Variant report

Variant	rs1555832
Chromosome Location	chr1:62731996-62731997
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr1:62731995-62731997	MCF-7	breast:	n/a	n/a
2	CTCF	chr1:62731993-62732123	MCF-7	breast:	n/a	n/a
3	POLR2A	chr1:62731986-62732250	A549	lung:	n/a	n/a
4	MYC	chr1:62731929-62732257	MCF-7	breast:	n/a	n/a
5	CTCF	chr1:62731963-62732257	GM19239	blood:	n/a	n/a
6	MYC	chr1:62731969-62732279	MCF-7	breast:	n/a	n/a
7	MYC	chr1:62731969-62732262	MCF-7	breast:	n/a	n/a
8	POLR2A	chr1:62731977-62732083	Gliobla	brain:	n/a	n/a
9	POLR2A	chr1:62731875-62732360	MCF-7	breast:	n/a	n/a
10	POLR2A	chr1:62731521-62732409	HepG2	liver:	n/a	n/a
11	POLR2A	chr1:62731944-62732319	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
KANK4	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10493318	0.81[ASN][1000 genomes]
rs11207951	0.82[EUR][1000 genomes]
rs11207955	0.81[ASN][1000 genomes]
rs11207956	0.81[ASN][1000 genomes]
rs11579934	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11583803	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12031172	0.81[ASN][1000 genomes]
rs12031176	0.81[ASN][1000 genomes]
rs12038843	0.90[ASN][1000 genomes]
rs12043263	0.83[ASN][1000 genomes]
rs12123763	0.81[ASN][1000 genomes]
rs12127630	0.81[ASN][1000 genomes]
rs12138544	0.81[ASN][1000 genomes]
rs17855078	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34477066	0.81[ASN][1000 genomes]
rs3850629	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3861936	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59025845	0.82[EUR][1000 genomes]
rs9804022	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
5	esv3408127	chr1:62729964-62734262	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62707600-62732000	Weak transcription	Gastric	stomach
2	chr1:62711600-62737200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:62721000-62739400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:62728000-62734800	Weak transcription	Fetal Brain Male	brain
5	chr1:62728600-62732000	Weak transcription	Fetal Kidney	kidney
6	chr1:62729000-62737600	Weak transcription	Right Atrium	heart
7	chr1:62729200-62732000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:62729400-62732000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:62729400-62732600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:62729400-62734400	Strong transcription	Placenta Amnion	Placenta Amnion
11	chr1:62729600-62732000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:62729600-62732000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:62729600-62732000	Weak transcription	Fetal Lung	lung
14	chr1:62729600-62734000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:62729600-62736800	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:62729600-62737400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:62729600-62737400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:62729600-62737600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:62729600-62737800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:62729800-62737400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:62730400-62732000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:62730400-62732000	Strong transcription	Fetal Stomach	stomach
23	chr1:62730600-62732400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:62730800-62734000	Strong transcription	Adipose Nuclei	Adipose
25	chr1:62731400-62734600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr1:62731400-62734800	Strong transcription	HepG2	liver
27	chr1:62731600-62732400	Strong transcription	Placenta	Placenta
28	chr1:62731800-62732000	Enhancers	Spleen	Spleen
29	chr1:62731800-62732200	ZNF genes & repeats	Esophagus	oesophagus
30	chr1:62731800-62732400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:62731800-62732400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:62731800-62732400	Strong transcription	Liver	Liver
33	chr1:62731800-62732800	Strong transcription	Fetal Intestine Small	intestine
34	chr1:62731800-62733200	Genic enhancers	Pancreas	Pancrea

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