Variant report

Variant	rs7701561
Chromosome Location	chr5:118719900-118719901
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118713895..118716376-chr5:118719102..118721687,2	K562	blood:
2	chr5:118692399..118693980-chr5:118717576..118719923,2	MCF-7	breast:
3	chr5:118717603..118720239-chr5:118724009..118726196,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10041464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10053031	1.00[ASN][1000 genomes]
rs10055743	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[ASN][1000 genomes]
rs10060971	0.81[MEX][hapmap]
rs10064524	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064668	1.00[ASN][1000 genomes]
rs10064783	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[ASN][1000 genomes]
rs10069480	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10519575	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10519576	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11064	0.85[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs11539471	1.00[JPT][hapmap]
rs11746780	1.00[JPT][hapmap]
rs11748477	1.00[JPT][hapmap]
rs11748530	1.00[JPT][hapmap]
rs11957255	1.00[JPT][hapmap]
rs17145194	1.00[JPT][hapmap]
rs17145196	1.00[JPT][hapmap]
rs17145259	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17145372	1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs17145471	1.00[JPT][hapmap]
rs17145473	1.00[JPT][hapmap]
rs17145475	1.00[JPT][hapmap]
rs17145476	1.00[JPT][hapmap]
rs17385942	1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2560718	1.00[JPT][hapmap]
rs3733856	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3797344	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797345	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813305	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3850201	1.00[JPT][hapmap]
rs4895192	1.00[ASN][1000 genomes]
rs4895374	1.00[ASN][1000 genomes]
rs55682871	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs55796175	1.00[ASN][1000 genomes]
rs55933899	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56206018	1.00[ASN][1000 genomes]
rs56303741	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57598751	1.00[ASN][1000 genomes]
rs57722161	1.00[ASN][1000 genomes]
rs59034186	1.00[ASN][1000 genomes]
rs59119324	1.00[ASN][1000 genomes]
rs59406275	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60795377	1.00[ASN][1000 genomes]
rs60832077	1.00[ASN][1000 genomes]
rs61412235	1.00[ASN][1000 genomes]
rs61415411	1.00[ASN][1000 genomes]
rs6595184	1.00[ASN][1000 genomes]
rs66534333	1.00[ASN][1000 genomes]
rs67967956	1.00[ASN][1000 genomes]
rs68024523	1.00[ASN][1000 genomes]
rs6860034	1.00[ASN][1000 genomes]
rs6862941	1.00[ASN][1000 genomes]
rs6869623	1.00[ASN][1000 genomes]
rs6876817	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6882000	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6883394	1.00[JPT][hapmap]
rs6891981	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786113	1.00[ASN][1000 genomes]
rs72786116	1.00[ASN][1000 genomes]
rs72786125	1.00[ASN][1000 genomes]
rs72786136	1.00[ASN][1000 genomes]
rs72786143	1.00[ASN][1000 genomes]
rs72786161	1.00[ASN][1000 genomes]
rs72788123	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72788136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788144	1.00[ASN][1000 genomes]
rs72788145	1.00[ASN][1000 genomes]
rs72788146	1.00[ASN][1000 genomes]
rs72788148	1.00[ASN][1000 genomes]
rs72788162	1.00[ASN][1000 genomes]
rs72788163	1.00[ASN][1000 genomes]
rs72788165	1.00[ASN][1000 genomes]
rs72788177	1.00[ASN][1000 genomes]
rs72788186	1.00[ASN][1000 genomes]
rs73237289	1.00[ASN][1000 genomes]
rs73790852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73790862	1.00[ASN][1000 genomes]
rs73794110	1.00[ASN][1000 genomes]
rs7701688	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7704291	1.00[JPT][hapmap]
rs7704487	1.00[JPT][hapmap]
rs7722172	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723390	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7723933	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725244	1.00[ASN][1000 genomes]
rs7729690	1.00[ASN][1000 genomes]
rs7731552	0.86[AMR][1000 genomes]
rs7734378	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7737934	1.00[JPT][hapmap]
rs9327100	1.00[CEU][hapmap];0.81[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118702800-118720000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:118702800-118720800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:118702800-118722400	Weak transcription	Spleen	Spleen
4	chr5:118702800-118723800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:118702800-118736000	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:118704400-118722800	Weak transcription	HMEC	breast
7	chr5:118704400-118728400	Weak transcription	Hela-S3	cervix
8	chr5:118704600-118723400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:118706400-118720600	Weak transcription	Small Intestine	intestine
10	chr5:118706600-118722400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr5:118707600-118754600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:118709400-118727800	Weak transcription	Dnd41	blood
13	chr5:118709600-118723400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:118711400-118728400	Weak transcription	A549	lung
15	chr5:118711800-118725800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr5:118712200-118724600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr5:118712400-118726400	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr5:118712400-118732600	Genic enhancers	Primary B cells from peripheral blood	blood
19	chr5:118712800-118726200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:118713000-118721200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:118714000-118721000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:118714000-118722000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:118714000-118723400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr5:118714000-118725200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:118714200-118721000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:118714400-118720400	Weak transcription	Fetal Lung	lung
27	chr5:118714400-118722200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr5:118714400-118725200	Weak transcription	Aorta	Aorta
29	chr5:118714400-118729200	Weak transcription	HSMMtube	muscle
30	chr5:118714600-118720200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:118715000-118720400	Genic enhancers	GM12878-XiMat	blood
32	chr5:118715000-118722400	Weak transcription	Osteobl	bone
33	chr5:118715000-118725000	Weak transcription	Fetal Thymus	thymus
34	chr5:118715200-118720600	Weak transcription	NHDF-Ad	bronchial
35	chr5:118715200-118724800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:118715400-118728800	Weak transcription	Placenta	Placenta
37	chr5:118715600-118720000	Weak transcription	Thymus	Thymus
38	chr5:118715800-118724800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr5:118716000-118720800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:118716000-118721000	Weak transcription	Fetal Kidney	kidney
41	chr5:118716200-118720200	Weak transcription	K562	blood
42	chr5:118716200-118720600	Weak transcription	Fetal Stomach	stomach
43	chr5:118716200-118723400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr5:118716200-118724800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:118717200-118722400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:118717200-118731000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:118717400-118720400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr5:118717600-118721400	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr5:118717600-118722600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr5:118717800-118721200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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