Variant report

Variant	rs1783985
Chromosome Location	chr11:57431470-57431471
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:6)
LncRNA
region (count:0)
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	chr11:57431257-57431481	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57423642..57427041-chr11:57427345..57431533,5	K562	blood:
2	chr11:57430324..57432082-chr11:57433263..57435317,2	MCF-7	breast:
3	chr11:57431371..57436913-chr11:57505728..57511660,10	K562	blood:
4	chr11:57427698..57431931-chr11:57435517..57438480,4	MCF-7	breast:
5	chr11:57281807..57284360-chr11:57431208..57434169,2	K562	blood:
6	chr11:57297338..57300133-chr11:57430692..57432279,2	K562	blood:

No data

Variant related genes	Relation type
ZDHHC5	TF binding region
ENSG00000211450	Chromatin interaction
ENSG00000134809	Chromatin interaction
ENSG00000254732	Chromatin interaction
ENSG00000149150	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000172409	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10750870	0.81[ASN][1000 genomes]
rs10792110	0.84[ASN][1000 genomes]
rs10896644	0.82[ASN][1000 genomes]
rs10896653	0.82[ASN][1000 genomes]
rs11229109	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11570176	0.85[ASN][1000 genomes]
rs11570181	0.85[ASN][1000 genomes]
rs12270209	0.84[ASN][1000 genomes]
rs12274865	0.84[ASN][1000 genomes]
rs12363024	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12805343	0.82[ASN][1000 genomes]
rs1424753	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1613592	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1624389	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1631684	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1647394	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1647403	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17455422	0.84[ASN][1000 genomes]
rs17455626	0.85[ASN][1000 genomes]
rs1783818	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1783824	0.82[ASN][1000 genomes]
rs1783827	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1783828	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1783829	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1783976	0.85[ASN][1000 genomes]
rs1783977	0.80[EUR][1000 genomes]
rs1783978	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1783979	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1783980	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1783981	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1783983	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1783984	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1785498	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1785499	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1798172	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1798173	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1798177	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2156638	0.85[ASN][1000 genomes]
rs2956981	0.82[ASN][1000 genomes]
rs2956982	0.82[ASN][1000 genomes]
rs3017889	0.82[ASN][1000 genomes]
rs36036499	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4611222	0.85[ASN][1000 genomes]
rs56392705	0.82[ASN][1000 genomes]
rs644219	0.82[ASN][1000 genomes]
rs645145	0.82[ASN][1000 genomes]
rs652191	0.82[ASN][1000 genomes]
rs653889	0.82[ASN][1000 genomes]
rs659165	0.82[ASN][1000 genomes]
rs671508	0.82[ASN][1000 genomes]
rs682258	0.82[ASN][1000 genomes]
rs686489	0.83[ASN][1000 genomes]
rs7105506	0.85[ASN][1000 genomes]
rs7115528	0.85[ASN][1000 genomes]
rs7117020	0.82[ASN][1000 genomes]
rs7120868	0.85[ASN][1000 genomes]
rs7479922	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7947357	0.83[EUR][1000 genomes]
rs929934	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1783985	TIMM10	Cis_1M	lymphoblastoid	RTeQTL
rs1783985	YPEL4	cis	lung	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57426000-57434000	Weak transcription	Fetal Heart	heart
2	chr11:57426000-57434000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:57426000-57434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:57426000-57434200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:57427000-57431800	Strong transcription	Fetal Brain Female	brain
6	chr11:57427400-57434000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:57427600-57434000	Weak transcription	NHDF-Ad	bronchial
8	chr11:57428400-57434000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:57428400-57434200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:57428800-57434000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:57428800-57434200	Weak transcription	Fetal Brain Male	brain
12	chr11:57429000-57433600	Weak transcription	Hela-S3	cervix
13	chr11:57429000-57433800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:57429000-57433800	Weak transcription	Pancreas	Pancrea
15	chr11:57429000-57434000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:57429000-57434000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:57429000-57434000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:57429000-57434000	Weak transcription	A549	lung
19	chr11:57429000-57434200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:57429000-57434200	Weak transcription	Aorta	Aorta
21	chr11:57429000-57434200	Weak transcription	Esophagus	oesophagus
22	chr11:57429000-57434200	Weak transcription	Left Ventricle	heart
23	chr11:57429000-57434400	Weak transcription	Gastric	stomach
24	chr11:57429000-57434400	Weak transcription	Small Intestine	intestine
25	chr11:57429200-57433600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:57429200-57433800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:57429200-57433800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:57429200-57433800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:57429200-57433800	Weak transcription	HepG2	liver
30	chr11:57429200-57434000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:57429200-57434000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:57429200-57434000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr11:57429200-57434000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr11:57429200-57434000	Weak transcription	Psoas Muscle	Psoas
35	chr11:57429200-57434000	Weak transcription	NH-A	brain
36	chr11:57429200-57434200	Weak transcription	Brain Substantia Nigra	brain
37	chr11:57429200-57434200	Weak transcription	Colonic Mucosa	Colon
38	chr11:57429400-57433800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:57429400-57433800	Weak transcription	HMEC	breast
40	chr11:57429400-57434000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr11:57429400-57434000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr11:57429600-57434000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:57429600-57434200	Weak transcription	Ovary	ovary
44	chr11:57429800-57434000	Weak transcription	Fetal Intestine Small	intestine
45	chr11:57429800-57434000	Weak transcription	Right Ventricle	heart
46	chr11:57429800-57434200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:57430000-57433600	Weak transcription	Primary B cells from cord blood	blood
48	chr11:57430000-57433600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:57430000-57434000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:57430200-57433200	Weak transcription	Primary hematopoietic stem cells	blood

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