Variant report

Variant	rs1667605
Chromosome Location	chr2:74374884-74374885
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	POLR2A	chr2:74374622-74375592	U87	brain:	n/a	n/a
2	POLR2A	chr2:74374650-74376123	ECC-1	luminal epithelium:	n/a	n/a
3	SP2	chr2:74374836-74375376	HepG2	liver:	n/a	n/a
4	ATF3	chr2:74374829-74375263	A549	lung:	n/a	chr2:74375125-74375134
5	SMARCC1	chr2:74374055-74375582	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr2:74374710-74375414	HCT-116	colon:	n/a	chr2:74375089-74375102 chr2:74375087-74375105
7	ZBTB33	chr2:74374841-74375152	A549	lung:	n/a	n/a
8	MAX	chr2:74374422-74375350	ECC-1	luminal epithelium:	n/a	chr2:74375092-74375102
9	RAD21	chr2:74374804-74375364	H1-hESC	embryonic stem cell:	n/a	chr2:74375088-74375101 chr2:74375167-74375181 chr2:74375085-74375104 chr2:74375089-74375099 chr2:74375130-74375143 chr2:74375087-74375099
10	CEBPD	chr2:74374754-74375247	K562	blood:	n/a	n/a
11	POLR2A	chr2:74373272-74376114	K562	blood:	n/a	n/a
12	ZNF384	chr2:74374512-74375362	K562	blood:	n/a	n/a
13	POLR2A	chr2:74374212-74376798	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr2:74374853-74375199	NT2-D1	testis:	n/a	chr2:74375088-74375102 chr2:74375091-74375102
15	POLR2A	chr2:74374702-74375681	SK-N-SH	brain:	n/a	n/a
16	ETS1	chr2:74374797-74375303	K562	blood:	n/a	n/a
17	MAX	chr2:74374827-74375589	A549	lung:	n/a	chr2:74375092-74375102
18	YY1	chr2:74374630-74375371	K562	blood:	n/a	chr2:74375088-74375102 chr2:74375091-74375102
19	TAF1	chr2:74374807-74375092	GM12891	blood:	n/a	n/a
20	POLR2A	chr2:74374793-74375356	A549	lung:	n/a	n/a
21	JUND	chr2:74374864-74375246	HepG2	liver:	n/a	chr2:74375046-74375060
22	PML	chr2:74374476-74375523	K562	blood:	n/a	n/a
23	POU2F2	chr2:74374783-74375160	GM12878	blood:	n/a	chr2:74375090-74375102
24	FOSL2	chr2:74374813-74376199	HepG2	liver:	n/a	chr2:74375046-74375060
25	TAF1	chr2:74374563-74375388	K562	blood:	n/a	n/a
26	POLR2A	chr2:74374810-74375078	GM12891	blood:	n/a	n/a
27	MXI1	chr2:74374798-74375228	Hela-S3	cervix:	n/a	n/a
28	E2F4	chr2:74374542-74375276	MCF10A-Er-Src	breast:	n/a	n/a
29	REST	chr2:74374842-74375322	SK-N-SH	brain:	n/a	n/a
30	YY1	chr2:74374642-74375394	K562	blood:	n/a	chr2:74375088-74375102 chr2:74375091-74375102
31	MXI1	chr2:74374817-74375640	K562	blood:	n/a	n/a
32	TAF1	chr2:74374817-74375191	SK-N-SH	brain:	n/a	n/a
33	YY1	chr2:74374777-74375267	SK-N-SH	brain:	n/a	chr2:74375088-74375102 chr2:74375091-74375102
34	USF1	chr2:74374875-74375241	A549	lung:	n/a	n/a
35	CTCF	chr2:74374857-74375275	T-47D	breast:	n/a	chr2:74375089-74375102 chr2:74375087-74375105
36	FOXA1	chr2:74374779-74375297	HepG2	liver:	n/a	n/a
37	POLR2A	chr2:74374796-74376078	A549	lung:	n/a	n/a
38	YY1	chr2:74374845-74375062	K562	blood:	n/a	n/a
39	CTCF	chr2:74374795-74375469	HepG2	liver:	n/a	chr2:74375089-74375102 chr2:74375087-74375105
40	JUND	chr2:74374738-74375368	A549	lung:	n/a	chr2:74375046-74375060
41	POLR2A	chr2:74374678-74375492	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr2:74374741-74375421	GM15510	blood:	n/a	n/a
43	POLR2A	chr2:74374763-74375634	HepG2	liver:	n/a	n/a
44	POLR2A	chr2:74374853-74375722	H1-hESC	embryonic stem cell:	n/a	n/a
45	YY1	chr2:74374796-74375178	K562	blood:	n/a	chr2:74375088-74375102 chr2:74375091-74375102
46	ZNF263	chr2:74374872-74375890	HEK293-T-REx	kidney:	n/a	n/a
47	MAX	chr2:74374320-74376068	K562	blood:	n/a	chr2:74375092-74375102
48	PML	chr2:74374749-74375111	GM12878	blood:	n/a	n/a
49	POU2F2	chr2:74374743-74375116	GM12878	blood:	n/a	chr2:74375090-74375102
50	CTCF	chr2:74374834-74375323	H1-hESC	embryonic stem cell:	n/a	chr2:74375089-74375102 chr2:74375087-74375105

No.	Distal block	Cell Line	Cell type
1	chr2:74055393..74058315-chr2:74373246..74376437,5	K562	blood:
2	chr2:74372636..74376479-chr2:74402961..74407334,5	K562	blood:
3	chr2:74374841..74376472-chr2:74433391..74435276,2	K562	blood:
4	chr2:74206459..74210168-chr2:74373577..74376532,3	K562	blood:
5	chr11:63685552..63686203-chr2:74374074..74375012,2	Hela-S3	cervix:
6	chr2:74208160..74210258-chr2:74374135..74376647,3	MCF-7	breast:
7	chr2:74366917..74386173-chr2:74421816..74431613,38	K562	blood:
8	chr17:41438005..41438655-chr2:74374189..74375018,2	Hela-S3	cervix:
9	chr2:74373650..74375455-chr2:74756768..74758705,2	K562	blood:
10	chr2:74210880..74213761-chr2:74373693..74375989,3	K562	blood:
11	chr2:74055762..74057828-chr2:74374741..74376324,2	K562	blood:
12	chr2:74209442..74213118-chr2:74372270..74377274,6	MCF-7	breast:
13	chr2:74210601..74212361-chr2:74374459..74376721,2	MCF-7	breast:
14	chr2:74346321..74348591-chr2:74373615..74376560,4	MCF-7	breast:
15	chr2:74373512..74376720-chr2:74404630..74408955,6	K562	blood:
16	chr2:74367938..74377304-chr2:74421816..74428438,25	K562	blood:
17	chr2:74373555..74376913-chr2:74449791..74454753,5	K562	blood:
18	chr2:74054362..74057947-chr2:74372650..74375089,3	MCF-7	breast:
19	chr2:74360981..74362934-chr2:74373468..74376245,3	MCF-7	breast:
20	chr2:74347130..74350614-chr2:74373490..74375151,4	K562	blood:
21	chr2:74210880..74212548-chr2:74372314..74375193,2	K562	blood:
22	chr2:74372816..74377340-chr2:74403923..74407839,6	MCF-7	breast:
23	chr2:74347177..74347948-chr2:74374539..74375360,2	MCF-7	breast:
24	chr2:74347109..74347870-chr2:74374605..74375136,2	K562	blood:
25	chr2:74346117..74347922-chr2:74374665..74375603,8	MCF-7	breast:
26	chr2:74345450..74348977-chr2:74371413..74376785,7	MCF-7	breast:
27	chr2:74373650..74375879-chr2:74756768..74758827,3	K562	blood:
28	chr16:2013639..2015347-chr2:74374765..74376593,2	MCF-7	breast:

Variant related genes	Relation type
BOLA3-AS1	TF binding region
BOLA3	TF binding region
ENSG00000255989	Chromatin interaction
ENSG00000188687	Chromatin interaction
ENSG00000237883	Chromatin interaction
ENSG00000115317	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000255513	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000115307	Chromatin interaction
ENSG00000217702	Chromatin interaction
ENSG00000140988	Chromatin interaction
ENSG00000114978	Chromatin interaction
ENSG00000255198	Chromatin interaction
ENSG00000124356	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11126426	0.87[ASN][1000 genomes]
rs1620482	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1667601	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1667606	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1667609	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1723292	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34611905	0.81[EUR][1000 genomes]
rs35864597	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs702466	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7559252	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7562297	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs828856	0.81[ASN][1000 genomes]
rs828873	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs828876	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs828877	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs828882	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs828883	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs828884	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs828885	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs828886	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs828888	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs828889	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844168	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74373600-74375600	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr2:74373800-74375800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:74373800-74375800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr2:74374000-74375000	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr2:74374000-74375800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:74374000-74375800	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr2:74374000-74376200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr2:74374000-74376200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:74374000-74376400	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr2:74374200-74375400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:74374200-74375400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:74374200-74375400	Active TSS	A549	lung
13	chr2:74374200-74375400	Active TSS	HSMM	muscle
14	chr2:74374200-74375400	Active TSS	K562	blood
15	chr2:74374200-74375600	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr2:74374200-74375600	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr2:74374200-74375600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:74374200-74375600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr2:74374200-74375600	Bivalent/Poised TSS	HepG2	liver
20	chr2:74374200-74375800	Active TSS	NHDF-Ad	bronchial
21	chr2:74374200-74376000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr2:74374200-74376000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:74374200-74376000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr2:74374200-74376200	Active TSS	H1 Cell Line	embryonic stem cell
25	chr2:74374200-74376600	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr2:74374400-74375200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:74374400-74375200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:74374400-74375200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:74374400-74375200	Active TSS	Muscle Satellite Cultured Cells	--
30	chr2:74374400-74375200	Active TSS	Spleen	Spleen
31	chr2:74374400-74375200	Active TSS	Dnd41	blood
32	chr2:74374400-74375200	Active TSS	GM12878-XiMat	blood
33	chr2:74374400-74375200	Active TSS	Hela-S3	cervix
34	chr2:74374400-74375200	Active TSS	HUVEC	blood vessel
35	chr2:74374400-74375400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:74374400-74375400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:74374400-74375400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:74374400-74375400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:74374400-74375400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:74374400-74375400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:74374400-74375400	Active TSS	Fetal Heart	heart
42	chr2:74374400-74375400	Active TSS	Fetal Intestine Large	intestine
43	chr2:74374400-74375400	Active TSS	Lung	lung
44	chr2:74374400-74375400	Active TSS	Placenta Amnion	Placenta Amnion
45	chr2:74374400-74375400	Active TSS	Right Ventricle	heart
46	chr2:74374400-74375400	Active TSS	HSMMtube	muscle
47	chr2:74374400-74375400	Active TSS	NHLF	lung
48	chr2:74374400-74375400	Active TSS	Osteobl	bone
49	chr2:74374400-74375600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:74374400-74375600	Active TSS	Breast Myoepithelial Primary Cells	Breast

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