Variant report

Variant	rs58365598
Chromosome Location	chr2:20644387-20644388
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:20644318-20645466	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr2:20644362-20644586	Hela-S3	cervix:	n/a	n/a
3	GATA3	chr2:20644375-20644590	T-47D	breast:	n/a	n/a
4	FOXA1	chr2:20643763-20644862	HepG2	liver:	n/a	n/a
5	GATA2	chr2:20644137-20644502	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr2:20644303-20645277	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr2:20644295-20644547	HUVEC	blood vessel:	n/a	n/a
8	FOXA1	chr2:20644193-20644814	HepG2	liver:	n/a	n/a
9	FOXA1	chr2:20643846-20644865	HepG2	liver:	n/a	n/a
10	FOXA1	chr2:20644135-20644652	HepG2	liver:	n/a	n/a
11	GATA3	chr2:20644229-20644583	T-47D	breast:	n/a	n/a
12	MYBL2	chr2:20644262-20644876	HepG2	liver:	n/a	n/a
13	STAT3	chr2:20643784-20644430	MCF10A-Er-Src	breast:	n/a	chr2:20644023-20644032 chr2:20644022-20644031 chr2:20644020-20644034 chr2:20644021-20644032
14	EP300	chr2:20644094-20644778	HepG2	liver:	n/a	chr2:20644358-20644374
15	RFX5	chr2:20643815-20644544	Hela-S3	cervix:	n/a	n/a
16	MYC	chr2:20643793-20644387	MCF10A-Er-Src	breast:	n/a	n/a
17	TBP	chr2:20643875-20644599	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:20644371-20644421	HAEpiC	amniotic membrane:	n/a
2	chr2:20644371-20644421	LNCaP	prostate:	n/a
3	chr2:20644371-20644421	HEEpiC	esophagus:	n/a
4	chr2:20644371-20644421	AG04450	lung:	fetal
5	chr2:20644371-20644421	SAEC	small airway:	n/a
6	chr2:20644371-20644421	HUVEC	blood vessel:	n/a
7	chr2:20644371-20644421	HIPEpiC	eye:	n/a
8	chr2:20644371-20644421	MCF10A-Er-Src	breast:	n/a
9	chr2:20644371-20644421	HMEC	breast:	n/a
10	chr2:20644371-20644421	HCM	heart:	n/a
11	chr2:20644371-20644421	PrEC	prostate:	n/a
12	chr2:20644371-20644421	HEK293	kidney:	embryo
13	chr2:20644371-20644421	HCT-116	colon:	n/a
14	chr2:20644371-20644421	Hepatocyte	liver:	n/a
15	chr2:20644371-20644421	IMR90	lung:	fetal
16	chr2:20644371-20644421	GM19239	blood:	n/a
17	chr2:20644371-20644421	SK-N-MC	brain:	n/a
18	chr2:20644371-20644421	HRE	kidney:	n/a
19	chr2:20644371-20644421	AG10803	skin:	n/a
20	chr2:20644371-20644421	A549	lung:	n/a
21	chr2:20644371-20644421	NHDF-neo	bronchial:	n/a
22	chr2:20644371-20644421	BJ	skin:	n/a
23	chr2:20644371-20644421	SK-N-SH	brain:	n/a
24	chr2:20644371-20644421	AG04449	skin:	fetal
25	chr2:20644371-20644421	HRCEpiC	kidney:	n/a
26	chr2:20644371-20644421	AG09319	gingival:	n/a
27	chr2:20644371-20644421	HPAEpiC	pulmonary alveolar:	n/a
28	chr2:20644371-20644421	Jurkat	blood:	n/a
29	chr2:20644371-20644421	NB4	blood:	n/a
30	chr2:20644371-20644421	K562	blood:	n/a
31	chr2:20644371-20644421	GM12878	blood:	n/a
32	chr2:20644371-20644421	CMK	blood:	n/a
33	chr2:20644371-20644421	HNPCEpiC	eye:	n/a
34	chr2:20644371-20644421	H1-hESC	embryonic stem cell:	embryo
35	chr2:20644371-20644421	Hela-S3	cervix:	n/a
36	chr2:20644371-20644421	HCF	heart:	n/a
37	chr2:20644371-20644421	PFSK-1	brain:	n/a
38	chr2:20644371-20644421	BE2_C	brain:	n/a
39	chr2:20644371-20644421	NT2-D1	testis:	n/a
40	chr2:20644371-20644421	AG09309	skin:	n/a
41	chr2:20644371-20644421	AoSMC	blood vessel:	n/a
42	chr2:20644371-20644421	HRPEpiC	eye:	n/a
43	chr2:20644371-20644421	GM06990	blood:	n/a
44	chr2:20644371-20644421	T-47D	breast:	n/a
45	chr2:20644371-20644421	HCPEpiC	choroid plexus:	n/a
46	chr2:20644371-20644421	ECC-1	luminal epithelium:	n/a
47	chr2:20644371-20644421	ovcar-3	ovarian:	n/a
48	chr2:20644371-20644421	RPTEC	kidney:	n/a
49	chr2:20644371-20644421	NHBE	bronchial:	n/a
50	chr2:20644371-20644421	NH-A	brain:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20549379..20553875-chr2:20644345..20648832,13	MCF-7	breast:
2	chr2:20633992..20655025-chr2:20829429..20854651,127	MCF-7	breast:
3	chr2:20640108..20658716-chr2:20812153..20855311,258	MCF-7	breast:
4	chr2:20644186..20651576-chr2:20790196..20799394,18	MCF-7	breast:
5	chr2:20643596..20652981-chr2:20820571..20828990,20	MCF-7	breast:
6	chr2:20643137..20644982-chr2:20835031..20838121,3	K562	blood:
7	chr2:20643137..20644831-chr2:20835031..20837095,2	K562	blood:

No data

Variant related genes	Relation type
RHOB	TF binding region
RHOB	CpG island
ENSG00000055917	Chromatin interaction
ENSG00000118960	Chromatin interaction
ENSG00000231948	Chromatin interaction
ENSG00000252216	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73221992	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73221999	1.00[ASN][1000 genomes]
rs7579125	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv455830	chr2:20621404-20659862	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv581166	chr2:20621404-20659862	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
3	nsv873717	chr2:20625174-20756900	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv873718	chr2:20627875-20752152	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv873719	chr2:20628882-20756900	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20625000-20646000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:20630600-20644800	Weak transcription	Lung	lung
3	chr2:20632600-20644800	Weak transcription	Aorta	Aorta
4	chr2:20638400-20644400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:20638400-20644600	Weak transcription	Brain Angular Gyrus	brain
6	chr2:20638400-20644600	Weak transcription	Psoas Muscle	Psoas
7	chr2:20639400-20646000	Weak transcription	HSMMtube	muscle
8	chr2:20639600-20644400	Weak transcription	Left Ventricle	heart
9	chr2:20639600-20644400	Weak transcription	Pancreas	Pancrea
10	chr2:20639600-20644800	Weak transcription	Colonic Mucosa	Colon
11	chr2:20639600-20646000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:20639600-20646000	Weak transcription	Gastric	stomach
13	chr2:20639600-20646200	Weak transcription	HMEC	breast
14	chr2:20641600-20645000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:20642000-20644400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:20642000-20646200	Weak transcription	K562	blood
17	chr2:20642200-20644600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:20642600-20644400	Enhancers	Hela-S3	cervix
19	chr2:20642600-20644600	Enhancers	Fetal Kidney	kidney
20	chr2:20643200-20644400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:20643200-20644400	Enhancers	Adipose Nuclei	Adipose
22	chr2:20643200-20644600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr2:20643200-20644600	Enhancers	Rectal Smooth Muscle	rectum
24	chr2:20643200-20644600	Enhancers	HSMM	muscle
25	chr2:20643200-20644600	Enhancers	NHLF	lung
26	chr2:20643200-20644800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:20643200-20645000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:20643200-20645400	Enhancers	Brain Hippocampus Middle	brain
29	chr2:20643200-20646200	Enhancers	NHDF-Ad	bronchial
30	chr2:20643400-20645400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:20643400-20646000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:20643400-20646000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr2:20643400-20646000	Enhancers	Fetal Brain Male	brain
34	chr2:20643400-20646000	Enhancers	Fetal Muscle Leg	muscle
35	chr2:20643400-20646200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:20643600-20644600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:20643600-20644800	Enhancers	Colon Smooth Muscle	Colon
38	chr2:20643600-20645600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:20643600-20646000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:20643600-20646000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:20643600-20646000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:20643600-20650000	Active TSS	Right Atrium	heart
43	chr2:20643800-20644400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:20643800-20644600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr2:20643800-20644600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:20643800-20644600	Weak transcription	Brain Substantia Nigra	brain
47	chr2:20643800-20644600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr2:20643800-20646000	Weak transcription	Fetal Intestine Large	intestine
49	chr2:20644000-20644400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:20644000-20644400	Weak transcription	Fetal Intestine Small	intestine

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