Variant report

Variant	rs11658974
Chromosome Location	chr17:57205847-57205848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11654986	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11658694	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11868348	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12051897	0.83[EUR][1000 genomes]
rs1871751	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56360354	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6503894	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6503896	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7208505	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7214098	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7503190	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8067264	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8072712	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8082544	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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
25	nsv1064115	chr17:57199370-57369270	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11658974	RAD51C	Cis_1M	lymphoblastoid	RTeQTL
rs11658974	FAM33A	Cis_1M	lymphoblastoid	RTeQTL
rs11658974	TRIM37	cis	Adipose Subcutaneous	GTEx
rs11658974	TRIM37	cis	Whole Blood	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:57184800-57209000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr17:57184800-57231000	Weak transcription	Aorta	Aorta
3	chr17:57185000-57206800	Weak transcription	Pancreas	Pancrea
4	chr17:57185000-57211200	Weak transcription	Right Ventricle	heart
5	chr17:57185000-57212000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:57185000-57218800	Weak transcription	Fetal Intestine Large	intestine
7	chr17:57185000-57221600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:57185000-57231000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr17:57185000-57231200	Weak transcription	Lung	lung
10	chr17:57185200-57206400	Weak transcription	Liver	Liver
11	chr17:57185200-57207000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr17:57185200-57207200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr17:57185200-57208200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr17:57185200-57208600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr17:57185200-57212800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr17:57185200-57223000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr17:57185200-57226200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr17:57185200-57228400	Weak transcription	Fetal Heart	heart
19	chr17:57185600-57208600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr17:57185600-57227800	Weak transcription	Fetal Brain Male	brain
21	chr17:57185800-57207600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr17:57186000-57206200	Weak transcription	Brain Angular Gyrus	brain
23	chr17:57186000-57206200	Weak transcription	Brain Hippocampus Middle	brain
24	chr17:57186000-57207200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr17:57186000-57231200	Weak transcription	Colon Smooth Muscle	Colon
26	chr17:57186600-57208200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr17:57189200-57208400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr17:57189200-57230400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr17:57191000-57206400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr17:57191200-57208600	Strong transcription	Fetal Thymus	thymus
31	chr17:57192000-57208800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr17:57192200-57207000	Strong transcription	Dnd41	blood
33	chr17:57192200-57212000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr17:57192400-57206200	Weak transcription	Primary T cells from cord blood	blood
35	chr17:57192400-57208400	Weak transcription	Brain Substantia Nigra	brain
36	chr17:57192400-57229600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr17:57193200-57215800	Weak transcription	NHEK	skin
38	chr17:57193200-57219800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr17:57193600-57223200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr17:57194400-57231200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr17:57195600-57230400	Weak transcription	Fetal Intestine Small	intestine
42	chr17:57196400-57206200	Weak transcription	Fetal Kidney	kidney
43	chr17:57196600-57226000	Weak transcription	HUVEC	blood vessel
44	chr17:57196600-57226600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr17:57196800-57209400	Weak transcription	NH-A	brain
46	chr17:57196800-57210000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr17:57196800-57226600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr17:57197600-57228400	Weak transcription	Fetal Brain Female	brain
49	chr17:57198000-57206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr17:57198000-57231000	Weak transcription	Primary B cells from peripheral blood	blood

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