Variant report

Variant	rs11868348
Chromosome Location	chr17:57179238-57179239
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:57177036..57179560-chr17:59487518..59489580,2	MCF-7	breast:
2	chr17:56755178..56757038-chr17:57179208..57181327,3	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	chr17:57178024..57179987-chr19:12792000..12793907,2	MCF-7	breast:
6	chr17:56735590..56737867-chr17:57177923..57179554,2	MCF-7	breast:
7	chr12:56117825..56119634-chr17:57178406..57181247,2	MCF-7	breast:
8	chr17:57175266..57180903-chr17:57181177..57185612,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224738	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000095059	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000108395	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11079368	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11654986	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11656413	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11658694	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11658974	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12051897	0.82[EUR][1000 genomes]
rs12603238	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12948746	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1871751	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1967415	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2158966	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2333410	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3826353	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4598970	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4932693	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56297715	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56360354	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57869245	0.84[ASN][1000 genomes]
rs58092632	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6416932	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6416933	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6503890	0.81[EUR][1000 genomes]
rs6503893	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6503894	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6503896	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7208505	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7214098	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7214335	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7214892	0.83[EUR][1000 genomes]
rs72628394	0.86[ASN][1000 genomes]
rs7503190	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8067264	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8069033	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8072712	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8081297	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8081967	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8082544	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8182277	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11868348	RAD51C	Cis_1M	lymphoblastoid	RTeQTL
rs11868348	TRIM37	cis	Adipose Subcutaneous	GTEx
rs11868348	TRIM37	cis	Muscle Skeletal	GTEx
rs11868348	TRIM37	cis	Whole Blood	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:57121400-57183400	Weak transcription	Gastric	stomach
2	chr17:57121800-57181800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr17:57127000-57181800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr17:57135400-57183400	Weak transcription	Pancreas	Pancrea
5	chr17:57137600-57183000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr17:57151200-57182600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr17:57157800-57181400	Weak transcription	Brain Hippocampus Middle	brain
8	chr17:57165600-57181600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr17:57165800-57181800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:57167400-57181600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr17:57167400-57181800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr17:57167400-57182400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr17:57167400-57183000	Weak transcription	Brain Substantia Nigra	brain
14	chr17:57167400-57183000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr17:57167400-57183400	Weak transcription	Spleen	Spleen
16	chr17:57167600-57181600	Weak transcription	Fetal Brain Female	brain
17	chr17:57167600-57183000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr17:57167800-57183000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr17:57168200-57181800	Weak transcription	Thymus	Thymus
20	chr17:57168200-57182600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr17:57168200-57183000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr17:57171000-57181600	Weak transcription	Brain Angular Gyrus	brain
23	chr17:57171000-57182600	Weak transcription	Fetal Brain Male	brain
24	chr17:57171200-57182600	Weak transcription	Fetal Kidney	kidney
25	chr17:57171200-57183400	Weak transcription	Small Intestine	intestine
26	chr17:57171400-57182000	Weak transcription	Colon Smooth Muscle	Colon
27	chr17:57171400-57183000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr17:57171400-57183200	Weak transcription	Psoas Muscle	Psoas
29	chr17:57171600-57182600	Weak transcription	Fetal Lung	lung
30	chr17:57171600-57182800	Weak transcription	Adipose Nuclei	Adipose
31	chr17:57171600-57183200	Weak transcription	Colonic Mucosa	Colon
32	chr17:57171800-57179400	Strong transcription	Dnd41	blood
33	chr17:57171800-57183000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr17:57172200-57182800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr17:57172400-57182400	Weak transcription	NHEK	skin
36	chr17:57172400-57183200	Weak transcription	Ovary	ovary
37	chr17:57172600-57181000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr17:57172600-57181800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr17:57172600-57183400	Weak transcription	Left Ventricle	heart
40	chr17:57172600-57183400	Weak transcription	Lung	lung
41	chr17:57172800-57179400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr17:57172800-57183200	Weak transcription	Placenta	Placenta
43	chr17:57173000-57181200	Weak transcription	NHLF	lung
44	chr17:57173000-57181400	Weak transcription	Hela-S3	cervix
45	chr17:57173000-57182600	Weak transcription	NH-A	brain
46	chr17:57173200-57183000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr17:57173200-57183000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr17:57173400-57181400	Weak transcription	HUVEC	blood vessel
49	chr17:57173400-57181800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr17:57175000-57180600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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