Variant report

Variant	rs1342330
Chromosome Location	chr6:144065685-144065686
allele	A/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	FOSL2	chr6:144065570-144067163	HepG2	liver:	n/a	chr6:144065839-144065848 chr6:144066135-144066142 chr6:144065864-144065872 chr6:144066865-144066874 chr6:144066134-144066143 chr6:144066134-144066142
2	POLR2A	chr6:144065560-144069107	HepG2	liver:	n/a	n/a
3	MYBL2	chr6:144065411-144067275	HepG2	liver:	n/a	n/a
4	KAP1	chr6:144064616-144067815	HEK293	kidney:	n/a	chr6:144066135-144066144
5	MAX	chr6:144065319-144066104	ECC-1	luminal epithelium:	n/a	chr6:144065831-144065842 chr6:144065833-144065840 chr6:144065832-144065841
6	HNF4G	chr6:144065479-144065883	HepG2	liver:	n/a	chr6:144065687-144065702
7	POLR2A	chr6:144065680-144067256	PANC-1	pancreas:	n/a	n/a
8	TCF7L2	chr6:144065589-144067524	HEK293	kidney:	n/a	chr6:144066134-144066143
9	EP300	chr6:144065464-144068008	HepG2	liver:	n/a	chr6:144066048-144066062 chr6:144066134-144066143 chr6:144066133-144066142
10	TCF7L2	chr6:144065650-144067854	PANC-1	pancreas:	n/a	chr6:144066134-144066143

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144060296..144062270-chr6:144062738..144065749,3	MCF-7	breast:
2	chr6:144064761..144067514-chr6:144068407..144072596,5	MCF-7	breast:

Variant related genes	Relation type
PHACTR2	TF binding region
ENSG00000112419	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10484829	0.87[JPT][hapmap]
rs12207527	0.84[JPT][hapmap]
rs12208670	0.81[AMR][1000 genomes]
rs12212893	0.86[EUR][1000 genomes]
rs2064528	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2066366	0.88[EUR][1000 genomes]
rs2180032	0.88[EUR][1000 genomes]
rs2235995	0.84[JPT][hapmap]
rs3818113	0.83[JPT][hapmap]
rs55767626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6570580	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9321941	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9403528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv2758084	chr6:143916621-144079976	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759476	chr6:143916621-144079976	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144038600-144075400	Weak transcription	NHEK	skin
2	chr6:144046200-144074600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr6:144053400-144076600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:144053600-144073600	Weak transcription	Osteobl	bone
5	chr6:144053600-144075400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr6:144053600-144075600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:144053800-144079800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr6:144056000-144067600	Weak transcription	K562	blood
9	chr6:144056200-144080200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:144059800-144077000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:144060000-144066400	Weak transcription	Fetal Brain Female	brain
12	chr6:144060200-144078400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:144060600-144074600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr6:144060800-144074400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:144061000-144079800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr6:144061000-144086600	Weak transcription	Primary T cells from cord blood	blood
17	chr6:144062800-144066400	Enhancers	Stomach Mucosa	stomach
18	chr6:144063000-144075400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:144063200-144066200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr6:144063400-144066400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr6:144063400-144066400	Enhancers	Fetal Stomach	stomach
22	chr6:144063400-144066600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr6:144063400-144066800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:144063400-144067200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr6:144063400-144067800	Enhancers	Lung	lung
26	chr6:144063400-144068000	Enhancers	Psoas Muscle	Psoas
27	chr6:144063400-144069000	Enhancers	Left Ventricle	heart
28	chr6:144063400-144069200	Enhancers	Fetal Heart	heart
29	chr6:144063400-144070600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr6:144063400-144071400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:144063600-144065800	Enhancers	A549	lung
32	chr6:144063600-144066200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr6:144063600-144066200	Enhancers	Pancreas	Pancrea
34	chr6:144063600-144066400	Enhancers	Small Intestine	intestine
35	chr6:144063600-144066600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:144063600-144066800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:144063600-144067400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr6:144063600-144068800	Enhancers	Right Ventricle	heart
39	chr6:144063600-144069000	Enhancers	Placenta Amnion	Placenta Amnion
40	chr6:144063600-144076600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:144063800-144066200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr6:144063800-144066200	Enhancers	Fetal Intestine Small	intestine
43	chr6:144063800-144066400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr6:144063800-144066600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr6:144063800-144068000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr6:144063800-144075000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:144063800-144086400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:144064000-144066400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr6:144064000-144066400	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr6:144064000-144067200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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