Variant report

Variant	rs17331590
Chromosome Location	chr5:68515493-68515494
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:68471354..68475028-chr5:68512445..68515750,4	K562	blood:
2	chr5:68514007..68516074-chr5:68664468..68668135,3	K562	blood:
3	chr5:68512355..68516868-chr5:68528060..68533660,10	K562	blood:
4	chr5:68514651..68516753-chr5:68670108..68672785,2	K562	blood:
5	chr5:68514182..68515689-chr5:68624413..68626099,2	MCF-7	breast:
6	chr5:68512355..68517480-chr5:68528060..68532261,10	K562	blood:
7	chr5:68514852..68516852-chr5:68553089..68555836,2	K562	blood:
8	chr5:68483023..68488056-chr5:68511952..68517380,10	K562	blood:
9	chr5:68388860..68391967-chr5:68513712..68515652,4	K562	blood:
10	chr5:68513382..68515686-chr5:68665012..68667135,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153044	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000134057	Chromatin interaction
ENSG00000134058	Chromatin interaction
ENSG00000238334	Chromatin interaction
ENSG00000145740	Chromatin interaction
ENSG00000085231	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10454825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10515100	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10940208	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1128761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12188874	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12189395	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16875380	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17271735	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17271763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17271912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2069432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28616082	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3846484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3966728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41392244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56072942	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56101109	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56667192	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57047253	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58176819	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58725071	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59497209	0.83[ASN][1000 genomes]
rs61626775	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61699334	0.83[ASN][1000 genomes]
rs61743885	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66525615	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66595384	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67275234	0.83[ASN][1000 genomes]
rs67548500	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67693452	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67821207	0.83[ASN][1000 genomes]
rs67980996	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6867050	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6890817	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767813	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767816	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767820	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767822	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767833	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72767837	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767849	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767855	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767860	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767861	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767863	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767864	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767865	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7709090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7714908	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7734513	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7736312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3378789	chr5:68438275-68540725	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68514200-68530200	Weak transcription	Small Intestine	intestine
2	chr5:68514200-68530200	Weak transcription	Spleen	Spleen
3	chr5:68514400-68515600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:68514400-68515600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr5:68514400-68515600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr5:68514400-68515600	Enhancers	Brain Substantia Nigra	brain
7	chr5:68514400-68515800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:68514400-68515800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr5:68514400-68520400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:68514400-68520400	Weak transcription	Lung	lung
11	chr5:68514400-68521800	Weak transcription	Placenta	Placenta
12	chr5:68514400-68523000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr5:68514400-68523600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:68514400-68530200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:68514400-68530200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:68514400-68530200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:68514400-68530200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:68514400-68530200	Weak transcription	Aorta	Aorta
19	chr5:68514400-68530200	Weak transcription	Esophagus	oesophagus
20	chr5:68514400-68530200	Weak transcription	Gastric	stomach
21	chr5:68514400-68530200	Weak transcription	Pancreas	Pancrea
22	chr5:68514400-68530200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr5:68514600-68515600	Flanking Active TSS	GM12878-XiMat	blood
24	chr5:68514600-68516000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr5:68514600-68520000	Weak transcription	Fetal Stomach	stomach
26	chr5:68514600-68520400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:68514600-68520400	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:68514600-68520400	Weak transcription	Thymus	Thymus
29	chr5:68514600-68522200	Weak transcription	Fetal Thymus	thymus
30	chr5:68514600-68523000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:68514600-68523400	Weak transcription	HSMM	muscle
32	chr5:68514600-68523600	Weak transcription	Ovary	ovary
33	chr5:68514600-68524000	Weak transcription	HSMMtube	muscle
34	chr5:68514800-68515600	Flanking Active TSS	K562	blood
35	chr5:68514800-68515800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr5:68514800-68516200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:68514800-68521600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:68514800-68521600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr5:68514800-68521600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr5:68514800-68523000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr5:68514800-68523400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr5:68514800-68523400	Weak transcription	Osteobl	bone
43	chr5:68514800-68523600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:68514800-68524000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr5:68514800-68524000	Weak transcription	NH-A	brain
46	chr5:68514800-68524200	Weak transcription	HUVEC	blood vessel
47	chr5:68514800-68530000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr5:68515000-68515600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr5:68515000-68516000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:68515000-68517200	Weak transcription	Primary hematopoietic stem cells	blood

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