Variant report

Variant	rs7573757
Chromosome Location	chr2:36922931-36922932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr2:36922798-36923445	MCF-7	breast:	n/a	chr2:36923101-36923115
2	CTCF	chr2:36922748-36923427	SK-N-SH	brain:	n/a	chr2:36923102-36923115
3	RAD21	chr2:36922677-36923448	SK-N-SH	brain:	n/a	chr2:36923101-36923115
4	RAD21	chr2:36922931-36923287	H1-hESC	embryonic stem cell:	n/a	chr2:36923101-36923115
5	MAX	chr2:36922914-36923303	Hela-S3	cervix:	n/a	n/a
6	RAD21	chr2:36922924-36923435	Hela-S3	cervix:	n/a	chr2:36923101-36923115
7	TCF12	chr2:36922865-36923711	SK-N-SH	brain:	n/a	chr2:36923551-36923560
8	CTCF	chr2:36922871-36923227	H1-hESC	embryonic stem cell:	n/a	chr2:36923102-36923115
9	GATA2	chr2:36922825-36923517	HUVEC	blood vessel:	n/a	n/a
10	RAD21	chr2:36922845-36923351	H1-hESC	embryonic stem cell:	n/a	chr2:36923101-36923115
11	GATA3	chr2:36922911-36923696	SK-N-SH	brain:	n/a	n/a
12	TCF12	chr2:36922870-36923505	SK-N-SH	brain:	n/a	n/a
13	CTCF	chr2:36922920-36923070	MCF-7	breast:	n/a	n/a
14	GATA3	chr2:36922874-36923695	SK-N-SH	brain:	n/a	n/a
15	RAD21	chr2:36922893-36923403	MCF-7	breast:	n/a	chr2:36923101-36923115

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:36922916-36922966	NT2-D1	testis:	n/a
2	chr2:36922916-36922966	AG04450	lung:	fetal
3	chr2:36922916-36922966	SAEC	small airway:	n/a
4	chr2:36922916-36922966	HRCEpiC	kidney:	n/a
5	chr2:36922916-36922966	LNCaP	prostate:	n/a
6	chr2:36922916-36922966	Caco-2	colon:	n/a
7	chr2:36922916-36922966	AG04449	skin:	fetal
8	chr2:36922916-36922966	K562	blood:	n/a
9	chr2:36922916-36922966	BE2_C	brain:	n/a
10	chr2:36922916-36922966	Hela-S3	cervix:	n/a
11	chr2:36922916-36922966	SK-N-SH	brain:	n/a
12	chr2:36922916-36922966	PrEC	prostate:	n/a
13	chr2:36922916-36922966	GM12892	blood:	n/a
14	chr2:36922916-36922966	HRE	kidney:	n/a
15	chr2:36922916-36922966	GM19239	blood:	n/a
16	chr2:36922916-36922966	AG09319	gingival:	n/a
17	chr2:36922916-36922966	HCPEpiC	choroid plexus:	n/a
18	chr2:36922916-36922966	CMK	blood:	n/a
19	chr2:36922916-36922966	Jurkat	blood:	n/a
20	chr2:36922916-36922966	MCF-7	breast:	n/a
21	chr2:36922916-36922966	NB4	blood:	n/a
22	chr2:36922916-36922966	A549	lung:	n/a
23	chr2:36922916-36922966	GM12878	blood:	n/a
24	chr2:36922916-36922966	Hepatocyte	liver:	n/a
25	chr2:36922916-36922966	PANC-1	pancreas:	n/a
26	chr2:36922916-36922966	NH-A	brain:	n/a
27	chr2:36922916-36922966	HEEpiC	esophagus:	n/a
28	chr2:36922916-36922966	HL-60	blood:	n/a
29	chr2:36922916-36922966	HepG2	liver:	n/a
30	chr2:36922916-36922966	ovcar-3	ovarian:	n/a
31	chr2:36922916-36922966	SKMC	muscle:	n/a
32	chr2:36922916-36922966	RPTEC	kidney:	n/a
33	chr2:36922916-36922966	HCF	heart:	n/a
34	chr2:36922916-36922966	HAEpiC	amniotic membrane:	n/a
35	chr2:36922916-36922966	HCM	heart:	n/a
36	chr2:36922916-36922966	HPAEpiC	pulmonary alveolar:	n/a
37	chr2:36922916-36922966	GM12891	blood:	n/a
38	chr2:36922916-36922966	HIPEpiC	eye:	n/a
39	chr2:36922916-36922966	AoSMC	blood vessel:	n/a
40	chr2:36922916-36922966	U87	brain:	n/a
41	chr2:36922916-36922966	MCF10A-Er-Src	breast:	n/a
42	chr2:36922916-36922966	HUVEC	blood vessel:	n/a
43	chr2:36922916-36922966	SK-N-MC	brain:	n/a
44	chr2:36922916-36922966	NHDF-neo	bronchial:	n/a
45	chr2:36922916-36922966	H1-hESC	embryonic stem cell:	embryo
46	chr2:36922916-36922966	ProgFib	skin:	n/a
47	chr2:36922916-36922966	HCT-116	colon:	n/a
48	chr2:36922916-36922966	HRPEpiC	eye:	n/a
49	chr2:36922916-36922966	ECC-1	luminal epithelium:	n/a
50	chr2:36922916-36922966	T-47D	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36922543..36923508-chr2:37012076..37013001,3	MCF-7	breast:
2	chr2:36922695..36923609-chr2:36997471..36998399,4	MCF-7	breast:

No data

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

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17019460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019526	0.92[EUR][1000 genomes]
rs17490288	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62132493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62132494	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62132496	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62132511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62132512	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62132513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62132518	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7558849	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1007757	chr2:36838387-37011384	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv535643	chr2:36838387-37011384	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv873878	chr2:36908661-36942266	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv962062	chr2:36920237-36925000	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36922400-36925200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:36922600-36923000	Enhancers	NHEK	skin
3	chr2:36922600-36923400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:36922600-36924600	Enhancers	Hela-S3	cervix
5	chr2:36922600-36924600	Enhancers	HSMM	muscle
6	chr2:36922800-36923000	Enhancers	Gastric	stomach
7	chr2:36922800-36923000	Enhancers	NHLF	lung
8	chr2:36922800-36923200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:36922800-36923200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:36922800-36923200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:36922800-36923200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr2:36922800-36923200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:36922800-36923200	Enhancers	HSMMtube	muscle
14	chr2:36922800-36923200	Flanking Active TSS	NHDF-Ad	bronchial
15	chr2:36922800-36923400	Enhancers	Ovary	ovary
16	chr2:36922800-36923400	Enhancers	HUVEC	blood vessel
17	chr2:36922800-36923800	Enhancers	Adipose Nuclei	Adipose
18	chr2:36922800-36925000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:36922800-36925200	Enhancers	Fetal Lung	lung
20	chr2:36922800-36925200	Enhancers	NH-A	brain
21	chr2:36922800-36925400	Flanking Active TSS	Osteobl	bone
22	chr2:36922800-36925800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:36922800-36925800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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