Variant report

Variant	rs4985744
Chromosome Location	chr17:17093132-17093133
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:17093084-17093187	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17090881..17093719-chr17:17108293..17110165,2	K562	blood:
2	chr17:17084528..17086994-chr17:17091747..17094642,2	K562	blood:
3	chr17:17092917..17095538-chr17:17100650..17103433,2	MCF-7	breast:
4	chr17:17088597..17090779-chr17:17091806..17094698,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C17orf84-1	chr17:17091982-17095962	ENSG00000259850.1

No data

Variant related genes	Relation type
ENSG00000263624	TF binding region
ENSG00000179598	Chromatin interaction
ENSG00000133030	Chromatin interaction
ENSG00000263624	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1047805	0.95[AMR][1000 genomes]
rs10852843	0.95[AMR][1000 genomes]
rs10852844	0.90[AMR][1000 genomes]
rs10852845	0.95[AMR][1000 genomes]
rs10852846	0.95[AMR][1000 genomes]
rs11078364	0.88[AMR][1000 genomes]
rs11078365	0.92[AMR][1000 genomes]
rs11078370	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11078371	0.90[AMR][1000 genomes]
rs11078372	0.90[AMR][1000 genomes]
rs11078373	0.95[AMR][1000 genomes]
rs11078375	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1110504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1110505	0.95[AMR][1000 genomes]
rs11651460	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11651938	0.95[AMR][1000 genomes]
rs11651988	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11652079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11652674	0.94[EUR][1000 genomes]
rs11652678	0.95[AMR][1000 genomes]
rs11652756	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11652936	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11654247	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11654360	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11654562	0.93[AMR][1000 genomes]
rs11658084	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12450109	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12450213	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12450238	0.92[AMR][1000 genomes]
rs12450467	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12451054	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12452802	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12601325	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12602129	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12602867	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16961288	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16961412	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1877631	0.93[ASN][1000 genomes]
rs2292526	0.91[AMR][1000 genomes]
rs3744125	0.95[AMR][1000 genomes]
rs3744127	0.95[AMR][1000 genomes]
rs3744132	0.95[AMR][1000 genomes]
rs3744133	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3744136	0.95[AMR][1000 genomes]
rs3744140	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3826305	0.93[AMR][1000 genomes]
rs4074611	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4074612	0.90[AMR][1000 genomes]
rs4074819	0.95[AMR][1000 genomes]
rs4264448	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4275916	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4283273	0.95[AMR][1000 genomes]
rs4321246	0.91[AMR][1000 genomes]
rs4606773	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4621033	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4985695	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4985697	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4985698	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4985703	0.95[AMR][1000 genomes]
rs4985714	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4985719	0.95[AMR][1000 genomes]
rs4985727	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4985739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4985747	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55751545	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56009207	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57812549	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58326998	0.95[AMR][1000 genomes]
rs58472573	0.95[AMR][1000 genomes]
rs58814183	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59394251	0.95[AMR][1000 genomes]
rs60128647	0.90[AMR][1000 genomes]
rs61018209	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7207187	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7210339	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7217970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7223583	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73979053	0.88[AMR][1000 genomes]
rs73979054	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73979058	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73979060	0.90[AMR][1000 genomes]
rs73979061	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73979081	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73979082	0.95[AMR][1000 genomes]
rs73979083	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8064991	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8066111	0.95[AMR][1000 genomes]
rs8067563	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907728	chr17:17013189-17095487	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4985744	M-RIP	Cis_1M	lymphoblastoid	RTeQTL
rs4985744	LOC201164	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17038400-17093800	Strong transcription	Fetal Brain Female	brain
2	chr17:17045200-17093800	Strong transcription	Fetal Stomach	stomach
3	chr17:17051000-17093200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:17056000-17093600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr17:17056600-17093600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr17:17056800-17095000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:17060400-17093400	Strong transcription	Liver	Liver
8	chr17:17060800-17093600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr17:17076200-17094600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr17:17076600-17104600	Weak transcription	K562	blood
11	chr17:17083600-17093200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr17:17084400-17093400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr17:17084400-17095200	Weak transcription	Fetal Kidney	kidney
14	chr17:17084800-17094800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:17084800-17094800	Weak transcription	Fetal Brain Male	brain
16	chr17:17085600-17094800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr17:17086400-17095200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr17:17086400-17104800	Weak transcription	Brain Substantia Nigra	brain
19	chr17:17086400-17106600	Weak transcription	Colonic Mucosa	Colon
20	chr17:17086600-17094800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:17087200-17094800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr17:17087600-17093800	Enhancers	Fetal Heart	heart
23	chr17:17087600-17093800	Genic enhancers	HSMMtube	muscle
24	chr17:17087600-17095400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr17:17087800-17093200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:17087800-17093800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr17:17087800-17094800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr17:17088000-17093600	Weak transcription	NHDF-Ad	bronchial
29	chr17:17088000-17093800	Genic enhancers	Placenta	Placenta
30	chr17:17088000-17094000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr17:17088200-17093400	Weak transcription	Psoas Muscle	Psoas
32	chr17:17088200-17093800	Weak transcription	Brain Anterior Caudate	brain
33	chr17:17088400-17093600	Strong transcription	Thymus	Thymus
34	chr17:17088800-17093400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr17:17089200-17093800	Genic enhancers	HMEC	breast
36	chr17:17089400-17093600	Strong transcription	Dnd41	blood
37	chr17:17089400-17093800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr17:17089400-17093800	Genic enhancers	HSMM	muscle
39	chr17:17089400-17094000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr17:17089400-17095200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr17:17089600-17094800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr17:17089600-17096600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr17:17089800-17093200	Strong transcription	A549	lung
44	chr17:17089800-17093800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr17:17089800-17094000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr17:17089800-17094400	Strong transcription	Primary T cells from cord blood	blood
47	chr17:17090000-17093800	Strong transcription	Fetal Intestine Small	intestine
48	chr17:17090000-17094000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr17:17090200-17094000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr17:17090200-17107000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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