Variant report

Variant	rs585190
Chromosome Location	chr11:57437016-57437017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:57436834-57437311	GM12878	blood:	n/a	n/a
2	JUN	chr11:57433825-57437028	K562	blood:	n/a	chr11:57435449-57435458 chr11:57435783-57435797 chr11:57435546-57435555 chr11:57435271-57435280
3	POLR2A	chr11:57436956-57437327	HepG2	liver:	n/a	n/a
4	SREBP1	chr11:57433965-57437117	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57436966-57437016	ovcar-3	ovarian:	n/a
2	chr11:57436966-57437016	Jurkat	blood:	n/a
3	chr11:57436966-57437016	IMR90	lung:	fetal
4	chr11:57436966-57437016	HRE	kidney:	n/a
5	chr11:57436966-57437016	AG04449	skin:	fetal
6	chr11:57436966-57437016	GM19239	blood:	n/a
7	chr11:57436966-57437016	BJ	skin:	n/a
8	chr11:57436966-57437016	GM12892	blood:	n/a
9	chr11:57436966-57437016	NT2-D1	testis:	n/a
10	chr11:57436966-57437016	AG09319	gingival:	n/a
11	chr11:57436966-57437016	HepG2	liver:	n/a
12	chr11:57436966-57437016	SK-N-SH_RA	brain:	n/a
13	chr11:57436966-57437016	BE2_C	brain:	n/a
14	chr11:57436966-57437016	LNCaP	prostate:	n/a
15	chr11:57436966-57437016	SAEC	small airway:	n/a
16	chr11:57436966-57437016	GM12891	blood:	n/a
17	chr11:57436966-57437016	HCM	heart:	n/a
18	chr11:57436966-57437016	Hela-S3	cervix:	n/a
19	chr11:57436966-57437016	CMK	blood:	n/a
20	chr11:57436966-57437016	HMEC	breast:	n/a
21	chr11:57436966-57437016	ProgFib	skin:	n/a
22	chr11:57436966-57437016	HPAEpiC	pulmonary alveolar:	n/a
23	chr11:57436966-57437016	HIPEpiC	eye:	n/a
24	chr11:57436966-57437016	AG09309	skin:	n/a
25	chr11:57436966-57437016	HRPEpiC	eye:	n/a
26	chr11:57436966-57437016	SK-N-SH	brain:	n/a
27	chr11:57436966-57437016	K562	blood:	n/a
28	chr11:57436966-57437016	Hepatocyte	liver:	n/a
29	chr11:57436966-57437016	NH-A	brain:	n/a
30	chr11:57436966-57437016	NB4	blood:	n/a
31	chr11:57436966-57437016	HL-60	blood:	n/a
32	chr11:57436966-57437016	AG04450	lung:	fetal
33	chr11:57436966-57437016	MCF10A-Er-Src	breast:	n/a
34	chr11:57436966-57437016	AoSMC	blood vessel:	n/a
35	chr11:57436966-57437016	ECC-1	luminal epithelium:	n/a
36	chr11:57436966-57437016	HCF	heart:	n/a
37	chr11:57436966-57437016	NHBE	bronchial:	n/a
38	chr11:57436966-57437016	HCT-116	colon:	n/a
39	chr11:57436966-57437016	H1-hESC	embryonic stem cell:	embryo
40	chr11:57436966-57437016	AG10803	skin:	n/a
41	chr11:57436966-57437016	HEK293	kidney:	embryo
42	chr11:57436966-57437016	T-47D	breast:	n/a
43	chr11:57436966-57437016	HNPCEpiC	eye:	n/a
44	chr11:57436966-57437016	SK-N-MC	brain:	n/a
45	chr11:57436966-57437016	PrEC	prostate:	n/a
46	chr11:57436966-57437016	GM12878	blood:	n/a
47	chr11:57436966-57437016	SKMC	muscle:	n/a
48	chr11:57436966-57437016	RPTEC	kidney:	n/a
49	chr11:57436966-57437016	MCF-7	breast:	n/a
50	chr11:57436966-57437016	PANC-1	pancreas:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57434556..57437314-chr11:57447656..57451477,4	MCF-7	breast:
2	chr11:57436045..57439920-chr11:57463580..57467800,3	K562	blood:
3	chr11:57281647..57284609-chr11:57436197..57438569,2	K562	blood:
4	chr11:57423375..57427275-chr11:57433374..57437610,8	MCF-7	breast:
5	chr11:57101540..57104523-chr11:57435455..57437198,2	K562	blood:
6	chr11:57194854..57196805-chr11:57435548..57437119,2	K562	blood:
7	chr11:57435166..57438481-chr11:57528814..57531638,3	K562	blood:
8	chr11:57433936..57437289-chr11:57477964..57482818,9	K562	blood:
9	chr11:57192480..57194732-chr11:57434843..57437661,2	K562	blood:
10	chr11:57434798..57437115-chr11:58345701..58348083,4	MCF-7	breast:
11	chr11:57433884..57439071-chr11:57477629..57483930,15	K562	blood:
12	chr11:57433251..57437103-chr11:58344962..58348416,5	K562	blood:
13	chr11:57435266..57437517-chr11:57478547..57480108,2	MCF-7	breast:
14	chr11:57423095..57430151-chr11:57432283..57438412,24	K562	blood:
15	chr11:57296819..57301795-chr11:57434465..57437903,4	K562	blood:
16	chr11:57091726..57094053-chr11:57435298..57437706,2	K562	blood:
17	chr11:57433212..57437810-chr11:57477098..57481918,8	MCF-7	breast:

No data

Variant related genes	Relation type
ZDHHC5	TF binding region
ZDHHC5	CpG island
ENSG00000213593	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000254662	Chromatin interaction
ENSG00000149136	Chromatin interaction
ENSG00000198561	Chromatin interaction
ENSG00000134809	Chromatin interaction
ENSG00000149115	Chromatin interaction
ENSG00000254462	Chromatin interaction
ENSG00000255073	Chromatin interaction
ENSG00000149150	Chromatin interaction
ENSG00000156603	Chromatin interaction
ENSG00000110031	Chromatin interaction
ENSG00000134802	Chromatin interaction
ENSG00000186660	Chromatin interaction
ENSG00000172409	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10444364	1.00[ASN][1000 genomes]
rs10736687	1.00[ASN][1000 genomes]
rs10750868	1.00[ASN][1000 genomes]
rs10896643	1.00[ASN][1000 genomes]
rs1313360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1553827	1.00[ASN][1000 genomes]
rs1798174	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1939322	1.00[ASN][1000 genomes]
rs2860261	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34430954	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs474073	1.00[ASN][1000 genomes]
rs474464	1.00[ASN][1000 genomes]
rs505995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs523739	1.00[ASN][1000 genomes]
rs542777	1.00[ASN][1000 genomes]
rs552122	1.00[ASN][1000 genomes]
rs554140	1.00[ASN][1000 genomes]
rs557051	1.00[ASN][1000 genomes]
rs55786036	1.00[ASN][1000 genomes]
rs55838210	1.00[ASN][1000 genomes]
rs56879142	1.00[ASN][1000 genomes]
rs58176671	1.00[ASN][1000 genomes]
rs58851976	1.00[ASN][1000 genomes]
rs59046396	1.00[ASN][1000 genomes]
rs60282001	1.00[ASN][1000 genomes]
rs60897155	1.00[ASN][1000 genomes]
rs61444907	1.00[ASN][1000 genomes]
rs61638601	1.00[ASN][1000 genomes]
rs61743110	1.00[ASN][1000 genomes]
rs627861	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs635663	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs637116	1.00[ASN][1000 genomes]
rs648412	1.00[ASN][1000 genomes]
rs7103407	1.00[ASN][1000 genomes]
rs7103768	1.00[ASN][1000 genomes]
rs7118249	1.00[ASN][1000 genomes]
rs7131175	1.00[ASN][1000 genomes]
rs73472468	1.00[ASN][1000 genomes]
rs73482748	1.00[ASN][1000 genomes]
rs73482786	1.00[ASN][1000 genomes]
rs73482796	1.00[ASN][1000 genomes]
rs73482801	1.00[ASN][1000 genomes]
rs7928666	1.00[ASN][1000 genomes]
rs7938752	1.00[ASN][1000 genomes]
rs947940	1.00[ASN][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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57434000-57437400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:57434200-57437200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr11:57436200-57437200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:57436200-57437200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:57436200-57437200	Flanking Active TSS	Brain Anterior Caudate	brain
6	chr11:57436200-57437200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr11:57436200-57437400	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr11:57436200-57437400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:57436400-57437200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:57436400-57437200	Flanking Active TSS	Liver	Liver
11	chr11:57436400-57437200	Flanking Active TSS	Fetal Lung	lung
12	chr11:57436400-57437200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr11:57436400-57437200	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr11:57436400-57437400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr11:57436400-57437400	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr11:57436400-57437600	Weak transcription	Small Intestine	intestine
17	chr11:57436400-57437600	Flanking Active TSS	Dnd41	blood
18	chr11:57436400-57439800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:57436400-57439800	Weak transcription	Gastric	stomach
20	chr11:57436400-57439800	Weak transcription	Ovary	ovary
21	chr11:57436400-57439800	Weak transcription	Spleen	Spleen
22	chr11:57436400-57440200	Weak transcription	Pancreas	Pancrea
23	chr11:57436400-57440400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:57436600-57437200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:57436600-57437200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr11:57436600-57437200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:57436600-57437200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr11:57436600-57437200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr11:57436600-57437200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:57436600-57437200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:57436600-57437200	Flanking Active TSS	HSMM	muscle
32	chr11:57436600-57437200	Flanking Active TSS	NHEK	skin
33	chr11:57436600-57437200	Flanking Active TSS	NHLF	lung
34	chr11:57436600-57437400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:57436600-57437400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:57436600-57437400	Enhancers	Fetal Brain Male	brain
37	chr11:57436600-57437400	Enhancers	Fetal Muscle Trunk	muscle
38	chr11:57436600-57437600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:57436600-57437600	Flanking Active TSS	Hela-S3	cervix
40	chr11:57436600-57437800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:57436600-57437800	Enhancers	Lung	lung
42	chr11:57436600-57438600	Enhancers	Primary B cells from peripheral blood	blood
43	chr11:57436600-57439200	Weak transcription	Aorta	Aorta
44	chr11:57436600-57439800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:57436600-57440400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:57436600-57479000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr11:57436800-57437200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:57436800-57437200	Enhancers	Fetal Kidney	kidney
49	chr11:57436800-57437200	Flanking Active TSS	Psoas Muscle	Psoas
50	chr11:57436800-57437200	Enhancers	Right Atrium	heart

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