Variant report

Variant	rs1967415
Chromosome Location	chr17:57113124-57113125
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:56707670..56710643-chr17:57112179..57113687,2	MCF-7	breast:
2	chr17:57095356..57201201-chr17:57905452..57953516,1644	MCF-7	breast:
3	chr17:57113105..57201250-chr17:57905452..57952793,1492	MCF-7	breast:
4	chr17:56708905..56711058-chr17:57110640..57113527,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212195	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000201524	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11079365	0.82[EUR][1000 genomes]
rs11079368	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11656413	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11658694	0.80[EUR][1000 genomes]
rs11868348	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12232477	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12452313	0.81[AMR][1000 genomes]
rs12603238	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12936058	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12938821	0.83[EUR][1000 genomes]
rs12940681	0.82[EUR][1000 genomes]
rs12944948	0.83[EUR][1000 genomes]
rs12947785	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12948039	0.82[ASN][1000 genomes]
rs12948746	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12952832	0.80[EUR][1000 genomes]
rs1588322	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1871751	0.80[EUR][1000 genomes]
rs2055779	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2158966	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2333410	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3826353	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4076229	0.82[EUR][1000 genomes]
rs4132925	0.82[EUR][1000 genomes]
rs4372750	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4398153	0.81[EUR][1000 genomes]
rs4500802	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4597376	0.81[EUR][1000 genomes]
rs4598970	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4636974	0.83[EUR][1000 genomes]
rs4932693	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56297715	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56360354	0.80[EUR][1000 genomes]
rs57869245	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58092632	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6416932	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6416933	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6503883	0.82[EUR][1000 genomes]
rs6503887	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6503889	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6503890	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6503893	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6503894	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7207693	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7208505	0.80[EUR][1000 genomes]
rs7209253	0.80[EUR][1000 genomes]
rs7214098	0.80[EUR][1000 genomes]
rs7214335	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7214892	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7215808	0.80[EUR][1000 genomes]
rs7216680	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7218105	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7223955	0.82[EUR][1000 genomes]
rs72628394	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7503190	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8067264	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8069033	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8071280	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8072712	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8076121	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8079774	0.80[EUR][1000 genomes]
rs8081297	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8081967	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8082544	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8182277	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9892062	0.83[EUR][1000 genomes]
rs9892795	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9894274	0.83[EUR][1000 genomes]
rs9898916	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9901181	0.83[EUR][1000 genomes]
rs9902994	0.82[EUR][1000 genomes]
rs9907499	0.82[EUR][1000 genomes]
rs9911578	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908643	chr17:56803028-57249010	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv908644	chr17:56803028-57371432	Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
3	esv3335958	chr17:56849544-57385398	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
4	nsv908645	chr17:56857281-57208752	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	150 gene(s)	inside rSNPs	diseases
5	nsv1065063	chr17:56954121-57346694	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
6	nsv1064384	chr17:57049519-57346694	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
7	nsv908646	chr17:57061238-57255810	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	206 gene(s)	inside rSNPs	diseases
8	nsv833499	chr17:57070693-57288410	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	208 gene(s)	inside rSNPs	diseases
9	nsv1066388	chr17:57082013-57339981	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	209 gene(s)	inside rSNPs	diseases
10	esv2758462	chr17:57082579-57425634	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	213 gene(s)	inside rSNPs	diseases
11	esv2758699	chr17:57082579-57425634	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	213 gene(s)	inside rSNPs	diseases
12	nsv9574	chr17:57109423-57118739	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
13	nsv962452	chr17:57109521-57125839	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
14	nsv828068	chr17:57109775-57118266	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
15	nsv514855	chr17:57110074-57117978	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
16	esv2421884	chr17:57110327-57118121	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1967415	RAD51C	Cis_1M	lymphoblastoid	RTeQTL
rs1967415	TRIM37	cis	Adipose Subcutaneous	GTEx
rs1967415	TRIM37	cis	Muscle Skeletal	GTEx
rs1967415	TRIM37	cis	Whole Blood	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:57055800-57116200	Weak transcription	Gastric	stomach
2	chr17:57055800-57153600	Weak transcription	Aorta	Aorta
3	chr17:57056400-57120800	Weak transcription	Right Ventricle	heart
4	chr17:57058000-57116600	Weak transcription	Brain Germinal Matrix	brain
5	chr17:57058800-57116400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:57060600-57116400	Weak transcription	Esophagus	oesophagus
7	chr17:57063000-57116200	Weak transcription	Spleen	Spleen
8	chr17:57063200-57116400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:57064800-57116200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:57066000-57151400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr17:57070400-57113200	Weak transcription	NHEK	skin
12	chr17:57073200-57143800	Weak transcription	Fetal Brain Male	brain
13	chr17:57074600-57120600	Weak transcription	Colon Smooth Muscle	Colon
14	chr17:57079200-57113200	Weak transcription	Fetal Kidney	kidney
15	chr17:57079200-57116200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr17:57079200-57116200	Weak transcription	Ovary	ovary
17	chr17:57079800-57167000	Weak transcription	Small Intestine	intestine
18	chr17:57082400-57120000	Weak transcription	Brain Angular Gyrus	brain
19	chr17:57085600-57116200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr17:57085600-57134600	Weak transcription	Pancreas	Pancrea
21	chr17:57086400-57120800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr17:57087800-57116200	Weak transcription	Brain Substantia Nigra	brain
23	chr17:57089600-57115600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr17:57089800-57116200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr17:57089800-57116200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr17:57089800-57116200	Weak transcription	Lung	lung
27	chr17:57090800-57117600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr17:57094800-57113400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr17:57094800-57113400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr17:57102200-57120800	Weak transcription	Colonic Mucosa	Colon
31	chr17:57103200-57120600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr17:57104200-57159600	Weak transcription	Psoas Muscle	Psoas
33	chr17:57104400-57114200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr17:57105200-57113600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:57105200-57113800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr17:57105200-57139600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr17:57105400-57113400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr17:57105400-57117400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr17:57105600-57113200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr17:57105600-57113200	Weak transcription	Brain Anterior Caudate	brain
41	chr17:57105600-57113200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr17:57105600-57117600	Weak transcription	K562	blood
43	chr17:57105800-57116200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr17:57105800-57116200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr17:57106000-57113200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr17:57106000-57115400	Weak transcription	Fetal Lung	lung
47	chr17:57106000-57115800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr17:57106000-57116000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr17:57106000-57116200	Weak transcription	Fetal Intestine Large	intestine
50	chr17:57106000-57116200	Weak transcription	Left Ventricle	heart

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