Variant report

Variant	rs61811617
Chromosome Location	chr1:180445085-180445086
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180155609..180157306-chr1:180443324..180446117,2	MCF-7	breast:
2	chr1:180443855..180445466-chr1:180459233..180461391,2	K562	blood:
3	chr1:180191227..180195621-chr1:180443394..180446710,3	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10157891	1.00[AFR][1000 genomes]
rs10733004	1.00[AFR][1000 genomes]
rs10737343	1.00[AFR][1000 genomes]
rs10737344	1.00[AFR][1000 genomes]
rs10737345	1.00[AFR][1000 genomes]
rs10753213	1.00[AFR][1000 genomes]
rs10798763	1.00[AFR][1000 genomes]
rs10798764	1.00[AFR][1000 genomes]
rs10913972	1.00[AFR][1000 genomes]
rs10914011	1.00[AFR][1000 genomes]
rs1094597	1.00[AFR][1000 genomes]
rs1094598	1.00[AFR][1000 genomes]
rs12144149	1.00[AFR][1000 genomes]
rs12565152	1.00[AFR][1000 genomes]
rs1339722	1.00[AFR][1000 genomes]
rs1418100	1.00[AFR][1000 genomes]
rs1418103	1.00[AFR][1000 genomes]
rs1556935	1.00[AFR][1000 genomes]
rs1591898	1.00[AFR][1000 genomes]
rs2153327	1.00[AFR][1000 genomes]
rs2331742	1.00[AFR][1000 genomes]
rs2764432	1.00[AFR][1000 genomes]
rs2764434	1.00[AFR][1000 genomes]
rs2764437	1.00[AFR][1000 genomes]
rs2764449	1.00[AFR][1000 genomes]
rs2764467	1.00[AFR][1000 genomes]
rs2794963	1.00[AFR][1000 genomes]
rs2794964	1.00[AFR][1000 genomes]
rs2794969	1.00[AFR][1000 genomes]
rs2794970	1.00[AFR][1000 genomes]
rs2794971	1.00[AFR][1000 genomes]
rs2794973	1.00[AFR][1000 genomes]
rs4304539	1.00[AFR][1000 genomes]
rs4532796	1.00[AFR][1000 genomes]
rs4540612	1.00[AFR][1000 genomes]
rs4652510	1.00[AFR][1000 genomes]
rs61811598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61811614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61811627	1.00[AFR][1000 genomes]
rs61811628	1.00[AFR][1000 genomes]
rs6425624	1.00[AFR][1000 genomes]
rs6425630	1.00[AFR][1000 genomes]
rs6665615	1.00[AFR][1000 genomes]
rs6669304	1.00[AFR][1000 genomes]
rs6677367	1.00[AFR][1000 genomes]
rs6680754	1.00[AFR][1000 genomes]
rs6683484	1.00[AFR][1000 genomes]
rs6691333	1.00[AFR][1000 genomes]
rs7526743	1.00[AFR][1000 genomes]
rs7546030	1.00[AFR][1000 genomes]
rs7548707	1.00[AFR][1000 genomes]
rs822703	1.00[AFR][1000 genomes]
rs946634	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv1013716	chr1:180287338-180477072	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
4	nsv535221	chr1:180287338-180477072	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
5	esv2762200	chr1:180300936-180493841	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
6	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
7	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180392600-180446200	Weak transcription	K562	blood
2	chr1:180403400-180448000	Weak transcription	HMEC	breast
3	chr1:180404400-180469000	Weak transcription	Pancreas	Pancrea
4	chr1:180421000-180448000	Weak transcription	HSMM	muscle
5	chr1:180421200-180451600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:180425800-180457600	Weak transcription	Aorta	Aorta
7	chr1:180427400-180448200	Weak transcription	Osteobl	bone
8	chr1:180428000-180470000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:180429600-180455000	Weak transcription	Left Ventricle	heart
10	chr1:180430200-180454600	Weak transcription	Thymus	Thymus
11	chr1:180431200-180470200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:180431400-180447800	Weak transcription	Fetal Stomach	stomach
13	chr1:180431400-180448200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:180432000-180451400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:180432000-180470600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:180432200-180448000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:180433600-180454200	Weak transcription	Adipose Nuclei	Adipose
18	chr1:180433800-180455000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:180434000-180448000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:180434000-180465600	Weak transcription	Fetal Brain Male	brain
21	chr1:180434200-180445200	Weak transcription	Dnd41	blood
22	chr1:180434200-180470200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:180434400-180451400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:180434600-180448000	Weak transcription	Primary B cells from cord blood	blood
25	chr1:180434600-180448000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:180434600-180448000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:180434600-180448200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:180434600-180448200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:180434600-180448400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:180434800-180451400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr1:180434800-180458800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:180435000-180448000	Weak transcription	Fetal Lung	lung
33	chr1:180435000-180456400	Weak transcription	Fetal Kidney	kidney
34	chr1:180435200-180448000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:180435200-180454400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr1:180435200-180469000	Weak transcription	Brain Angular Gyrus	brain
37	chr1:180435400-180448000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:180435400-180448200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:180435600-180448600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:180436600-180450400	Weak transcription	NHDF-Ad	bronchial
41	chr1:180437600-180445800	Weak transcription	A549	lung
42	chr1:180437600-180448800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:180437600-180451400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:180437600-180454600	Weak transcription	Gastric	stomach
45	chr1:180437600-180455200	Weak transcription	Ovary	ovary
46	chr1:180437600-180470400	Weak transcription	Right Ventricle	heart
47	chr1:180437600-180470600	Weak transcription	Spleen	Spleen
48	chr1:180437600-180471000	Weak transcription	Lung	lung
49	chr1:180437800-180454400	Weak transcription	Fetal Intestine Large	intestine
50	chr1:180438200-180448000	Weak transcription	Fetal Muscle Leg	muscle

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