Variant report

Variant	rs72782605
Chromosome Location	chr2:9983008-9983009
allele	A/G
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	KAP1	chr2:9982721-9984204	HEK293	kidney:	n/a	n/a
2	GABPA	chr2:9982890-9984044	A549	lung:	n/a	chr2:9983539-9983553 chr2:9983542-9983553 chr2:9983542-9983551 chr2:9983542-9983556
3	STAT1	chr2:9982982-9984204	Hela-S3	cervix:	n/a	chr2:9983604-9983613 chr2:9984040-9984052 chr2:9983603-9983614 chr2:9983599-9983619 chr2:9983599-9983619 chr2:9983605-9983613 chr2:9983909-9983921 chr2:9983597-9983609 chr2:9983605-9983614 chr2:9984046-9984058
4	CBX3	chr2:9982631-9984462	K562	blood:	n/a	n/a
5	TCF7L2	chr2:9982992-9983670	HEK293	kidney:	n/a	n/a
6	POLR2A	chr2:9982941-9984260	PANC-1	pancreas:	n/a	n/a
7	MAX	chr2:9982904-9984270	A549	lung:	n/a	chr2:9984044-9984054
8	CEBPD	chr2:9983000-9983554	HepG2	liver:	n/a	n/a
9	MYBL2	chr2:9983000-9984130	HepG2	liver:	n/a	n/a
10	GATA2	chr2:9982933-9984609	SH-SY5Y	brain:	n/a	n/a
11	PML	chr2:9982849-9984141	GM12878	blood:	n/a	n/a
12	MXI1	chr2:9982216-9985161	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr2:9982770-9984174	HepG2	liver:	n/a	n/a
14	TCF12	chr2:9983008-9984096	ECC-1	luminal epithelium:	n/a	n/a
15	MBD4	chr2:9982942-9984106	HepG2	liver:	n/a	n/a
16	POLR2A	chr2:9982956-9985037	Raji	blood:	n/a	n/a
17	POLR2A	chr2:9982970-9984148	HCT-116	colon:	n/a	n/a
18	POLR2A	chr2:9982919-9984440	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr2:9982929-9984304	HCT-116	colon:	n/a	n/a
20	RCOR1	chr2:9982977-9984299	K562	blood:	n/a	n/a
21	POLR2A	chr2:9982961-9984092	K562	blood:	n/a	n/a
22	POLR2A	chr2:9982960-9984378	GM12878	blood:	n/a	n/a
23	MAX	chr2:9982969-9984381	HepG2	liver:	n/a	chr2:9984044-9984054
24	REST	chr2:9982873-9983890	HepG2	liver:	n/a	n/a
25	POLR2A	chr2:9982886-9984499	K562	blood:	n/a	n/a
26	POLR2A	chr2:9982969-9984414	GM19193	blood:	n/a	n/a
27	MYC	chr2:9982586-9984616	A549	lung:	n/a	chr2:9984044-9984054
28	POLR2A	chr2:9982932-9984385	PFSK-1	brain:	n/a	n/a
29	TCF12	chr2:9982794-9984805	A549	lung:	n/a	chr2:9984732-9984741
30	POLR2A	chr2:9982921-9984190	K562	blood:	n/a	n/a
31	E2F6	chr2:9982809-9984298	A549	lung:	n/a	chr2:9983543-9983552
32	SIN3AK20	chr2:9982969-9984426	MCF-7	breast:	n/a	n/a
33	NR2F2	chr2:9982770-9984465	K562	blood:	n/a	n/a
34	MAX	chr2:9982928-9984541	K562	blood:	n/a	chr2:9984044-9984054
35	POLR2A	chr2:9982847-9984146	PFSK-1	brain:	n/a	n/a
36	RCOR1	chr2:9982929-9984929	K562	blood:	n/a	n/a
37	REST	chr2:9982616-9984036	A549	lung:	n/a	n/a
38	MAX	chr2:9982853-9984605	A549	lung:	n/a	chr2:9984044-9984054
39	POLR2A	chr2:9982991-9984208	MCF-7	breast:	n/a	n/a
40	TCF12	chr2:9982964-9984156	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr2:9982783-9984485	Hela-S3	cervix:	n/a	n/a
42	MAZ	chr2:9982484-9984785	IMR90	lung:	n/a	chr2:9984772-9984781 chr2:9984044-9984054
43	FOXA2	chr2:9982902-9984136	A549	lung:	n/a	n/a
44	POLR2A	chr2:9982975-9984298	U87	brain:	n/a	n/a
45	GATA1	chr2:9982777-9984584	PBDE	blood:	n/a	n/a
46	POLR2A	chr2:9982558-9985041	MCF10A-Er-Src	breast:	n/a	n/a
47	MTA3	chr2:9983005-9984573	GM12878	blood:	n/a	n/a
48	MXI1	chr2:9982683-9984313	IMR90	lung:	n/a	n/a
49	FOXA2	chr2:9982683-9983127	HepG2	liver:	n/a	n/a
50	PML	chr2:9983003-9984065	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:16682799..16683351-chr2:9982770..9983539,2	HCT-116	colon:
2	chr1:225117101..225117940-chr2:9982915..9983806,2	Hela-S3	cervix:
3	chr2:9981740..9985209-chr2:10182518..10185707,4	K562	blood:
4	chr2:9981933..9984802-chr2:10182812..10185710,3	K562	blood:
5	chr2:9982271..9986804-chr2:10090021..10093067,7	K562	blood:
6	chr2:9982517..9985169-chr2:10586715..10588876,2	K562	blood:
7	chr2:9901947..9904351-chr2:9980319..9983166,2	K562	blood:
8	chr2:9945778..9947307-chr2:9981778..9983371,2	K562	blood:
9	chr2:9982957..9983900-chr3:149530307..149531181,2	Hela-S3	cervix:
10	chr2:9982092..9985559-chr2:10088577..10093200,6	MCF-7	breast:
11	chr2:9982271..9985181-chr2:10090033..10093358,4	K562	blood:
12	chr2:9981748..9983787-chr2:10179341..10181254,2	K562	blood:

Variant related genes	Relation type
TAF1B	TF binding region
ENSG00000260077	Chromatin interaction
ENSG00000172059	Chromatin interaction
ENSG00000082996	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000127526	Chromatin interaction
ENSG00000257135	Chromatin interaction
ENSG00000134317	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000185842	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1119632	0.91[ASN][1000 genomes]
rs1119633	0.91[ASN][1000 genomes]
rs11887231	0.91[ASN][1000 genomes]
rs13404815	0.91[ASN][1000 genomes]
rs13429581	0.91[ASN][1000 genomes]
rs16867192	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16867203	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2656329	0.91[ASN][1000 genomes]
rs287975	0.91[ASN][1000 genomes]
rs287976	0.91[ASN][1000 genomes]
rs287977	0.91[ASN][1000 genomes]
rs287978	0.91[ASN][1000 genomes]
rs287979	0.91[ASN][1000 genomes]
rs287980	0.91[ASN][1000 genomes]
rs287981	0.91[ASN][1000 genomes]
rs287982	0.91[ASN][1000 genomes]
rs2884174	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56154233	0.91[ASN][1000 genomes]
rs57352580	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58521916	0.91[ASN][1000 genomes]
rs72780999	0.98[ASN][1000 genomes]
rs72782633	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72782634	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72782637	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9973577	0.91[ASN][1000 genomes]
rs9973654	0.91[ASN][1000 genomes]
rs9973905	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv873628	chr2:9949464-9985670	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
5	nsv873629	chr2:9949464-10016627	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
6	nsv873630	chr2:9953949-10030024	Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
7	nsv873631	chr2:9975557-10059770	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
8	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 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	chr2:9982600-9983200	Flanking Active TSS	A549	lung
2	chr2:9982600-9983400	Flanking Active TSS	Dnd41	blood
3	chr2:9982600-9984200	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr2:9982800-9983200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr2:9982800-9983400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:9982800-9983400	Flanking Bivalent TSS/Enh	HepG2	liver
7	chr2:9982800-9983400	Flanking Active TSS	NHDF-Ad	bronchial
8	chr2:9982800-9984000	Active TSS	Liver	Liver
9	chr2:9982800-9984200	Active TSS	Brain Cingulate Gyrus	brain
10	chr2:9982800-9984200	Active TSS	Brain Hippocampus Middle	brain
11	chr2:9982800-9984200	Active TSS	Stomach Smooth Muscle	stomach
12	chr2:9982800-9984400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:9982800-9984400	Active TSS	Brain Anterior Caudate	brain
14	chr2:9982800-9984400	Active TSS	Fetal Brain Female	brain
15	chr2:9982800-9984600	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr2:9982800-9984600	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr2:9982800-9984600	Active TSS	K562	blood
18	chr2:9982800-9984600	Active TSS	NH-A	brain
19	chr2:9982800-9984800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr2:9982800-9984800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:9982800-9984800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:9982800-9985200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:9982800-9985200	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr2:9983000-9983200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
25	chr2:9983000-9983200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:9983000-9983200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:9983000-9983200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:9983000-9983200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:9983000-9983200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:9983000-9983200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr2:9983000-9983200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:9983000-9983200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:9983000-9983200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr2:9983000-9983200	Flanking Active TSS	Placenta	Placenta
35	chr2:9983000-9983200	Enhancers	Lung	lung
36	chr2:9983000-9983200	Enhancers	Small Intestine	intestine
37	chr2:9983000-9983200	Flanking Active TSS	Hela-S3	cervix
38	chr2:9983000-9983200	Flanking Active TSS	NHLF	lung
39	chr2:9983000-9983400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:9983000-9983400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:9983000-9983400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr2:9983000-9983400	Flanking Active TSS	Primary B cells from peripheral blood	blood
43	chr2:9983000-9983400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr2:9983000-9983400	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr2:9983000-9983400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr2:9983000-9983400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:9983000-9983400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr2:9983000-9983400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr2:9983000-9983400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:9983000-9983400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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