Variant report

Variant	rs60371134
Chromosome Location	chr17:45056841-45056842
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr17:45055890-45057001	ECC-1	luminal epithelium:	n/a	chr17:45056856-45056865 chr17:45056402-45056415 chr17:45056421-45056434 chr17:45056424-45056437
2	HMGN3	chr17:45056643-45056975	K562	blood:	n/a	n/a
3	ZBTB7A	chr17:45055760-45056876	ECC-1	luminal epithelium:	n/a	n/a
4	REST	chr17:45056738-45056921	H1-hESC	embryonic stem cell:	n/a	chr17:45056856-45056865
5	MAX	chr17:45055936-45056903	A549	lung:	n/a	n/a
6	SIN3A	chr17:45056587-45056953	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr17:45056168-45056960	H1-neurons	neurons:	n/a	chr17:45056856-45056865 chr17:45056402-45056415 chr17:45056421-45056434 chr17:45056424-45056437
8	ZBTB7A	chr17:45055722-45056902	ECC-1	luminal epithelium:	n/a	n/a
9	HDAC2	chr17:45056623-45056841	K562	blood:	n/a	n/a
10	POLR2A	chr17:45056396-45056908	HCT-116	colon:	n/a	n/a
11	CHD2	chr17:45056661-45056841	H1-hESC	embryonic stem cell:	n/a	n/a
12	REST	chr17:45056698-45057023	SK-N-SH	brain:	n/a	chr17:45056856-45056865
13	E2F6	chr17:45055821-45056998	A549	lung:	n/a	chr17:45056380-45056390 chr17:45056548-45056560
14	TCF12	chr17:45056026-45056888	ECC-1	luminal epithelium:	n/a	n/a
15	ZNF263	chr17:45055975-45056993	HEK293-T-REx	kidney:	n/a	n/a
16	CTCF	chr17:45056740-45056890	BE2_C	brain:	n/a	n/a
17	POLR2A	chr17:45055267-45057037	H1-neurons	neurons:	n/a	n/a
18	MAX	chr17:45055818-45057154	A549	lung:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:45056795-45056845	NT2-D1	testis:	n/a
2	chr17:45056837-45056887	HCT-116	colon:	n/a
3	chr17:45056795-45056845	HCM	heart:	n/a
4	chr17:45056797-45056847	T-47D	breast:	n/a
5	chr17:45056797-45056847	HepG2	liver:	n/a
6	chr17:45056797-45056847	HEK293	kidney:	embryo
7	chr17:45056795-45056845	AG09319	gingival:	n/a
8	chr17:45056837-45056887	AG09309	skin:	n/a
9	chr17:45056797-45056847	AG04449	skin:	fetal
10	chr17:45056797-45056847	Hepatocyte	liver:	n/a
11	chr17:45056795-45056845	SKMC	muscle:	n/a
12	chr17:45056797-45056847	GM12892	blood:	n/a
13	chr17:45056795-45056845	NH-A	brain:	n/a
14	chr17:45056837-45056887	RPTEC	kidney:	n/a
15	chr17:45056837-45056887	HepG2	liver:	n/a
16	chr17:45056795-45056845	HepG2	liver:	n/a
17	chr17:45056797-45056847	H1-hESC	embryonic stem cell:	embryo
18	chr17:45056837-45056887	HNPCEpiC	eye:	n/a
19	chr17:45056837-45056887	Caco-2	colon:	n/a
20	chr17:45056795-45056845	HL-60	blood:	n/a
21	chr17:45056795-45056845	CMK	blood:	n/a
22	chr17:45056795-45056845	HIPEpiC	eye:	n/a
23	chr17:45056837-45056887	HIPEpiC	eye:	n/a
24	chr17:45056797-45056847	GM12891	blood:	n/a
25	chr17:45056837-45056887	SAEC	small airway:	n/a
26	chr17:45056797-45056847	HRPEpiC	eye:	n/a
27	chr17:45056797-45056847	HAEpiC	amniotic membrane:	n/a
28	chr17:45056837-45056887	HEEpiC	esophagus:	n/a
29	chr17:45056797-45056847	Caco-2	colon:	n/a
30	chr17:45056797-45056847	MCF-7	breast:	n/a
31	chr17:45056837-45056887	ECC-1	luminal epithelium:	n/a
32	chr17:45056837-45056887	HL-60	blood:	n/a
33	chr17:45056797-45056847	IMR90	lung:	fetal
34	chr17:45056795-45056845	PANC-1	pancreas:	n/a
35	chr17:45056795-45056845	HEK293	kidney:	embryo
36	chr17:45056797-45056847	SKMC	muscle:	n/a
37	chr17:45056837-45056887	SKMC	muscle:	n/a
38	chr17:45056797-45056847	NT2-D1	testis:	n/a
39	chr17:45056837-45056887	HPAEpiC	pulmonary alveolar:	n/a
40	chr17:45056797-45056847	BJ	skin:	n/a
41	chr17:45056795-45056845	NHDF-neo	bronchial:	n/a
42	chr17:45056795-45056845	U87	brain:	n/a
43	chr17:45056837-45056887	BE2_C	brain:	n/a
44	chr17:45056797-45056847	AG09319	gingival:	n/a
45	chr17:45056837-45056887	HCPEpiC	choroid plexus:	n/a
46	chr17:45056837-45056887	GM12891	blood:	n/a
47	chr17:45056795-45056845	HUVEC	blood vessel:	n/a
48	chr17:45056837-45056887	NHBE	bronchial:	n/a
49	chr17:45056795-45056845	HRE	kidney:	n/a
50	chr17:45056797-45056847	Jurkat	blood:	n/a

No data

Variant related genes	Relation type
RPRML	TF binding region
RPRML	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12600452	0.86[ASN][1000 genomes]
rs16941404	0.86[ASN][1000 genomes]
rs58582808	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs62075895	0.85[ASN][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	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv531823	chr17:44485771-45067769	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv908562	chr17:44828931-45102413	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv949295	chr17:44836653-45080757	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1067211	chr17:44979111-45057620	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
9	nsv543378	chr17:44979111-45057620	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
10	nsv833466	chr17:45020360-45204537	Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45054400-45057000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
2	chr17:45055000-45057200	Bivalent Enhancer	Placenta	Placenta
3	chr17:45055200-45057200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr17:45055200-45057200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
5	chr17:45055400-45057000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr17:45055400-45057000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
7	chr17:45055400-45057000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
8	chr17:45055400-45057000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
9	chr17:45055400-45057000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
10	chr17:45055400-45057200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr17:45055400-45057200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
12	chr17:45055400-45057200	Bivalent/Poised TSS	HSMM	muscle
13	chr17:45055400-45057400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr17:45055600-45057000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr17:45055600-45057000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
16	chr17:45055600-45057000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
17	chr17:45055600-45057000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr17:45055600-45057200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr17:45055600-45057200	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr17:45055600-45057200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
21	chr17:45055600-45057200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:45055600-45057200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr17:45055600-45057400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:45055600-45057400	Bivalent Enhancer	Fetal Thymus	thymus
25	chr17:45055800-45057000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
26	chr17:45055800-45057000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr17:45055800-45057000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr17:45055800-45057000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr17:45055800-45057000	Active TSS	Aorta	Aorta
30	chr17:45055800-45057000	Flanking Active TSS	Pancreas	Pancrea
31	chr17:45055800-45057000	Flanking Bivalent TSS/Enh	HMEC	breast
32	chr17:45055800-45057000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
33	chr17:45055800-45057200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr17:45055800-45057200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr17:45055800-45057200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
36	chr17:45055800-45057200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr17:45055800-45057200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr17:45055800-45057200	Active TSS	Right Atrium	heart
39	chr17:45055800-45057200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
40	chr17:45055800-45057200	Bivalent/Poised TSS	A549	lung
41	chr17:45055800-45057400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr17:45055800-45057400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr17:45056000-45057000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr17:45056000-45057000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr17:45056000-45057000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr17:45056000-45057000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
47	chr17:45056000-45057000	Active TSS	HepG2	liver
48	chr17:45056000-45057000	Flanking Bivalent TSS/Enh	Osteobl	bone
49	chr17:45056000-45057200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr17:45056000-45057200	Flanking Active TSS	Liver	Liver

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