Variant report

Variant	rs8069033
Chromosome Location	chr17:57131581-57131582
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:57130117..57131990-chr17:58154789..58157031,2	MCF-7	breast:
2	chr17:56708897..56710649-chr17:57129538..57132507,2	MCF-7	breast:
3	chr17:57131220..57133146-chr17:57135874..57137425,2	K562	blood:
4	chr17:57130530..57133509-chr17:58676367..58679202,2	MCF-7	breast:
5	chr17:57095356..57201201-chr17:57905452..57953516,1644	MCF-7	breast:
6	chr17:57113105..57201250-chr17:57905452..57952793,1492	MCF-7	breast:

Variant related genes	Relation type
ENSG00000062716	Chromatin interaction
ENSG00000267416	Chromatin interaction
ENSG00000068097	Chromatin interaction
ENSG00000170836	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000263558	Chromatin interaction
ENSG00000201524	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10853008	0.84[CEU][hapmap]
rs11079368	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11654986	0.88[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs11656413	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11658694	0.82[EUR][1000 genomes]
rs11868348	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12452313	0.88[CEU][hapmap];0.84[CHB][hapmap]
rs12603238	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12936058	0.96[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs12944948	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]
rs12947785	0.96[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12948039	0.81[ASN][1000 genomes]
rs12948746	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1588322	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs1871751	0.82[EUR][1000 genomes]
rs1967415	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2055779	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs2158966	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2333410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3826353	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4076229	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap]
rs4132925	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]
rs4372750	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs4398153	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]
rs4500802	0.84[EUR][1000 genomes]
rs4598970	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4636974	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap]
rs4932693	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56297715	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56360354	0.82[EUR][1000 genomes]
rs57869245	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs58092632	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6416932	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6416933	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6503887	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap]
rs6503889	0.83[EUR][1000 genomes]
rs6503890	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6503893	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6503894	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6503896	0.81[EUR][1000 genomes]
rs7207693	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs7208505	0.88[CEU][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs7213269	0.86[YRI][hapmap]
rs7214098	0.88[CEU][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs7214335	0.91[CEU][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7214892	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7215808	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap]
rs7216680	0.80[EUR][1000 genomes]
rs7217845	0.86[YRI][hapmap]
rs7218105	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72628394	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7503190	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8067264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8071280	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs8072182	0.86[YRI][hapmap]
rs8072712	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8076121	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8081297	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8081967	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8082544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8182277	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9303403	0.86[YRI][hapmap]
rs9892062	0.91[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap]
rs9892425	0.87[YRI][hapmap]
rs9892795	0.84[EUR][1000 genomes]
rs9894274	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap]
rs9898916	0.91[CEU][hapmap];0.84[CHB][hapmap];0.80[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9901181	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap]
rs9902994	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap]
rs9911583	0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv1066467	chr17:57117682-57338731	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats 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	200 gene(s)	inside rSNPs	diseases
13	nsv1057209	chr17:57117682-57742240	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
14	nsv543396	chr17:57117682-57742240	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
15	nsv1066788	chr17:57126446-57344129	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	193 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs8069033	TRIM37	cis	multi-tissue	Pritchard
rs8069033	FAM33A	Cis_1M	lymphoblastoid	RTeQTL
rs8069033	TRIM37	cis	Whole Blood	GTEx
rs8069033	RAD51C	Cis_1M	lymphoblastoid	RTeQTL
rs8069033	TRIM37	cis	Adipose Subcutaneous	GTEx
rs8069033	TRIM37	cis	Muscle Skeletal	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:57055800-57153600	Weak transcription	Aorta	Aorta
2	chr17:57066000-57151400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:57073200-57143800	Weak transcription	Fetal Brain Male	brain
4	chr17:57079800-57167000	Weak transcription	Small Intestine	intestine
5	chr17:57085600-57134600	Weak transcription	Pancreas	Pancrea
6	chr17:57104200-57159600	Weak transcription	Psoas Muscle	Psoas
7	chr17:57105200-57139600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr17:57106200-57170400	Weak transcription	NHLF	lung
9	chr17:57112400-57143800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:57112600-57137000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr17:57112800-57158800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr17:57113000-57134600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr17:57113000-57158000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr17:57113400-57142600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr17:57114800-57141800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr17:57115000-57142400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr17:57115000-57159000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr17:57115200-57134000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr17:57115200-57134400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr17:57115400-57142800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr17:57118000-57134200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr17:57118000-57135600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:57121000-57147000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr17:57121200-57135800	Weak transcription	NHEK	skin
25	chr17:57121200-57156800	Weak transcription	Brain Angular Gyrus	brain
26	chr17:57121400-57183400	Weak transcription	Gastric	stomach
27	chr17:57121600-57166200	Weak transcription	Esophagus	oesophagus
28	chr17:57121800-57134800	Weak transcription	Right Ventricle	heart
29	chr17:57121800-57136600	Weak transcription	Spleen	Spleen
30	chr17:57121800-57166400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr17:57121800-57181800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr17:57122000-57156000	Weak transcription	Colonic Mucosa	Colon
33	chr17:57122400-57137200	Weak transcription	Brain Hippocampus Middle	brain
34	chr17:57123400-57132000	Weak transcription	Fetal Intestine Small	intestine
35	chr17:57123800-57133400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr17:57123800-57136000	Weak transcription	Ovary	ovary
37	chr17:57123800-57145200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr17:57124800-57167600	Strong transcription	Dnd41	blood
39	chr17:57125800-57148400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr17:57126000-57147000	Weak transcription	Brain Substantia Nigra	brain
41	chr17:57126200-57133800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr17:57126800-57133000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr17:57126800-57134200	Weak transcription	NHDF-Ad	bronchial
44	chr17:57126800-57135800	Weak transcription	HSMMtube	muscle
45	chr17:57126800-57139600	Weak transcription	HSMM	muscle
46	chr17:57126800-57143200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr17:57127000-57166400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr17:57127000-57181800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr17:57127200-57135000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr17:57127200-57137200	Weak transcription	HMEC	breast

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