016	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr8:131354760-131356118	PBDE	blood:	n/a	n/a
9	IRF1	chr8:131355211-131356124	K562	blood:	n/a	n/a

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	chr8:131341482..131343785-chr8:131354519..131356819,2	K562	blood:

Variant related genes	Relation type
ASAP1	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10086454	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10087626	0.81[ASN][1000 genomes]
rs1008819	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10090106	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs10090231	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs10090767	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs10099549	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs10099586	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10103132	0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10111650	0.85[ASN][1000 genomes]
rs10956520	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10956522	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10956523	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs11992217	0.85[ASN][1000 genomes]
rs11992932	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs11992957	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs11993714	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs11993741	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs11997462	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs12546206	0.95[YRI][hapmap]
rs12678030	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12678062	0.82[EUR][1000 genomes]
rs12678808	0.83[ASN][1000 genomes]
rs12680178	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12680697	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13249894	0.82[EUR][1000 genomes]
rs13255178	0.91[JPT][hapmap]
rs13260346	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs13275147	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13275883	0.93[ASN][1000 genomes]
rs13276168	0.82[EUR][1000 genomes]
rs1340019	0.82[EUR][1000 genomes]
rs16904260	0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs16904268	0.81[EUR][1000 genomes]
rs17287702	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs1978551	0.95[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2114197	0.80[YRI][hapmap]
rs2791346	0.84[CEU][hapmap]
rs2791349	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28545757	0.85[ASN][1000 genomes]
rs28559741	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28562521	0.81[EUR][1000 genomes]
rs28707621	0.80[EUR][1000 genomes]
rs28716119	0.80[EUR][1000 genomes]
rs2994298	0.85[CEU][hapmap]
rs34003529	0.81[EUR][1000 genomes]
rs34019017	0.81[EUR][1000 genomes]
rs34188408	0.81[ASN][1000 genomes]
rs34542318	0.80[EUR][1000 genomes]
rs34676374	0.81[EUR][1000 genomes]
rs34737610	0.80[EUR][1000 genomes]
rs34987314	0.81[EUR][1000 genomes]
rs35229803	0.81[EUR][1000 genomes]
rs4574884	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4609234	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs66488832	0.83[AFR][1000 genomes]
rs6984815	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs6986119	0.81[EUR][1000 genomes]
rs6986163	0.81[EUR][1000 genomes]
rs6990443	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs7011509	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs7014098	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs7016144	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs7018391	0.95[YRI][hapmap]
rs7812299	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7812469	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7822957	0.80[EUR][1000 genomes]
rs7823146	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7828824	0.82[EUR][1000 genomes]
rs7838650	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7844582	0.90[JPT][hapmap];0.91[ASN][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	chr8:131352200-131356200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr8:131352800-131356800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:131353400-131356200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:131353800-131357800	Weak transcription	Fetal Thymus	thymus
39	chr8:131353800-131367600	Weak transcription	Dnd41	blood
40	chr8:131354000-131358000	Weak transcription	HMEC	breast
41	chr8:131354000-131358600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:131354200-131360000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr8:131354400-131358400	Weak transcription	Thymus	Thymus
44	chr8:131354400-131363400	Enhancers	Fetal Heart	heart
45	chr8:131354400-131368800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:131354400-131368800	Weak transcription	Colonic Mucosa	Colon
47	chr8:131354600-131356400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:131354600-131357400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:131354600-131357800	Weak transcription	NHEK	skin
50	chr8:131354600-131358200	Enhancers	Primary neutrophils fromperipheralblood	blood

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