Variant report

Variant	rs41312736
Chromosome Location	chr1:62677588-62677589
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:62677580-62678411	H1-hESC	embryonic stem cell:	n/a	n/a
2	JUND	chr1:62677544-62677942	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:62677525-62680163	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:62677510-62680500	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD2	chr1:62675567-62679535	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:62677530-62677936	H1-hESC	embryonic stem cell:	n/a	n/a
7	GTF2F1	chr1:62675517-62679496	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr1:62677544-62678395	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr1:62671110-62680443	H1-hESC	embryonic stem cell:	n/a	n/a
10	SP4	chr1:62677503-62678717	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr1:62677516-62679529	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr1:62677495-62677941	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF7	chr1:62677524-62678573	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr1:62672294-62680406	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:62677585-62677635	Jurkat	blood:	n/a
2	chr1:62677585-62677635	GM12891	blood:	n/a
3	chr1:62677585-62677635	AoSMC	blood vessel:	n/a
4	chr1:62677585-62677635	SK-N-SH_RA	brain:	n/a
5	chr1:62677585-62677635	NH-A	brain:	n/a
6	chr1:62677585-62677635	HEEpiC	esophagus:	n/a
7	chr1:62677585-62677635	H1-hESC	embryonic stem cell:	embryo
8	chr1:62677585-62677635	CMK	blood:	n/a
9	chr1:62677585-62677635	HUVEC	blood vessel:	n/a
10	chr1:62677585-62677635	IMR90	lung:	fetal
11	chr1:62677585-62677635	RPTEC	kidney:	n/a
12	chr1:62677585-62677635	T-47D	breast:	n/a
13	chr1:62677585-62677635	ovcar-3	ovarian:	n/a
14	chr1:62677585-62677635	HIPEpiC	eye:	n/a
15	chr1:62677585-62677635	GM06990	blood:	n/a
16	chr1:62677585-62677635	MCF-7	breast:	n/a
17	chr1:62677585-62677635	AG04449	skin:	fetal
18	chr1:62677585-62677635	GM12892	blood:	n/a
19	chr1:62677585-62677635	NT2-D1	testis:	n/a
20	chr1:62677585-62677635	PrEC	prostate:	n/a
21	chr1:62677585-62677635	NHDF-neo	bronchial:	n/a
22	chr1:62677585-62677635	SAEC	small airway:	n/a
23	chr1:62677585-62677635	GM12878	blood:	n/a
24	chr1:62677585-62677635	HepG2	liver:	n/a
25	chr1:62677585-62677635	NHBE	bronchial:	n/a
26	chr1:62677585-62677635	Hepatocyte	liver:	n/a
27	chr1:62677585-62677635	SK-N-SH	brain:	n/a
28	chr1:62677585-62677635	AG09309	skin:	n/a
29	chr1:62677585-62677635	SKMC	muscle:	n/a
30	chr1:62677585-62677635	U87	brain:	n/a
31	chr1:62677585-62677635	GM19239	blood:	n/a
32	chr1:62677585-62677635	HCT-116	colon:	n/a
33	chr1:62677585-62677635	HL-60	blood:	n/a
34	chr1:62677585-62677635	HCF	heart:	n/a
35	chr1:62677585-62677635	ProgFib	skin:	n/a
36	chr1:62677585-62677635	MCF10A-Er-Src	breast:	n/a
37	chr1:62677585-62677635	NB4	blood:	n/a
38	chr1:62677585-62677635	Hela-S3	cervix:	n/a
39	chr1:62677585-62677635	Caco-2	colon:	n/a
40	chr1:62677585-62677635	HRPEpiC	eye:	n/a
41	chr1:62677585-62677635	HNPCEpiC	eye:	n/a
42	chr1:62677585-62677635	HCPEpiC	choroid plexus:	n/a
43	chr1:62677585-62677635	HRCEpiC	kidney:	n/a
44	chr1:62677585-62677635	HAEpiC	amniotic membrane:	n/a
45	chr1:62677585-62677635	HMEC	breast:	n/a
46	chr1:62677585-62677635	ECC-1	luminal epithelium:	n/a
47	chr1:62677585-62677635	LNCaP	prostate:	n/a
48	chr1:62677585-62677635	AG09319	gingival:	n/a
49	chr1:62677585-62677635	PFSK-1	brain:	n/a
50	chr1:62677585-62677635	HPAEpiC	pulmonary alveolar:	n/a

No data

Variant related genes	Relation type
ENSG00000237227	TF binding region
ENSG00000237227	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17379608	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41305850	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4915801	0.83[AMR][1000 genomes]
rs67084528	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv870842	chr1:62644118-62679202	Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62664800-62677800	Weak transcription	Placenta	Placenta
2	chr1:62666000-62695400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:62671800-62678200	Strong transcription	H1 Cell Line	embryonic stem cell
4	chr1:62674400-62678800	Weak transcription	Colonic Mucosa	Colon
5	chr1:62675800-62684600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:62676200-62680400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:62676200-62683400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:62676200-62683600	Weak transcription	Right Atrium	heart
9	chr1:62676200-62689600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:62676400-62677800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:62676600-62677600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:62676800-62677800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:62677000-62677800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:62677000-62680600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr1:62677200-62678000	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:62677200-62678200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:62677200-62680600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:62677200-62682600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:62677200-62689400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:62677200-62693400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:62677200-62694000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:62677200-62694000	Weak transcription	Fetal Lung	lung
23	chr1:62677400-62683000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:62677400-62683200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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