Variant report

Variant	rs1358379
Chromosome Location	chr6:72113442-72113443
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	KAP1	chr6:72113042-72115941	HEK293	kidney:	n/a	n/a
2	POLR2A	chr6:72112976-72113505	Hela-S3	cervix:	n/a	n/a
3	TBP	chr6:72113143-72114767	Hela-S3	cervix:	n/a	chr6:72113828-72113839
4	MAFK	chr6:72113245-72115510	Hela-S3	cervix:	n/a	chr6:72115311-72115322 chr6:72115306-72115321 chr6:72114402-72114411 chr6:72114976-72114987
5	FOXA2	chr6:72113126-72113462	A549	lung:	n/a	n/a
6	MYC	chr6:72113363-72113720	MCF10A-Er-Src	breast:	n/a	n/a
7	TCF7L2	chr6:72112749-72114958	HEK293	kidney:	n/a	n/a
8	STAT3	chr6:72113429-72114699	MCF10A-Er-Src	breast:	n/a	n/a
9	CEBPB	chr6:72113233-72115494	Hela-S3	cervix:	n/a	chr6:72114236-72114247
10	EP300	chr6:72113281-72114890	Hela-S3	cervix:	n/a	chr6:72113923-72113937 chr6:72113918-72113932
11	FOXA1	chr6:72113149-72113470	T-47D	breast:	n/a	chr6:72113325-72113340 chr6:72113307-72113322
12	TCF7L2	chr6:72112931-72114961	PANC-1	pancreas:	n/a	n/a
13	STAT3	chr6:72113209-72114760	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr6:72113363-72115154	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr6:72113152-72113482	Hela-S3	cervix:	n/a	n/a
16	FOS	chr6:72113429-72114793	MCF10A-Er-Src	breast:	n/a	chr6:72114399-72114411 chr6:72114607-72114618 chr6:72114009-72114017
17	TCF7L2	chr6:72113196-72115085	Hela-S3	cervix:	n/a	n/a
18	KAP1	chr6:72113079-72114739	U2OS	brain:	n/a	n/a
19	CEBPB	chr6:72113371-72115037	A549	lung:	n/a	chr6:72114236-72114247
20	TCF12	chr6:72112949-72115149	A549	lung:	n/a	chr6:72113200-72113209 chr6:72114912-72114921 chr6:72114307-72114316
21	FOXA1	chr6:72113198-72113445	T-47D	breast:	n/a	chr6:72113325-72113340 chr6:72113307-72113322
22	FOXA2	chr6:72113034-72113577	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:72113416-72113466	SKMC	muscle:	n/a
2	chr6:72113416-72113466	SK-N-SH_RA	brain:	n/a
3	chr6:72113416-72113466	HIPEpiC	eye:	n/a
4	chr6:72113416-72113466	HL-60	blood:	n/a
5	chr6:72113416-72113466	AoSMC	blood vessel:	n/a
6	chr6:72113416-72113466	A549	lung:	n/a
7	chr6:72113416-72113466	HEK293	kidney:	embryo
8	chr6:72113416-72113466	NHBE	bronchial:	n/a
9	chr6:72113416-72113466	GM19239	blood:	n/a
10	chr6:72113416-72113466	LNCaP	prostate:	n/a
11	chr6:72113416-72113466	HPAEpiC	pulmonary alveolar:	n/a
12	chr6:72113416-72113466	Caco-2	colon:	n/a
13	chr6:72113416-72113466	HRPEpiC	eye:	n/a
14	chr6:72113416-72113466	HCT-116	colon:	n/a
15	chr6:72113416-72113466	AG09309	skin:	n/a
16	chr6:72113416-72113466	AG04449	skin:	fetal
17	chr6:72113416-72113466	GM12878	blood:	n/a
18	chr6:72113416-72113466	HEEpiC	esophagus:	n/a
19	chr6:72113416-72113466	CMK	blood:	n/a
20	chr6:72113416-72113466	K562	blood:	n/a
21	chr6:72113416-72113466	HRCEpiC	kidney:	n/a
22	chr6:72113416-72113466	MCF10A-Er-Src	breast:	n/a
23	chr6:72113416-72113466	NB4	blood:	n/a
24	chr6:72113416-72113466	IMR90	lung:	fetal
25	chr6:72113416-72113466	HCM	heart:	n/a
26	chr6:72113416-72113466	U87	brain:	n/a
27	chr6:72113416-72113466	H1-hESC	embryonic stem cell:	embryo
28	chr6:72113416-72113466	PANC-1	pancreas:	n/a
29	chr6:72113416-72113466	GM12891	blood:	n/a
30	chr6:72113416-72113466	T-47D	breast:	n/a
31	chr6:72113416-72113466	HUVEC	blood vessel:	n/a
32	chr6:72113416-72113466	Hepatocyte	liver:	n/a
33	chr6:72113416-72113466	PFSK-1	brain:	n/a
34	chr6:72113416-72113466	Jurkat	blood:	n/a
35	chr6:72113416-72113466	HCPEpiC	choroid plexus:	n/a
36	chr6:72113416-72113466	BJ	skin:	n/a
37	chr6:72113416-72113466	NHDF-neo	bronchial:	n/a
38	chr6:72113416-72113466	PrEC	prostate:	n/a
39	chr6:72113416-72113466	HepG2	liver:	n/a
40	chr6:72113416-72113466	SK-N-SH	brain:	n/a
41	chr6:72113416-72113466	AG09319	gingival:	n/a
42	chr6:72113416-72113466	HRE	kidney:	n/a
43	chr6:72113416-72113466	AG04450	lung:	fetal
44	chr6:72113416-72113466	BE2_C	brain:	n/a
45	chr6:72113416-72113466	NT2-D1	testis:	n/a
46	chr6:72113416-72113466	NH-A	brain:	n/a
47	chr6:72113416-72113466	MCF-7	breast:	n/a
48	chr6:72113416-72113466	HAEpiC	amniotic membrane:	n/a
49	chr6:72113416-72113466	ovcar-3	ovarian:	n/a
50	chr6:72113416-72113466	ProgFib	skin:	n/a

Variant related genes	Relation type
MIR30A	TF binding region
MIR30A	CpG island

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10214508	0.92[EUR][1000 genomes]
rs10485017	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];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	0.85[EUR][1000 genomes]
rs1405847	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1405849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1527708	0.89[EUR][1000 genomes]
rs1527709	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1527710	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1527711	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1527713	0.92[EUR][1000 genomes]
rs16881149	1.00[CEU][hapmap]
rs16881181	1.00[CEU][hapmap]
rs16881235	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16881296	0.96[AFR][1000 genomes];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[AFR][1000 genomes];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	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs7765945	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9455448	1.00[CEU][hapmap]
rs9455449	1.00[CEU][hapmap]
rs9455454	0.92[EUR][1000 genomes]
rs980027	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[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: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	chr6:72106800-72113600	Weak transcription	Aorta	Aorta
14	chr6:72106800-72117000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:72106800-72119400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:72106800-72122000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:72106800-72128600	Weak transcription	Fetal Brain Female	brain
18	chr6:72106800-72128800	Weak transcription	Brain Germinal Matrix	brain
19	chr6:72107200-72113800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr6:72107800-72114400	Weak transcription	Placenta	Placenta
21	chr6:72107800-72118400	Weak transcription	Brain Hippocampus Middle	brain
22	chr6:72107800-72125000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr6:72110800-72113800	Weak transcription	Brain Angular Gyrus	brain
24	chr6:72111800-72114000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:72111800-72114000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr6:72111800-72114400	Flanking Active TSS	HUVEC	blood vessel
27	chr6:72111800-72116000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr6:72112000-72113800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr6:72112000-72115800	Enhancers	NHDF-Ad	bronchial
30	chr6:72112000-72117200	Weak transcription	Left Ventricle	heart
31	chr6:72112000-72117600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr6:72112200-72115000	Active TSS	A549	lung
33	chr6:72112400-72115400	Enhancers	Fetal Heart	heart
34	chr6:72112600-72114000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:72112600-72114200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr6:72112600-72115400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:72112800-72114600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr6:72112800-72114600	Enhancers	Rectal Smooth Muscle	rectum
39	chr6:72112800-72114800	Enhancers	HepG2	liver
40	chr6:72112800-72116000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:72112800-72116200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:72112800-72118200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr6:72113000-72113600	Flanking Active TSS	HSMMtube	muscle
44	chr6:72113000-72113600	Flanking Active TSS	NHLF	lung
45	chr6:72113000-72113800	Enhancers	Adipose Nuclei	Adipose
46	chr6:72113000-72114000	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr6:72113000-72114400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:72113000-72114400	Flanking Active TSS	HMEC	breast
49	chr6:72113000-72114600	Flanking Active TSS	Osteobl	bone
50	chr6:72113000-72115200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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