Variant report

Variant	rs73305952
Chromosome Location	chr17:18011975-18011976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:18011044-18012845	U87	brain:	n/a	n/a
2	POLR2A	chr17:18011147-18012854	GM12892	blood:	n/a	n/a
3	POLR2A	chr17:18011962-18012836	A549	lung:	n/a	n/a
4	POLR2A	chr17:18011280-18013634	K562	blood:	n/a	n/a
5	POLR2A	chr17:18011258-18013406	K562	blood:	n/a	n/a
6	POLR2A	chr17:18011082-18013002	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr17:18011048-18013298	GM12892	blood:	n/a	n/a
8	POLR2A	chr17:18011828-18012691	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr17:18011952-18012819	K562	blood:	n/a	n/a
10	POLR2A	chr17:18010998-18012596	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr17:18010674-18012518	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr17:18011352-18013197	MCF-7	breast:	n/a	n/a
13	POLR2A	chr17:18010488-18014366	K562	blood:	n/a	n/a
14	POLR2A	chr17:18010725-18012712	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr17:18010735-18015500	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr17:18011242-18012960	HepG2	liver:	n/a	n/a
17	POLR2A	chr17:18010472-18015836	A549	lung:	n/a	n/a
18	BCL3	chr17:18011863-18012916	A549	lung:	n/a	n/a
19	POLR2A	chr17:18010593-18014325	HepG2	liver:	n/a	n/a
20	POLR2A	chr17:18011923-18012575	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr17:18011929-18012538	HCT-116	colon:	n/a	n/a
22	POLR2A	chr17:18011930-18013139	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr17:18011690-18012264	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr17:18011503-18012613	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr17:18011944-18013125	GM12878	blood:	n/a	n/a
26	POLR2A	chr17:18011942-18013206	GM12891	blood:	n/a	n/a
27	POLR2A	chr17:18010983-18014219	PFSK-1	brain:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18004673..18008844-chr17:18009305..18012045,5	K562	blood:
2	chr17:18007007..18008585-chr17:18011589..18013521,2	MCF-7	breast:
3	chr17:18006973..18009716-chr17:18011197..18014211,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATPAF2-2	chr17:18010648-18013777	NONHSAT146149
2	lnc-ATPAF2-2	chr17:18009717-18014392	NONHSAT146147

No data

Variant related genes	Relation type
MYO15A	TF binding region
ENSG00000108591	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs16960767	1.00[AMR][1000 genomes]
rs16960818	1.00[AMR][1000 genomes]
rs56054716	1.00[AMR][1000 genomes]
rs56153053	1.00[AMR][1000 genomes]
rs56160247	1.00[AMR][1000 genomes]
rs56232485	1.00[AMR][1000 genomes]
rs56928492	1.00[AMR][1000 genomes]
rs57082481	1.00[AMR][1000 genomes]
rs57277459	1.00[AMR][1000 genomes]
rs57791826	1.00[AMR][1000 genomes]
rs58219643	1.00[AMR][1000 genomes]
rs58376085	1.00[AMR][1000 genomes]
rs58676524	1.00[AMR][1000 genomes]
rs58936409	1.00[AMR][1000 genomes]
rs61050785	1.00[AMR][1000 genomes]
rs61060916	1.00[AMR][1000 genomes]
rs61188141	1.00[AMR][1000 genomes]
rs61256737	1.00[AMR][1000 genomes]
rs7218054	1.00[AMR][1000 genomes]
rs7218246	1.00[AMR][1000 genomes]
rs7218594	1.00[AMR][1000 genomes]
rs7221934	1.00[AMR][1000 genomes]
rs7224621	1.00[AMR][1000 genomes]
rs73299861	1.00[AMR][1000 genomes]
rs73299873	1.00[AMR][1000 genomes]
rs73299892	1.00[AMR][1000 genomes]
rs73301827	1.00[AMR][1000 genomes]
rs73301859	1.00[AMR][1000 genomes]
rs73301894	1.00[AMR][1000 genomes]
rs73303812	1.00[AMR][1000 genomes]
rs73303813	1.00[AMR][1000 genomes]
rs73303833	1.00[AMR][1000 genomes]
rs73303854	1.00[AMR][1000 genomes]
rs73303856	1.00[AMR][1000 genomes]
rs73303857	1.00[AMR][1000 genomes]
rs73979211	1.00[AMR][1000 genomes]
rs73979217	1.00[AMR][1000 genomes]
rs73979243	1.00[AMR][1000 genomes]
rs8066528	1.00[AMR][1000 genomes]
rs8066865	1.00[AMR][1000 genomes]
rs8078368	1.00[AMR][1000 genomes]
rs8078811	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv960429	chr17:17951047-18027679	Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers 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 target site	14 gene(s)	inside rSNPs	diseases
5	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers 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	68 gene(s)	inside rSNPs	diseases
8	nsv907769	chr17:18000321-18064195	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv457697	chr17:18003845-18046290	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv574527	chr17:18003845-18046290	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv907770	chr17:18003845-18098018	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17992200-18014000	Weak transcription	Right Atrium	heart
2	chr17:17993000-18012000	Strong transcription	Fetal Muscle Trunk	muscle
3	chr17:17994200-18012000	Strong transcription	Fetal Intestine Small	intestine
4	chr17:17994600-18012800	Strong transcription	Thymus	Thymus
5	chr17:18002400-18019600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr17:18003200-18021000	Weak transcription	Psoas Muscle	Psoas
7	chr17:18003400-18012400	Weak transcription	Hela-S3	cervix
8	chr17:18003800-18015200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr17:18004000-18012200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr17:18004800-18015400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr17:18005400-18012800	Weak transcription	Osteobl	bone
12	chr17:18005400-18013600	Weak transcription	HSMM	muscle
13	chr17:18005400-18017000	Weak transcription	HepG2	liver
14	chr17:18005600-18012200	Weak transcription	NH-A	brain
15	chr17:18005600-18015000	Weak transcription	HMEC	breast
16	chr17:18005800-18014800	Weak transcription	HSMMtube	muscle
17	chr17:18006800-18012800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr17:18007800-18012400	Weak transcription	Left Ventricle	heart
19	chr17:18008400-18012400	Weak transcription	Fetal Lung	lung
20	chr17:18009000-18015000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:18009600-18012400	Weak transcription	Colon Smooth Muscle	Colon
22	chr17:18010000-18012200	Weak transcription	Brain Substantia Nigra	brain
23	chr17:18010200-18013000	Enhancers	Fetal Brain Male	brain
24	chr17:18010200-18014200	Genic enhancers	Liver	Liver
25	chr17:18010200-18015000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr17:18010400-18012000	Weak transcription	Primary B cells from cord blood	blood
27	chr17:18010400-18012000	Weak transcription	Brain Angular Gyrus	brain
28	chr17:18010400-18012200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr17:18010400-18013000	Weak transcription	NHEK	skin
30	chr17:18010600-18012200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr17:18010600-18015400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr17:18010600-18015800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr17:18010600-18030400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr17:18010800-18012400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr17:18010800-18012400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr17:18010800-18012400	Weak transcription	Aorta	Aorta
37	chr17:18010800-18012600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr17:18010800-18012600	Weak transcription	Dnd41	blood
39	chr17:18010800-18013000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr17:18010800-18013000	Weak transcription	Pancreas	Pancrea
41	chr17:18010800-18014000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr17:18010800-18015400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr17:18010800-18020800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr17:18011000-18012600	Weak transcription	Primary T cells from cord blood	blood
45	chr17:18011000-18012600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr17:18011000-18012600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr17:18011000-18012600	Weak transcription	Esophagus	oesophagus
48	chr17:18011000-18012600	Weak transcription	Ovary	ovary
49	chr17:18011000-18012600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr17:18011000-18012600	Weak transcription	Rectal Smooth Muscle	rectum

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