Variant report

Variant	rs6503896
Chromosome Location	chr17:57193525-57193526
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:57181898..57185943-chr17:57190637..57193896,5	K562	blood:
2	chr17:56735442..56737949-chr17:57193216..57195930,2	MCF-7	breast:
3	chr17:57095356..57201201-chr17:57905452..57953516,1644	MCF-7	breast:
4	chr17:57113105..57201250-chr17:57905452..57952793,1492	MCF-7	breast:
5	chr17:57193455..57195222-chr17:57217534..57219238,2	K562	blood:
6	chr17:57193013..57194536-chr17:57208947..57210650,2	K562	blood:
7	chr17:57191560..57194513-chr17:57208334..57210650,2	K562	blood:
8	chr17:57192158..57194327-chr17:57196141..57198437,2	K562	blood:
9	chr17:57191678..57193912-chr20:52209241..52211339,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171940	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000224738	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000108395	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11654986	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11658694	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11658974	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11868348	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12051896	0.83[AMR][1000 genomes]
rs12051897	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12603238	0.83[EUR][1000 genomes]
rs1871751	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2333410	0.83[EUR][1000 genomes]
rs56360354	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6416932	0.84[EUR][1000 genomes]
rs6416933	0.84[EUR][1000 genomes]
rs6503893	0.84[EUR][1000 genomes]
rs6503894	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7208505	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214098	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7503190	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8067264	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8069033	0.81[EUR][1000 genomes]
rs8072712	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8082544	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8182277	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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
16	nsv482858	chr17:57136446-57288615	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	184 gene(s)	inside rSNPs	diseases
17	nsv908647	chr17:57165097-57290383	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
18	nsv908648	chr17:57165097-57322954	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	179 gene(s)	inside rSNPs	diseases
19	nsv1063542	chr17:57179669-57569673	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong 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 miRNA target site	172 gene(s)	inside rSNPs	diseases
20	nsv543397	chr17:57179669-57569673	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
21	nsv1062959	chr17:57179669-57680772	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
22	esv1792828	chr17:57185807-57219391	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
23	nsv1060807	chr17:57189467-57344129	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	114 gene(s)	inside rSNPs	diseases
24	esv2761969	chr17:57192821-57211602	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6503896	TRIM37	cis	Muscle Skeletal	GTEx
rs6503896	FAM33A	Cis_1M	lymphoblastoid	RTeQTL
rs6503896	TRIM37	cis	Adipose Subcutaneous	GTEx
rs6503896	RAD51C	Cis_1M	lymphoblastoid	RTeQTL
rs6503896	TRIM37	cis	Whole Blood	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:57184800-57203200	Weak transcription	Gastric	stomach
2	chr17:57184800-57209000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr17:57184800-57231000	Weak transcription	Aorta	Aorta
4	chr17:57185000-57194800	Weak transcription	HSMM	muscle
5	chr17:57185000-57196000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr17:57185000-57198000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:57185000-57198200	Weak transcription	Spleen	Spleen
8	chr17:57185000-57199600	Weak transcription	Esophagus	oesophagus
9	chr17:57185000-57200600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr17:57185000-57203800	Weak transcription	Stomach Mucosa	stomach
11	chr17:57185000-57204600	Weak transcription	Ovary	ovary
12	chr17:57185000-57205000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr17:57185000-57205600	Weak transcription	HSMMtube	muscle
14	chr17:57185000-57206800	Weak transcription	Pancreas	Pancrea
15	chr17:57185000-57211200	Weak transcription	Right Ventricle	heart
16	chr17:57185000-57212000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:57185000-57218800	Weak transcription	Fetal Intestine Large	intestine
18	chr17:57185000-57221600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr17:57185000-57231000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr17:57185000-57231200	Weak transcription	Lung	lung
21	chr17:57185200-57194600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr17:57185200-57195000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr17:57185200-57195000	Weak transcription	NHDF-Ad	bronchial
24	chr17:57185200-57196000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr17:57185200-57196000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr17:57185200-57196400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr17:57185200-57197600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr17:57185200-57200000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr17:57185200-57200400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr17:57185200-57204200	Weak transcription	Primary B cells from cord blood	blood
31	chr17:57185200-57206400	Weak transcription	Liver	Liver
32	chr17:57185200-57207000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr17:57185200-57207200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr17:57185200-57208200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr17:57185200-57208600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr17:57185200-57212800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr17:57185200-57223000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr17:57185200-57226200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr17:57185200-57228400	Weak transcription	Fetal Heart	heart
40	chr17:57185600-57203600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:57185600-57208600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr17:57185600-57227800	Weak transcription	Fetal Brain Male	brain
43	chr17:57185800-57207600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr17:57186000-57203600	Weak transcription	Adipose Nuclei	Adipose
45	chr17:57186000-57205800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr17:57186000-57206200	Weak transcription	Brain Angular Gyrus	brain
47	chr17:57186000-57206200	Weak transcription	Brain Hippocampus Middle	brain
48	chr17:57186000-57207200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr17:57186000-57231200	Weak transcription	Colon Smooth Muscle	Colon
50	chr17:57186200-57194800	Weak transcription	GM12878-XiMat	blood

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