Variant report

Variant	rs13010978
Chromosome Location	chr2:32581486-32581487
allele	A/C/G/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	GATA3	chr2:32581297-32582699	A549	lung:	n/a	n/a
2	TAF1	chr2:32581450-32582696	K562	blood:	n/a	n/a
3	POLR2A	chr2:32581342-32583074	PFSK-1	brain:	n/a	n/a
4	STAT3	chr2:32580974-32581764	Hela-S3	cervix:	n/a	chr2:32581534-32581554
5	POLR2A	chr2:32580986-32582547	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr2:32581402-32582622	K562	blood:	n/a	n/a
7	FOSL2	chr2:32581447-32582772	HepG2	liver:	n/a	n/a
8	RCOR1	chr2:32581463-32582903	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr2:32581399-32583068	GM12891	blood:	n/a	n/a
10	POLR2A	chr2:32581256-32583477	K562	blood:	n/a	n/a
11	POLR2A	chr2:32581042-32583629	IMR90	lung:	n/a	n/a
12	MBD4	chr2:32581393-32582526	HepG2	liver:	n/a	n/a
13	REST	chr2:32581462-32582418	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr2:32581119-32583536	GM18505	blood:	n/a	n/a
15	POLR2A	chr2:32581358-32582870	U87	brain:	n/a	n/a
16	REST	chr2:32580965-32582848	A549	lung:	n/a	n/a
17	MYC	chr2:32581480-32582498	K562	blood:	n/a	chr2:32582019-32582028
18	MAX	chr2:32581436-32582657	HCT-116	colon:	n/a	chr2:32582019-32582028
19	POLR2A	chr2:32581414-32583073	Hela-S3	cervix:	n/a	n/a
20	TAF1	chr2:32581422-32582764	ECC-1	luminal epithelium:	n/a	n/a
21	MAX	chr2:32581326-32583715	A549	lung:	n/a	chr2:32582019-32582028
22	POLR2A	chr2:32581423-32582554	K562	blood:	n/a	n/a
23	POLR2A	chr2:32581452-32583075	ECC-1	luminal epithelium:	n/a	n/a
24	YY1	chr2:32581409-32583024	SK-N-SH	brain:	n/a	chr2:32582303-32582323 chr2:32581946-32581957
25	CREB1	chr2:32581451-32583103	HepG2	liver:	n/a	n/a
26	POLR2A	chr2:32581470-32582427	GM12891	blood:	n/a	n/a
27	POLR2A	chr2:32581138-32582575	K562	blood:	n/a	n/a
28	POLR2A	chr2:32581112-32583592	GM19099	blood:	n/a	n/a
29	POLR2A	chr2:32581335-32583507	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr2:32581115-32582618	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr2:32581374-32583060	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr2:32580852-32583314	PFSK-1	brain:	n/a	n/a
33	NRF1	chr2:32581411-32582585	SK-N-SH	brain:	n/a	chr2:32582044-32582055 chr2:32582041-32582055 chr2:32582023-32582034 chr2:32582043-32582054
34	POLR2A	chr2:32581428-32583386	K562	blood:	n/a	n/a
35	TEAD4	chr2:32581101-32582388	HepG2	liver:	n/a	chr2:32581559-32581568
36	ELF1	chr2:32581435-32582512	HepG2	liver:	n/a	chr2:32582191-32582200 chr2:32581768-32581777 chr2:32582190-32582201
37	STAT3	chr2:32581389-32581666	MCF10A-Er-Src	breast:	n/a	chr2:32581534-32581554
38	CUX1	chr2:32581251-32581769	K562	blood:	n/a	n/a
39	HEY1	chr2:32581384-32583072	K562	blood:	n/a	n/a
40	POLR2A	chr2:32581454-32583288	MCF-7	breast:	n/a	n/a
41	HDAC2	chr2:32581486-32582672	MCF-7	breast:	n/a	n/a
42	GTF2F1	chr2:32581474-32582344	Hela-S3	cervix:	n/a	n/a
43	MAX	chr2:32581429-32583355	K562	blood:	n/a	chr2:32582019-32582028
44	MAX	chr2:32581448-32582964	ECC-1	luminal epithelium:	n/a	chr2:32582019-32582028
45	HEY1	chr2:32581015-32582655	HepG2	liver:	n/a	n/a
46	BCLAF1	chr2:32581417-32582865	GM12878	blood:	n/a	chr2:32581768-32581777 chr2:32581912-32581925 chr2:32582608-32582621 chr2:32582658-32582671 chr2:32582052-32582065 chr2:32582190-32582199
47	RCOR1	chr2:32581454-32582478	K562	blood:	n/a	n/a
48	MAZ	chr2:32581208-32583647	K562	blood:	n/a	chr2:32582019-32582028
49	POLR2A	chr2:32581383-32582528	HCT-116	colon:	n/a	n/a
50	REST	chr2:32581481-32582052	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:32388385..32389940-chr2:32579717..32581806,2	K562	blood:
2	chr2:32581210..32582813-chr9:95430213..95432682,2	MCF-7	breast:
3	chr2:32390024..32393805-chr2:32579476..32583220,6	K562	blood:
4	chr1:249132428..249133033-chr2:32581251..32582094,2	Hela-S3	cervix:
5	chr11:9482245..9482827-chr2:32581425..32582353,2	Hela-S3	cervix:
6	chr2:32502844..32506291-chr2:32580260..32584122,8	K562	blood:
7	chr2:32580250..32582007-chr9:22237411..22239616,2	MCF-7	breast:
8	chr2:32581225..32583704-chr2:32604537..32607336,3	MCF-7	breast:
9	chr10:3827805..3828783-chr2:32581474..32582088,2	HCT-116	colon:
10	chr2:32388440..32390986-chr2:32579691..32583834,6	K562	blood:
11	chr2:32563111..32565206-chr2:32580193..32581985,2	K562	blood:
12	chr2:32502844..32505552-chr2:32580260..32584122,5	K562	blood:
13	chr2:32581282..32582339-chr6:30709753..30710619,3	Hela-S3	cervix:

Variant related genes	Relation type
BIRC6	TF binding region
ENSG00000230046	Chromatin interaction
ENSG00000272716	Chromatin interaction
ENSG00000127080	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000152683	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000171161	Chromatin interaction
ENSG00000119820	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1033750	1.00[CHD][hapmap]
rs13423837	1.00[CHD][hapmap]
rs6543652	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers 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 miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv533153	chr2:32514528-33249136	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	esv2751888	chr2:32539236-33331549	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv516173	chr2:32541438-33329957	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	esv2763243	chr2:32567339-33331778	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32580800-32583200	Active TSS	Liver	Liver
2	chr2:32580800-32583400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr2:32580800-32583400	Active TSS	K562	blood
4	chr2:32581000-32581800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:32581000-32582800	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr2:32581000-32583200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:32581000-32583200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:32581000-32583200	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr2:32581000-32583400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr2:32581000-32583400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr2:32581000-32583400	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr2:32581000-32583400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:32581000-32583400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr2:32581000-32583400	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr2:32581000-32583400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr2:32581000-32583400	Active TSS	Osteobl	bone
17	chr2:32581000-32583600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:32581000-32583600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:32581000-32583800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr2:32581000-32583800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr2:32581000-32584000	Active TSS	GM12878-XiMat	blood
22	chr2:32581200-32581600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:32581200-32581600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr2:32581200-32581600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:32581200-32581600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr2:32581200-32581600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:32581200-32581600	Flanking Active TSS	HUVEC	blood vessel
28	chr2:32581200-32581800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:32581200-32581800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:32581200-32582000	Flanking Active TSS	Dnd41	blood
31	chr2:32581200-32582200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr2:32581200-32583200	Active TSS	Primary T cells from cord blood	blood
33	chr2:32581200-32583200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr2:32581200-32583200	Active TSS	Brain Substantia Nigra	brain
35	chr2:32581200-32583200	Active TSS	Fetal Heart	heart
36	chr2:32581200-32583200	Active TSS	Fetal Lung	lung
37	chr2:32581200-32583200	Active TSS	Stomach Smooth Muscle	stomach
38	chr2:32581200-32583400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:32581200-32583400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:32581200-32583400	Active TSS	Colonic Mucosa	Colon
41	chr2:32581200-32583400	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr2:32581200-32583400	Active TSS	A549	lung
43	chr2:32581200-32583400	Active TSS	HSMMtube	muscle
44	chr2:32581200-32583400	Active TSS	NHDF-Ad	bronchial
45	chr2:32581200-32583400	Active TSS	NHEK	skin
46	chr2:32581200-32583600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:32581200-32583600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:32581200-32583600	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr2:32581200-32583600	Active TSS	Placenta Amnion	Placenta Amnion
50	chr2:32581200-32583600	Active TSS	NHLF	lung

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