Variant report

Variant	rs980027
Chromosome Location	chr6:72117129-72117130
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	POLR2A	chr6:72115752-72117591	Hela-S3	cervix:	n/a	n/a
2	TFAP2A	chr6:72117102-72117583	Hela-S3	cervix:	n/a	chr6:72117349-72117364 chr6:72117296-72117311
3	FOSL2	chr6:72116988-72117586	A549	lung:	n/a	n/a
4	TEAD4	chr6:72117098-72117531	H1-hESC	embryonic stem cell:	n/a	n/a
5	SP1	chr6:72116921-72117621	A549	lung:	n/a	n/a
6	POLR2A	chr6:72116982-72117577	Hela-S3	cervix:	n/a	n/a
7	NR3C1	chr6:72117053-72117452	A549	lung:	n/a	n/a
8	SP1	chr6:72116992-72117514	A549	lung:	n/a	n/a
9	JUND	chr6:72117097-72117485	A549	lung:	n/a	n/a
10	EP300	chr6:72116541-72117512	Hela-S3	cervix:	n/a	n/a
11	TCF7L2	chr6:72116693-72117622	Hela-S3	cervix:	n/a	chr6:72117602-72117611 chr6:72117601-72117611 chr6:72117600-72117614 chr6:72117599-72117615 chr6:72117599-72117615
12	GATA3	chr6:72116436-72117380	SK-N-SH	brain:	n/a	n/a
13	MAX	chr6:72116621-72117550	Hela-S3	cervix:	n/a	n/a
14	MAX	chr6:72117109-72117652	A549	lung:	n/a	n/a
15	POLR2A	chr6:72117010-72117409	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr6:72116599-72117617	PANC-1	pancreas:	n/a	n/a
17	GATA3	chr6:72116440-72117349	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr6:72116926-72117472	Hela-S3	cervix:	n/a	n/a
19	MAX	chr6:72116965-72117652	A549	lung:	n/a	n/a
20	ZNF263	chr6:72116770-72117655	HEK293-T-REx	kidney:	n/a	chr6:72117417-72117426 chr6:72117233-72117242
21	EP300	chr6:72116904-72117701	A549	lung:	n/a	n/a
22	EP300	chr6:72117013-72117656	A549	lung:	n/a	n/a
23	POLR2A	chr6:72116967-72117528	PANC-1	pancreas:	n/a	n/a
24	GATA3	chr6:72117063-72117595	A549	lung:	n/a	n/a
25	TCF12	chr6:72116956-72117644	A549	lung:	n/a	n/a
26	GATA2	chr6:72116433-72117327	HUVEC	blood vessel:	n/a	n/a
27	TFAP2C	chr6:72117091-72117587	Hela-S3	cervix:	n/a	n/a
28	GATA3	chr6:72116379-72117718	A549	lung:	n/a	n/a

Variant related genes	Relation type
MIR30A	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10214508	0.92[EUR][1000 genomes]
rs10485017	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13197578	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13202330	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13203324	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1358379	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1405847	0.88[MKK][hapmap]
rs1405849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1527708	0.89[EUR][1000 genomes]
rs1527709	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1527710	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1527711	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1527713	0.92[EUR][1000 genomes]
rs16881130	1.00[MEX][hapmap]
rs16881149	1.00[CEU][hapmap]
rs16881181	1.00[CEU][hapmap]
rs16881235	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16881296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1852579	0.92[EUR][1000 genomes]
rs1881033	0.89[EUR][1000 genomes]
rs2146370	1.00[CEU][hapmap]
rs35217364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35663023	0.85[EUR][1000 genomes]
rs35995963	0.96[EUR][1000 genomes]
rs6918170	0.92[EUR][1000 genomes]
rs71555485	0.85[EUR][1000 genomes]
rs765466	0.84[ASW][hapmap];1.00[MKK][hapmap]
rs7739908	1.00[MEX][hapmap]
rs7765945	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9455448	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs9455449	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs9455454	0.92[EUR][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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72098400-72117200	Weak transcription	Pancreas	Pancrea
2	chr6:72104000-72122000	Weak transcription	Fetal Stomach	stomach
3	chr6:72105600-72117200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:72106000-72119600	Weak transcription	Lung	lung
5	chr6:72106000-72124800	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:72106400-72126800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:72106400-72128600	Weak transcription	Fetal Brain Male	brain
8	chr6:72106600-72117200	Weak transcription	Gastric	stomach
9	chr6:72106600-72122000	Weak transcription	Brain Substantia Nigra	brain
10	chr6:72106800-72119400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:72106800-72122000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:72106800-72128600	Weak transcription	Fetal Brain Female	brain
13	chr6:72106800-72128800	Weak transcription	Brain Germinal Matrix	brain
14	chr6:72107800-72118400	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:72107800-72125000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr6:72112000-72117200	Weak transcription	Left Ventricle	heart
17	chr6:72112000-72117600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr6:72112800-72118200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr6:72113000-72117400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:72113400-72117200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr6:72114000-72119400	Weak transcription	Right Ventricle	heart
22	chr6:72114000-72124800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:72114200-72120600	Weak transcription	Aorta	Aorta
24	chr6:72114200-72122200	Weak transcription	Right Atrium	heart
25	chr6:72114200-72125000	Weak transcription	Brain Angular Gyrus	brain
26	chr6:72114400-72118200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr6:72114600-72118600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:72114600-72121600	Weak transcription	Colon Smooth Muscle	Colon
29	chr6:72114600-72121800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr6:72114800-72117600	Enhancers	NH-A	brain
31	chr6:72114800-72118600	Weak transcription	Brain Anterior Caudate	brain
32	chr6:72114800-72118600	Weak transcription	Small Intestine	intestine
33	chr6:72114800-72119400	Weak transcription	Fetal Intestine Small	intestine
34	chr6:72114800-72121800	Weak transcription	Ovary	ovary
35	chr6:72115000-72117600	Genic enhancers	HSMM	muscle
36	chr6:72115000-72119600	Weak transcription	Adipose Nuclei	Adipose
37	chr6:72115200-72118600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr6:72115200-72119600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:72115200-72121800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:72115400-72117200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:72115400-72117200	Strong transcription	Placenta	Placenta
42	chr6:72115400-72117200	Genic enhancers	Hela-S3	cervix
43	chr6:72115400-72118800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:72115400-72121800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:72115400-72121800	Weak transcription	Fetal Heart	heart
46	chr6:72115400-72125200	Weak transcription	Fetal Intestine Large	intestine
47	chr6:72115600-72117200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr6:72115600-72117200	Weak transcription	NHLF	lung
49	chr6:72115600-72117400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr6:72115600-72121400	Weak transcription	Liver	Liver

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