Variant report

Variant	rs2069443
Chromosome Location	chr7:150755173-150755174
allele	A/C
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	chr7:150754493-150760694	K562	blood:	n/a	n/a
2	POLR2A	chr7:150755062-150755770	HL-60	blood:	n/a	n/a
3	CTCF	chr7:150755160-150755310	AG04449	skin:	n/a	n/a
4	SIX5	chr7:150754817-150755449	K562	blood:	n/a	n/a
5	MAX	chr7:150754709-150756211	A549	lung:	n/a	chr7:150756001-150756008 chr7:150755999-150756012 chr7:150755999-150756012 chr7:150755996-150756015 chr7:150756003-150756010
6	CREB1	chr7:150754483-150756028	K562	blood:	n/a	n/a
7	POLR2A	chr7:150755016-150755631	HepG2	liver:	n/a	n/a
8	RELA	chr7:150754933-150755514	GM19099	blood:	n/a	n/a
9	MAX	chr7:150754773-150756263	ECC-1	luminal epithelium:	n/a	chr7:150756001-150756008 chr7:150755999-150756012 chr7:150755999-150756012 chr7:150755996-150756015 chr7:150756003-150756010
10	TAF1	chr7:150755107-150755560	HepG2	liver:	n/a	n/a
11	CTCF	chr7:150755100-150755250	HPAF	blood vessel:	n/a	n/a
12	TCF7L2	chr7:150754907-150755855	Hela-S3	cervix:	n/a	chr7:150755283-150755297
13	GABPA	chr7:150754860-150755586	K562	blood:	n/a	n/a
14	YY1	chr7:150754635-150755855	K562	blood:	n/a	n/a
15	BCLAF1	chr7:150754864-150755567	K562	blood:	n/a	chr7:150755099-150755108
16	SP4	chr7:150754778-150755401	H1-hESC	embryonic stem cell:	n/a	chr7:150755018-150755034
17	POLR2A	chr7:150755081-150755753	GM12878	blood:	n/a	n/a
18	STAT5A	chr7:150754644-150756103	K562	blood:	n/a	chr7:150755855-150755867
19	SIX5	chr7:150754874-150755522	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:150754763-150755815	A549	lung:	n/a	n/a
21	YY1	chr7:150754945-150755544	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr7:150754758-150760600	K562	blood:	n/a	n/a
23	YY1	chr7:150754993-150755522	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr7:150754752-150755674	HEK293	kidney:	n/a	n/a
25	SIX5	chr7:150754810-150755531	H1-hESC	embryonic stem cell:	n/a	n/a
26	RFX5	chr7:150754714-150755275	K562	blood:	n/a	n/a
27	ELK1	chr7:150755003-150755487	Hela-S3	cervix:	n/a	n/a
28	RAD21	chr7:150754962-150755280	K562	blood:	n/a	n/a
29	ZBTB33	chr7:150754890-150755421	HCT-116	colon:	n/a	n/a
30	SRF	chr7:150754879-150755587	ECC-1	luminal epithelium:	n/a	n/a
31	SIN3AK20	chr7:150754689-150755895	MCF-7	breast:	n/a	n/a
32	MXI1	chr7:150754711-150756196	GM12878	blood:	n/a	n/a
33	ELF1	chr7:150754851-150755592	SK-N-SH	brain:	n/a	n/a
34	MAFF	chr7:150755149-150755561	K562	blood:	n/a	n/a
35	SIX5	chr7:150754853-150755456	K562	blood:	n/a	n/a
36	EP300	chr7:150754771-150755903	ECC-1	luminal epithelium:	n/a	n/a
37	BCL3	chr7:150754899-150755572	A549	lung:	n/a	chr7:150755099-150755108
38	MYC	chr7:150754647-150758067	K562	blood:	n/a	chr7:150756001-150756008 chr7:150755999-150756012 chr7:150755999-150756012 chr7:150757089-150757099 chr7:150755996-150756015 chr7:150756003-150756010
39	E2F4	chr7:150754657-150755619	K562	blood:	n/a	n/a
40	POLR2A	chr7:150754592-150755644	H1-neurons	neurons:	n/a	n/a
41	RFX5	chr7:150754662-150755599	HepG2	liver:	n/a	n/a
42	POLR2A	chr7:150754556-150755861	PFSK-1	brain:	n/a	n/a
43	BHLHE40	chr7:150754819-150755703	K562	blood:	n/a	n/a
44	MAFK	chr7:150754877-150755768	Hela-S3	cervix:	n/a	n/a
45	ELK4	chr7:150754662-150755589	HEK293	kidney:	n/a	n/a
46	GTF2F1	chr7:150755046-150755599	K562	blood:	n/a	n/a
47	IRF1	chr7:150754763-150757149	K562	blood:	n/a	chr7:150755018-150755032
48	POLR2A	chr7:150754687-150755815	Hela-S3	cervix:	n/a	n/a
49	NFIC	chr7:150754967-150755547	HepG2	liver:	n/a	n/a
50	POLR2A	chr7:150754631-150757369	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150652621..150654850-chr7:150754233..150756879,2	MCF-7	breast:
2	chr7:150689613..150692426-chr7:150754513..150757333,2	MCF-7	breast:
3	chr7:150754830..150755615-chr7:150780087..150780650,2	MCF-7	breast:

Variant related genes	Relation type
CDK5	TF binding region
SLC4A2	TF binding region
ENSG00000164867	Chromatin interaction
ENSG00000055118	Chromatin interaction
ENSG00000164897	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10245199	0.88[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10270107	0.81[CEU][hapmap];0.81[GIH][hapmap];0.84[MEX][hapmap];0.80[TSI][hapmap]
rs10271154	0.81[CEU][hapmap];0.81[GIH][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap]
rs11765015	0.81[CEU][hapmap];0.85[GIH][hapmap];0.80[MEX][hapmap];0.91[TSI][hapmap]
rs11773852	0.81[CEU][hapmap];0.81[GIH][hapmap];0.80[MEX][hapmap]
rs13247141	0.86[ASN][1000 genomes]
rs1549760	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2069442	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2069456	0.85[CEU][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2303929	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2303931	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34403003	0.88[ASN][1000 genomes]
rs34812229	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62490288	0.85[ASN][1000 genomes]
rs6464127	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
8	nsv526410	chr7:150714812-150775306	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
10	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
11	nsv524928	chr7:150731698-150766799	Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
13	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
14	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
15	nsv889479	chr7:150736382-150785321	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
16	nsv889480	chr7:150736382-150797581	Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
17	nsv1028023	chr7:150738624-150790517	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
18	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
19	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
20	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 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	chr7:150754000-150755400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:150754000-150755600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:150754000-150755600	Active TSS	A549	lung
4	chr7:150754000-150756600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr7:150754000-150756600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:150754200-150755400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr7:150754200-150755800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr7:150754200-150756400	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr7:150754200-150757600	Bivalent/Poised TSS	HepG2	liver
10	chr7:150754400-150755200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:150754400-150755400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr7:150754400-150755400	Active TSS	Muscle Satellite Cultured Cells	--
13	chr7:150754400-150755400	Active TSS	Fetal Intestine Large	intestine
14	chr7:150754400-150755400	Active TSS	HSMM	muscle
15	chr7:150754400-150755600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:150754400-150755600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:150754400-150755600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:150754400-150755600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:150754400-150755600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:150754400-150755600	Active TSS	NHDF-Ad	bronchial
21	chr7:150754400-150755800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr7:150754400-150755800	Active TSS	H9 Cell Line	embryonic stem cell
23	chr7:150754400-150755800	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr7:150754400-150755800	Active TSS	Fetal Kidney	kidney
25	chr7:150754400-150756000	Active TSS	Esophagus	oesophagus
26	chr7:150754400-150756600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr7:150754400-150757400	Active TSS	Psoas Muscle	Psoas
28	chr7:150754400-150757800	Active TSS	Aorta	Aorta
29	chr7:150754600-150755200	Active TSS	Right Atrium	heart
30	chr7:150754600-150755200	Active TSS	NH-A	brain
31	chr7:150754600-150755400	Active TSS	H1 Cell Line	embryonic stem cell
32	chr7:150754600-150755400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:150754600-150755400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:150754600-150755400	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr7:150754600-150755400	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr7:150754600-150755400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:150754600-150755400	Active TSS	Brain Anterior Caudate	brain
38	chr7:150754600-150755400	Active TSS	Colon Smooth Muscle	Colon
39	chr7:150754600-150755400	Active TSS	Fetal Brain Male	brain
40	chr7:150754600-150755400	Active TSS	Fetal Intestine Small	intestine
41	chr7:150754600-150755400	Active TSS	Fetal Thymus	thymus
42	chr7:150754600-150755400	Active TSS	Pancreas	Pancrea
43	chr7:150754600-150755400	Active TSS	Stomach Mucosa	stomach
44	chr7:150754600-150755400	Active TSS	GM12878-XiMat	blood
45	chr7:150754600-150755400	Active TSS	NHLF	lung
46	chr7:150754600-150755600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:150754600-150755600	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr7:150754600-150755600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:150754600-150755600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:150754600-150755600	Active TSS	Brain Germinal Matrix	brain

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