Variant report

Variant	rs2222722
Chromosome Location	chr6:72113712-72113713
allele	C/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	SP1	chr6:72113598-72115141	A549	lung:	n/a	n/a
2	E2F4	chr6:72113568-72114173	MCF10A-Er-Src	breast:	n/a	chr6:72114037-72114046
3	KAP1	chr6:72113042-72115941	HEK293	kidney:	n/a	n/a
4	GATA3	chr6:72113602-72114899	SK-N-SH	brain:	n/a	chr6:72113883-72113890
5	RCOR1	chr6:72113533-72115022	Hela-S3	cervix:	n/a	n/a
6	TBP	chr6:72113143-72114767	Hela-S3	cervix:	n/a	chr6:72113828-72113839
7	PBX3	chr6:72113692-72114974	SK-N-SH	brain:	n/a	n/a
8	MAFK	chr6:72113245-72115510	Hela-S3	cervix:	n/a	chr6:72115311-72115322 chr6:72115306-72115321 chr6:72114402-72114411 chr6:72114976-72114987
9	CEBPB	chr6:72113466-72114723	A549	lung:	n/a	chr6:72114236-72114247
10	EP300	chr6:72113572-72115320	A549	lung:	n/a	chr6:72114911-72114921 chr6:72113923-72113937 chr6:72113918-72113932
11	EP300	chr6:72113674-72115091	A549	lung:	n/a	chr6:72114911-72114921 chr6:72113923-72113937 chr6:72113918-72113932
12	MYC	chr6:72113363-72113720	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr6:72113512-72113975	MCF10A-Er-Src	breast:	n/a	n/a
14	TCF7L2	chr6:72112749-72114958	HEK293	kidney:	n/a	n/a
15	FOS	chr6:72113483-72114791	MCF10A-Er-Src	breast:	n/a	chr6:72114399-72114411 chr6:72114607-72114618 chr6:72114009-72114017
16	POLR2A	chr6:72113658-72114209	HUVEC	blood vessel:	n/a	n/a
17	STAT3	chr6:72113429-72114699	MCF10A-Er-Src	breast:	n/a	n/a
18	CEBPB	chr6:72113233-72115494	Hela-S3	cervix:	n/a	chr6:72114236-72114247
19	EP300	chr6:72113281-72114890	Hela-S3	cervix:	n/a	chr6:72113923-72113937 chr6:72113918-72113932
20	POLR2A	chr6:72113605-72114218	MCF10A-Er-Src	breast:	n/a	n/a
21	RFX5	chr6:72113505-72114915	Hela-S3	cervix:	n/a	n/a
22	TCF12	chr6:72113504-72114902	SK-N-SH	brain:	n/a	chr6:72114307-72114316
23	PRDM1	chr6:72113476-72114751	Hela-S3	cervix:	n/a	n/a
24	TCF7L2	chr6:72112931-72114961	PANC-1	pancreas:	n/a	n/a
25	STAT3	chr6:72113209-72114760	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr6:72113363-72115154	Hela-S3	cervix:	n/a	n/a
27	JUN	chr6:72113606-72114868	Hela-S3	cervix:	n/a	chr6:72114399-72114411 chr6:72114607-72114618 chr6:72114009-72114017
28	FOXM1	chr6:72113681-72115041	ECC-1	luminal epithelium:	n/a	n/a
29	REST	chr6:72113546-72115030	A549	lung:	n/a	n/a
30	POLR2A	chr6:72113536-72114812	Hela-S3	cervix:	n/a	n/a
31	FOS	chr6:72113429-72114793	MCF10A-Er-Src	breast:	n/a	chr6:72114399-72114411 chr6:72114607-72114618 chr6:72114009-72114017
32	TAF1	chr6:72113697-72114206	Hela-S3	cervix:	n/a	n/a
33	TCF7L2	chr6:72113196-72115085	Hela-S3	cervix:	n/a	n/a
34	KAP1	chr6:72113079-72114739	U2OS	brain:	n/a	n/a
35	POLR2A	chr6:72113680-72114139	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr6:72113371-72115037	A549	lung:	n/a	chr6:72114236-72114247
37	TCF12	chr6:72112949-72115149	A549	lung:	n/a	chr6:72113200-72113209 chr6:72114912-72114921 chr6:72114307-72114316
38	SP1	chr6:72113687-72115016	A549	lung:	n/a	n/a
39	FOS	chr6:72113479-72114138	MCF10A-Er-Src	breast:	n/a	chr6:72114009-72114017
40	MAFK	chr6:72113699-72114690	IMR90	lung:	n/a	chr6:72114402-72114411
41	RAD21	chr6:72113650-72114748	Hela-S3	cervix:	n/a	n/a
42	GATA3	chr6:72113584-72115374	A549	lung:	n/a	chr6:72113883-72113890
43	GATA3	chr6:72113618-72114885	SK-N-SH	brain:	n/a	chr6:72113883-72113890

Variant related genes	Relation type
MIR30A	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12192535	0.88[ASN][1000 genomes]
rs12214632	0.88[ASN][1000 genomes]
rs1405848	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1852578	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1918478	0.89[ASN][1000 genomes]
rs34602770	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4291065	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6455418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6902769	0.98[ASN][1000 genomes]
rs6903167	0.95[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7349905	0.89[ASN][1000 genomes]
rs763354	0.87[CHB][hapmap];0.89[ASN][1000 genomes]
rs9283840	0.80[AMR][1000 genomes]
rs9283841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9342836	0.87[CHB][hapmap];0.89[ASN][1000 genomes]
rs9351810	0.88[ASN][1000 genomes]
rs9351811	0.90[ASN][1000 genomes]
rs9355001	0.95[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9364165	0.88[ASN][1000 genomes]
rs9364166	0.87[ASN][1000 genomes]
rs9364167	0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830684	chr6:72094842-72282684	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	488 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72098400-72117200	Weak transcription	Pancreas	Pancrea
2	chr6:72099600-72114400	Weak transcription	Fetal Intestine Large	intestine
3	chr6:72103400-72114400	Weak transcription	Small Intestine	intestine
4	chr6:72104000-72122000	Weak transcription	Fetal Stomach	stomach
5	chr6:72105600-72117200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:72106000-72119600	Weak transcription	Lung	lung
7	chr6:72106000-72124800	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:72106200-72113800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:72106400-72126800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:72106400-72128600	Weak transcription	Fetal Brain Male	brain
11	chr6:72106600-72117200	Weak transcription	Gastric	stomach
12	chr6:72106600-72122000	Weak transcription	Brain Substantia Nigra	brain
13	chr6:72106800-72117000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:72106800-72119400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:72106800-72122000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:72106800-72128600	Weak transcription	Fetal Brain Female	brain
17	chr6:72106800-72128800	Weak transcription	Brain Germinal Matrix	brain
18	chr6:72107200-72113800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr6:72107800-72114400	Weak transcription	Placenta	Placenta
20	chr6:72107800-72118400	Weak transcription	Brain Hippocampus Middle	brain
21	chr6:72107800-72125000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr6:72110800-72113800	Weak transcription	Brain Angular Gyrus	brain
23	chr6:72111800-72114000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:72111800-72114000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr6:72111800-72114400	Flanking Active TSS	HUVEC	blood vessel
26	chr6:72111800-72116000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:72112000-72113800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr6:72112000-72115800	Enhancers	NHDF-Ad	bronchial
29	chr6:72112000-72117200	Weak transcription	Left Ventricle	heart
30	chr6:72112000-72117600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr6:72112200-72115000	Active TSS	A549	lung
32	chr6:72112400-72115400	Enhancers	Fetal Heart	heart
33	chr6:72112600-72114000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:72112600-72114200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr6:72112600-72115400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:72112800-72114600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr6:72112800-72114600	Enhancers	Rectal Smooth Muscle	rectum
38	chr6:72112800-72114800	Enhancers	HepG2	liver
39	chr6:72112800-72116000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:72112800-72116200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:72112800-72118200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr6:72113000-72113800	Enhancers	Adipose Nuclei	Adipose
43	chr6:72113000-72114000	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr6:72113000-72114400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:72113000-72114400	Flanking Active TSS	HMEC	breast
46	chr6:72113000-72114600	Flanking Active TSS	Osteobl	bone
47	chr6:72113000-72115200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:72113000-72115400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:72113000-72115600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:72113000-72115600	Enhancers	Liver	Liver

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