Variant report

Variant	rs2064818
Chromosome Location	chr20:30073563-30073564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr20:30073159-30074121	SK-N-SH	brain:	n/a	n/a
2	EP300	chr20:30073300-30074218	SK-N-SH	brain:	n/a	n/a
3	NFIC	chr20:30073427-30074261	SK-N-SH	brain:	n/a	n/a
4	MAZ	chr20:30073525-30073847	K562	blood:	n/a	n/a
5	EP300	chr20:30073465-30073940	SK-N-SH_RA	brain:	n/a	n/a
6	PBX3	chr20:30073268-30074006	SK-N-SH	brain:	n/a	n/a
7	ELF1	chr20:30073554-30073916	SK-N-SH	brain:	n/a	n/a
8	RAD21	chr20:30073552-30073813	SK-N-SH_RA	brain:	n/a	n/a
9	EP300	chr20:30073488-30074078	ECC-1	luminal epithelium:	n/a	n/a
10	NFIC	chr20:30073521-30074101	ECC-1	luminal epithelium:	n/a	n/a
11	YY1	chr20:30073534-30073934	SK-N-SH	brain:	n/a	n/a
12	MAX	chr20:30073146-30074013	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr20:30073415-30073987	HL-60	blood:	n/a	n/a
14	EP300	chr20:30073270-30074175	SK-N-SH	brain:	n/a	n/a
15	RXRA	chr20:30073344-30074080	SK-N-SH	brain:	n/a	chr20:30073830-30073837
16	POLR2A	chr20:30073104-30074106	SK-N-SH	brain:	n/a	n/a
17	SIN3AK20	chr20:30073500-30073911	SK-N-SH	brain:	n/a	n/a
18	TAF1	chr20:30073494-30073932	SK-N-SH	brain:	n/a	n/a
19	TCF12	chr20:30073392-30074105	SK-N-SH	brain:	n/a	n/a
20	MAX	chr20:30073393-30073947	SK-N-SH	brain:	n/a	n/a
21	GATA3	chr20:30073322-30074060	SK-N-SH	brain:	n/a	n/a
22	HMGN3	chr20:30073538-30073765	K562	blood:	n/a	n/a
23	EP300	chr20:30073476-30073924	SK-N-SH_RA	brain:	n/a	n/a
24	POLR2A	chr20:30073399-30073755	SK-N-SH	brain:	n/a	n/a
25	MAZ	chr20:30073394-30074114	IMR90	lung:	n/a	n/a
26	NFIC	chr20:30073060-30074478	SK-N-SH	brain:	n/a	n/a
27	TEAD4	chr20:30073400-30074104	SK-N-SH	brain:	n/a	n/a
28	REST	chr20:30073547-30073810	SK-N-SH	brain:	n/a	n/a
29	NFIC	chr20:30073531-30074014	ECC-1	luminal epithelium:	n/a	n/a
30	PBX3	chr20:30073222-30074160	SK-N-SH	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:30073521-30073571	PFSK-1	brain:	n/a
2	chr20:30073546-30073596	HNPCEpiC	eye:	n/a
3	chr20:30073546-30073596	HCT-116	colon:	n/a
4	chr20:30073521-30073571	AG04449	skin:	fetal
5	chr20:30073537-30073587	Caco-2	colon:	n/a
6	chr20:30073521-30073571	GM12891	blood:	n/a
7	chr20:30073546-30073596	HL-60	blood:	n/a
8	chr20:30073521-30073571	Hela-S3	cervix:	n/a
9	chr20:30073537-30073587	K562	blood:	n/a
10	chr20:30073546-30073596	BE2_C	brain:	n/a
11	chr20:30073546-30073596	HRPEpiC	eye:	n/a
12	chr20:30073521-30073571	HRPEpiC	eye:	n/a
13	chr20:30073521-30073571	SK-N-SH_RA	brain:	n/a
14	chr20:30073546-30073596	H1-hESC	embryonic stem cell:	embryo
15	chr20:30073537-30073587	HEEpiC	esophagus:	n/a
16	chr20:30073521-30073571	CMK	blood:	n/a
17	chr20:30073521-30073571	GM12892	blood:	n/a
18	chr20:30073537-30073587	ECC-1	luminal epithelium:	n/a
19	chr20:30073546-30073596	SKMC	muscle:	n/a
20	chr20:30073537-30073587	HepG2	liver:	n/a
21	chr20:30073521-30073571	GM06990	blood:	n/a
22	chr20:30073537-30073587	LNCaP	prostate:	n/a
23	chr20:30073546-30073596	HAEpiC	amniotic membrane:	n/a
24	chr20:30073521-30073571	SK-N-MC	brain:	n/a
25	chr20:30073546-30073596	GM12878	blood:	n/a
26	chr20:30073537-30073587	A549	lung:	n/a
27	chr20:30073537-30073587	HRCEpiC	kidney:	n/a
28	chr20:30073521-30073571	K562	blood:	n/a
29	chr20:30073521-30073571	HIPEpiC	eye:	n/a
30	chr20:30073537-30073587	RPTEC	kidney:	n/a
31	chr20:30073521-30073571	HepG2	liver:	n/a
32	chr20:30073546-30073596	NHBE	bronchial:	n/a
33	chr20:30073537-30073587	HPAEpiC	pulmonary alveolar:	n/a
34	chr20:30073537-30073587	AG09309	skin:	n/a
35	chr20:30073521-30073571	SAEC	small airway:	n/a
36	chr20:30073521-30073571	ProgFib	skin:	n/a
37	chr20:30073537-30073587	IMR90	lung:	fetal
38	chr20:30073537-30073587	T-47D	breast:	n/a
39	chr20:30073546-30073596	A549	lung:	n/a
40	chr20:30073537-30073587	HNPCEpiC	eye:	n/a
41	chr20:30073521-30073571	HRCEpiC	kidney:	n/a
42	chr20:30073537-30073587	MCF-7	breast:	n/a
43	chr20:30073537-30073587	GM12878	blood:	n/a
44	chr20:30073546-30073596	HEEpiC	esophagus:	n/a
45	chr20:30073537-30073587	NHDF-neo	bronchial:	n/a
46	chr20:30073537-30073587	U87	brain:	n/a
47	chr20:30073537-30073587	BJ	skin:	n/a
48	chr20:30073521-30073571	HEEpiC	esophagus:	n/a
49	chr20:30073546-30073596	MCF-7	breast:	n/a
50	chr20:30073521-30073571	HCPEpiC	choroid plexus:	n/a

No data

Variant related genes	Relation type
LINC00028	TF binding region
LINC00028	CpG island

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2233834	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6057911	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6057912	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61676755	0.91[EUR][1000 genomes]
rs717064	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs752841	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8120526	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869384	chr20:29833386-30605088	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	419 gene(s)	inside rSNPs	diseases
2	nsv470546	chr20:29833609-30235302	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	385 gene(s)	inside rSNPs	diseases
3	nsv1055527	chr20:29833958-30078925	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1062069	chr20:29833958-30153486	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv1062612	chr20:29833958-30219337	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer 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	383 gene(s)	inside rSNPs	diseases
6	nsv1061673	chr20:29833958-30649496	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
7	nsv544232	chr20:29833958-30649496	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
8	nsv1058344	chr20:29835037-30386611	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	402 gene(s)	inside rSNPs	diseases
9	nsv1059672	chr20:29835037-30621271	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	419 gene(s)	inside rSNPs	diseases
10	esv2763228	chr20:29835049-30239522	Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	385 gene(s)	inside rSNPs	diseases
11	nsv949085	chr20:29846303-30473188	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription 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	414 gene(s)	inside rSNPs	diseases
12	nsv1058639	chr20:29877877-30101083	Weak transcription Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv544235	chr20:29877877-30101083	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	nsv1058020	chr20:29877877-30197681	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
15	nsv544236	chr20:29877877-30197681	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
16	nsv1063560	chr20:29877877-30435888	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
17	nsv544237	chr20:29877877-30435888	Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
18	nsv458961	chr20:29893501-30275906	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	383 gene(s)	inside rSNPs	diseases
19	nsv585911	chr20:29893501-30275906	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	383 gene(s)	inside rSNPs	diseases
20	nsv1067177	chr20:29900572-30299363	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	383 gene(s)	inside rSNPs	diseases
21	nsv1067419	chr20:30029545-30162261	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
22	nsv544238	chr20:30029545-30162261	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:30072200-30073600	Weak transcription	Pancreas	Pancrea
2	chr20:30072200-30075400	Weak transcription	A549	lung
3	chr20:30072200-30076800	Weak transcription	Gastric	stomach
4	chr20:30073200-30073600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr20:30073200-30073600	Active TSS	Colon Smooth Muscle	Colon
6	chr20:30073200-30073600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
7	chr20:30073200-30073600	Bivalent Enhancer	Lung	lung
8	chr20:30073200-30073600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
9	chr20:30073200-30073800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr20:30073200-30073800	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr20:30073200-30073800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
12	chr20:30073200-30073800	Enhancers	Fetal Heart	heart
13	chr20:30073200-30073800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
14	chr20:30073200-30073800	Enhancers	Placenta	Placenta
15	chr20:30073200-30073800	Active TSS	Osteobl	bone
16	chr20:30073200-30074000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr20:30073200-30074000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr20:30073200-30074000	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr20:30073200-30074200	Bivalent Enhancer	Fetal Intestine Small	intestine
20	chr20:30073200-30074400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr20:30073200-30074400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr20:30073200-30074400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr20:30073200-30074400	Enhancers	Colonic Mucosa	Colon
24	chr20:30073200-30074600	Enhancers	Primary hematopoietic stem cells	blood
25	chr20:30073400-30073600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
26	chr20:30073400-30073600	Flanking Active TSS	Ovary	ovary
27	chr20:30073400-30073600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
28	chr20:30073400-30073600	Active TSS	K562	blood
29	chr20:30073400-30073600	Flanking Active TSS	NH-A	brain
30	chr20:30073400-30073800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr20:30073400-30073800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr20:30073400-30073800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr20:30073400-30073800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
34	chr20:30073400-30073800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr20:30073400-30073800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr20:30073400-30073800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr20:30073400-30073800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr20:30073400-30073800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr20:30073400-30073800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
40	chr20:30073400-30073800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
41	chr20:30073400-30073800	Bivalent/Poised TSS	Left Ventricle	heart
42	chr20:30073400-30073800	Active TSS	Rectal Smooth Muscle	rectum
43	chr20:30073400-30073800	Flanking Active TSS	Right Atrium	heart
44	chr20:30073400-30073800	Flanking Active TSS	Right Ventricle	heart
45	chr20:30073400-30073800	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr20:30073400-30073800	Bivalent/Poised TSS	HepG2	liver
47	chr20:30073400-30074000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr20:30073400-30074000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr20:30073400-30074000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
50	chr20:30073400-30074000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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