Variant report

Variant	rs4233930
Chromosome Location	chr2:64077305-64077306
allele	C/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	POLR2A	chr2:64066467-64077414	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr2:64076244-64077370	H1-hESC	embryonic stem cell:	n/a	n/a
3	NANOG	chr2:64077057-64077306	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD1	chr2:64075774-64077625	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAFK	chr2:64076612-64077660	H1-hESC	embryonic stem cell:	n/a	chr2:64077484-64077500 chr2:64077481-64077496 chr2:64077482-64077502 chr2:64077486-64077496
6	MAFK	chr2:64076927-64077633	HepG2	liver:	n/a	chr2:64077484-64077500 chr2:64077481-64077496 chr2:64077482-64077502 chr2:64077486-64077496
7	MAFK	chr2:64076863-64077668	IMR90	lung:	n/a	chr2:64077484-64077500 chr2:64077481-64077496 chr2:64077482-64077502 chr2:64077486-64077496

No.	Distal block	Cell Line	Cell type
1	chr2:64066479..64069596-chr2:64075482..64078663,3	MCF-7	breast:
2	chr2:64076905..64078833-chr2:64080637..64082778,2	K562	blood:
3	chr2:63917240..63919967-chr2:64076966..64079284,2	MCF-7	breast:
4	chr2:64065293..64070615-chr2:64075268..64080842,9	MCF-7	breast:

Variant related genes	Relation type
UGP2	TF binding region
ENSG00000169764	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10183479	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11558741	0.91[ASN][1000 genomes]
rs11674020	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11676710	0.83[ASN][1000 genomes]
rs11683408	0.83[ASN][1000 genomes]
rs11691987	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11693906	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11695421	0.83[ASN][1000 genomes]
rs11883518	0.84[ASN][1000 genomes]
rs12713498	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12996866	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13018690	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13431781	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1440002	0.83[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17562177	0.93[ASN][1000 genomes]
rs17562423	0.82[ASN][1000 genomes]
rs17619753	0.88[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs193031	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2302808	0.93[ASN][1000 genomes]
rs2969395	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs329478	0.83[ASN][1000 genomes]
rs329488	0.86[ASN][1000 genomes]
rs34122334	0.91[ASN][1000 genomes]
rs34765999	0.83[ASN][1000 genomes]
rs34777730	0.81[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs35002211	0.93[ASN][1000 genomes]
rs35480874	0.83[ASN][1000 genomes]
rs35697586	0.83[ASN][1000 genomes]
rs36033991	0.93[ASN][1000 genomes]
rs36123537	0.85[ASN][1000 genomes]
rs4538187	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4671071	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4671073	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs56904032	0.83[ASN][1000 genomes]
rs6546029	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6546030	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6546032	0.81[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6546033	0.89[ASN][1000 genomes]
rs6546035	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs66980330	0.91[ASN][1000 genomes]
rs6710763	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs6715992	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67308158	0.91[ASN][1000 genomes]
rs6731508	0.91[ASN][1000 genomes]
rs6732746	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6755646	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67615384	0.91[ASN][1000 genomes]
rs67765474	0.93[ASN][1000 genomes]
rs68117986	0.83[ASN][1000 genomes]
rs72808243	0.91[ASN][1000 genomes]
rs72893103	0.83[ASN][1000 genomes]
rs7590399	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.91[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	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2470969	chr2:64077035-64078477	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64070000-64082800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:64070200-64084600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:64070200-64103000	Weak transcription	Gastric	stomach
4	chr2:64070600-64082800	Weak transcription	Fetal Stomach	stomach
5	chr2:64070600-64083800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:64070800-64082600	Weak transcription	HUVEC	blood vessel
7	chr2:64071200-64080600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:64071800-64080200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr2:64071800-64080600	Weak transcription	Pancreas	Pancrea
10	chr2:64072000-64080600	Weak transcription	Lung	lung
11	chr2:64072000-64081200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:64072000-64082800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:64072000-64082800	Weak transcription	Placenta	Placenta
14	chr2:64072000-64084200	Weak transcription	Esophagus	oesophagus
15	chr2:64072200-64079600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:64072600-64084600	Weak transcription	Hela-S3	cervix
17	chr2:64073000-64081800	Weak transcription	Colonic Mucosa	Colon
18	chr2:64073000-64083200	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:64073200-64078400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr2:64073400-64078600	Weak transcription	Primary B cells from cord blood	blood
21	chr2:64073400-64079000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:64073400-64080600	Weak transcription	Spleen	Spleen
23	chr2:64074000-64079200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:64074000-64079600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:64074600-64082000	Enhancers	Fetal Heart	heart
26	chr2:64075200-64077800	Active TSS	H1 Cell Line	embryonic stem cell
27	chr2:64075200-64083000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:64075600-64077400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:64075600-64077800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr2:64075600-64078400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:64075800-64078000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr2:64075800-64078200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr2:64075800-64078600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr2:64075800-64078800	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr2:64075800-64080600	Weak transcription	Left Ventricle	heart
36	chr2:64075800-64081400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:64075800-64081800	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr2:64076000-64077400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr2:64076000-64077400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:64076000-64077400	Flanking Active TSS	Liver	Liver
41	chr2:64076000-64077400	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr2:64076000-64077400	Enhancers	Fetal Kidney	kidney
43	chr2:64076000-64077600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:64076000-64077600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:64076000-64077600	Enhancers	NH-A	brain
46	chr2:64076000-64078000	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr2:64076000-64078000	Enhancers	HSMM	muscle
48	chr2:64076000-64078000	Enhancers	NHEK	skin
49	chr2:64076000-64078800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr2:64076000-64081200	Weak transcription	Primary T cells fromperipheralblood	blood

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