Variant report

Variant	rs13023671
Chromosome Location	chr2:114735188-114735189
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	MAFK	chr2:114735172-114736138	HepG2	liver:	n/a	chr2:114735694-114735704
2	CEBPZ	chr2:114735098-114736250	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:114734609-114736884	HepG2	liver:	n/a	n/a
4	MYBL2	chr2:114734478-114738477	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:114734525-114735486	GM12891	blood:	n/a	n/a
6	POLR2A	chr2:114734945-114735653	U87	brain:	n/a	n/a
7	CEBPB	chr2:114735042-114736758	HepG2	liver:	n/a	chr2:114735799-114735810
8	TEAD4	chr2:114734792-114736870	HepG2	liver:	n/a	n/a
9	SP1	chr2:114734856-114736305	HepG2	liver:	n/a	n/a
10	FOXA2	chr2:114734545-114736465	HepG2	liver:	n/a	n/a
11	POLR2A	chr2:114734568-114736048	PANC-1	pancreas:	n/a	n/a
12	JUND	chr2:114735094-114735492	HepG2	liver:	n/a	n/a
13	POLR2A	chr2:114735026-114735237	HUVEC	blood vessel:	n/a	n/a
14	CHD2	chr2:114734698-114736606	HepG2	liver:	n/a	n/a
15	RAD21	chr2:114735175-114735828	MCF-7	breast:	n/a	chr2:114735462-114735481 chr2:114735679-114735692
16	HNF4A	chr2:114735100-114736122	HepG2	liver:	n/a	chr2:114735661-114735669 chr2:114735435-114735443
17	FOSL2	chr2:114734637-114736836	HepG2	liver:	n/a	chr2:114735695-114735704 chr2:114735694-114735706 chr2:114735697-114735704 chr2:114735971-114735982 chr2:114735696-114735704
18	POLR2A	chr2:114734270-114737182	HepG2	liver:	n/a	n/a
19	POLR2A	chr2:114734593-114736611	HepG2	liver:	n/a	n/a
20	CREB1	chr2:114734601-114737261	HepG2	liver:	n/a	n/a
21	HEY1	chr2:114734625-114737653	HepG2	liver:	n/a	n/a
22	FOSL2	chr2:114734993-114736280	HepG2	liver:	n/a	chr2:114735695-114735704 chr2:114735694-114735706 chr2:114735697-114735704 chr2:114735971-114735982 chr2:114735696-114735704
23	MYBL2	chr2:114734556-114736571	HepG2	liver:	n/a	n/a
24	POLR2A	chr2:114734646-114736832	HepG2	liver:	n/a	n/a
25	FOXA1	chr2:114734947-114736371	HepG2	liver:	n/a	n/a
26	POLR2A	chr2:114734601-114735498	HepG2	liver:	n/a	n/a
27	POLR2A	chr2:114734635-114736299	A549	lung:	n/a	n/a
28	POLR2A	chr2:114734584-114735590	GM12892	blood:	n/a	n/a
29	JUN	chr2:114735119-114736282	HepG2	liver:	n/a	chr2:114735695-114735704 chr2:114735694-114735706 chr2:114735697-114735704 chr2:114735971-114735982 chr2:114735696-114735704
30	JUND	chr2:114735036-114736207	HepG2	liver:	n/a	chr2:114735695-114735704 chr2:114735694-114735705 chr2:114735694-114735706 chr2:114735697-114735704 chr2:114735971-114735982 chr2:114735696-114735704
31	FOXA2	chr2:114735076-114736255	HepG2	liver:	n/a	n/a
32	CEBPB	chr2:114735023-114736749	HepG2	liver:	n/a	chr2:114735799-114735810
33	POLR2A	chr2:114733773-114735381	GM12878	blood:	n/a	n/a
34	POLR2A	chr2:114734623-114735633	HepG2	liver:	n/a	n/a
35	SMC3	chr2:114735005-114736296	HepG2	liver:	n/a	chr2:114735463-114735477
36	USF2	chr2:114734945-114736238	HepG2	liver:	n/a	chr2:114735676-114735692
37	FOXA1	chr2:114734947-114736355	HepG2	liver:	n/a	n/a
38	TCF12	chr2:114735162-114736221	HepG2	liver:	n/a	chr2:114735602-114735610
39	HNF4A	chr2:114735182-114736142	HepG2	liver:	n/a	chr2:114735661-114735669 chr2:114735435-114735443
40	POLR2A	chr2:114734918-114735599	GM12878	blood:	n/a	n/a
41	HDAC2	chr2:114735038-114736260	HepG2	liver:	n/a	chr2:114736071-114736090
42	RAD21	chr2:114735034-114736262	HepG2	liver:	n/a	chr2:114735462-114735481 chr2:114735679-114735692
43	RAD21	chr2:114735049-114736272	HepG2	liver:	n/a	chr2:114735462-114735481 chr2:114735679-114735692
44	NFIC	chr2:114734581-114736537	HepG2	liver:	n/a	chr2:114735586-114735614 chr2:114736185-114736201
45	MAX	chr2:114734733-114736645	HepG2	liver:	n/a	chr2:114735696-114735705 chr2:114735695-114735704
46	POLR2A	chr2:114735006-114735609	U87	brain:	n/a	n/a
47	MBD4	chr2:114734503-114736773	HepG2	liver:	n/a	n/a
48	EP300	chr2:114735141-114736524	HepG2	liver:	n/a	chr2:114735695-114735704
49	CTCF	chr2:114735170-114735856	HCT-116	colon:	n/a	chr2:114735461-114735479 chr2:114735463-114735484
50	TBP	chr2:114734757-114736652	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:114727885..114731158-chr2:114732543..114736928,5	K562	blood:
2	chr2:114735108..114735885-chr2:115840904..115841609,2	MCF-7	breast:
3	chr2:114735006..114735845-chr2:115308620..115309837,4	MCF-7	breast:
4	chr2:114735044..114736090-chr2:115308641..115309989,10	MCF-7	breast:
5	chr2:114734985..114735963-chr2:115300641..115301514,3	MCF-7	breast:
6	chr2:114735119..114736107-chr2:115301018..115301565,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234199	TF binding region
ENSG00000243179	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10496454	0.81[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11676281	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11676592	1.00[AFR][1000 genomes]
rs11678413	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11680166	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11681425	0.81[CEU][hapmap];0.91[CHD][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11681925	1.00[AFR][1000 genomes]
rs11686283	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11695436	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12996997	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13011246	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17045951	0.82[CHD][hapmap]
rs17046767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17197639	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2046545	0.81[CEU][hapmap];0.91[CHD][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2292100	0.81[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34803179	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35596137	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35680405	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35820702	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs3748997	0.81[CEU][hapmap];0.91[CHD][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6711054	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6723553	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71416571	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71416580	1.00[AFR][1000 genomes]
rs72952576	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72954508	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7590041	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114705200-114736000	Weak transcription	Gastric	stomach
2	chr2:114705200-114737600	Weak transcription	Esophagus	oesophagus
3	chr2:114710400-114735800	Weak transcription	Colonic Mucosa	Colon
4	chr2:114711200-114735400	Weak transcription	Fetal Lung	lung
5	chr2:114711800-114735400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:114713800-114735200	Weak transcription	Ovary	ovary
7	chr2:114713800-114736200	Weak transcription	Fetal Stomach	stomach
8	chr2:114714400-114735200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:114715000-114744000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:114715200-114735600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:114715600-114735400	Weak transcription	K562	blood
12	chr2:114715600-114737000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:114718600-114735400	Weak transcription	Adipose Nuclei	Adipose
14	chr2:114718800-114743200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:114721200-114735800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:114724200-114735200	Weak transcription	Brain Substantia Nigra	brain
17	chr2:114727400-114735200	Strong transcription	Thymus	Thymus
18	chr2:114727400-114735400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:114727600-114735600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:114727600-114736400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:114727600-114736800	Weak transcription	A549	lung
22	chr2:114729000-114735600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:114729600-114737000	Weak transcription	Placenta	Placenta
24	chr2:114731600-114735200	Weak transcription	Fetal Kidney	kidney
25	chr2:114731600-114735200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr2:114732400-114737400	Weak transcription	Lung	lung
27	chr2:114732600-114735600	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:114732800-114735200	Strong transcription	NHLF	lung
29	chr2:114733000-114735200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
30	chr2:114733000-114735400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:114733200-114736000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:114733400-114735200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:114733400-114735200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:114733400-114735600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:114733400-114737400	Weak transcription	GM12878-XiMat	blood
36	chr2:114733400-114741200	Weak transcription	Liver	Liver
37	chr2:114733400-114743800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:114733600-114735400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:114733800-114735800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr2:114733800-114736600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:114733800-114736800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:114733800-114741600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:114734000-114736200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr2:114734000-114736800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr2:114734000-114737200	Enhancers	HMEC	breast
46	chr2:114734000-114737800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:114734000-114738000	Enhancers	Pancreas	Pancrea
48	chr2:114734000-114746000	Weak transcription	Aorta	Aorta
49	chr2:114734000-114751800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:114734200-114736200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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