Variant report

Variant	rs72867279
Chromosome Location	chr6:44039396-44039397
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr6:44039396-44039945	HUVEC	blood vessel:	n/a	chr6:44039641-44039652 chr6:44039869-44039883
2	GATA3	chr6:44039094-44040191	SK-N-SH	brain:	n/a	n/a
3	JUND	chr6:44039279-44040039	SK-N-SH	brain:	n/a	chr6:44039869-44039883
4	EP300	chr6:44039295-44040018	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr6:44039235-44042834	U87	brain:	n/a	n/a
6	TCF12	chr6:44039264-44040041	SK-N-SH	brain:	n/a	n/a
7	NFIC	chr6:44039334-44039888	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr6:44039247-44040081	SK-N-SH	brain:	n/a	n/a
9	JUN	chr6:44039385-44039819	K562	blood:	n/a	n/a
10	PBX3	chr6:44039234-44040047	SK-N-SH	brain:	n/a	n/a
11	MAFK	chr6:44039270-44039829	K562	blood:	n/a	n/a
12	FOSL2	chr6:44039280-44040023	SK-N-SH	brain:	n/a	chr6:44039869-44039883
13	POLR2A	chr6:44039391-44041221	U87	brain:	n/a	n/a
14	POLR2A	chr6:44039357-44039970	SK-N-SH	brain:	n/a	n/a
15	MAZ	chr6:44038899-44043651	IMR90	lung:	n/a	chr6:44040351-44040361 chr6:44042834-44042843 chr6:44039897-44039906
16	TEAD4	chr6:44039396-44039852	K562	blood:	n/a	n/a
17	TCF12	chr6:44039118-44040121	SK-N-SH	brain:	n/a	n/a
18	GATA2	chr6:44039214-44039955	HUVEC	blood vessel:	n/a	n/a
19	NFIC	chr6:44039049-44040101	SK-N-SH	brain:	n/a	n/a
20	PBX3	chr6:44039337-44039940	SK-N-SH	brain:	n/a	n/a
21	RAD21	chr6:44039348-44040107	IMR90	lung:	n/a	n/a
22	POLR2A	chr6:44038968-44042687	IMR90	lung:	n/a	n/a
23	POLR2A	chr6:44039241-44042808	U87	brain:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44031220..44034616-chr6:44038681..44041085,3	MCF-7	breast:
2	chr6:43736197..43742093-chr6:44038080..44048969,27	MCF-7	breast:
3	chr6:43736340..43742918-chr6:44039360..44044949,13	MCF-7	breast:
4	chr6:43596390..43598927-chr6:44037682..44039839,2	K562	blood:
5	chr6:43943185..43945060-chr6:44037055..44039545,2	K562	blood:
6	chr6:44014673..44017643-chr6:44037999..44040653,2	MCF-7	breast:
7	chr6:43961901..43965076-chr6:44038380..44041329,3	MCF-7	breast:
8	chr6:44039377..44041251-chr6:44214380..44216873,3	MCF-7	breast:
9	chr6:44026622..44029059-chr6:44038076..44041600,3	MCF-7	breast:
10	chr6:43730164..43744120-chr6:44034600..44052665,50	K562	blood:
11	chr6:44018576..44021363-chr6:44038468..44040564,3	MCF-7	breast:
12	chr6:44021804..44024642-chr6:44039251..44041527,2	MCF-7	breast:
13	chr6:43736441..43745894-chr6:44037513..44049664,39	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPL14-4	chr6:44036825-44041054	NONHSAT112941

No data

Variant related genes	Relation type
ENSG00000231881	TF binding region
ENSG00000172432	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000124688	Chromatin interaction
ENSG00000272114	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs34978340	0.96[ASN][1000 genomes]
rs72867268	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72867275	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72867277	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72867290	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44022400-44040400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:44030000-44040800	Weak transcription	Gastric	stomach
3	chr6:44030200-44040400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:44031200-44040600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:44033200-44040000	Enhancers	K562	blood
6	chr6:44033200-44040400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:44033400-44039400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:44033400-44040200	Weak transcription	Colonic Mucosa	Colon
9	chr6:44033600-44039400	Weak transcription	Fetal Heart	heart
10	chr6:44033800-44040200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:44034000-44040000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:44034000-44040200	Weak transcription	Lung	lung
13	chr6:44034600-44040400	Weak transcription	Spleen	Spleen
14	chr6:44035200-44040000	Weak transcription	Fetal Intestine Small	intestine
15	chr6:44035400-44039400	Weak transcription	NHEK	skin
16	chr6:44035400-44040400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr6:44035600-44039600	Weak transcription	HSMMtube	muscle
18	chr6:44035600-44040200	Weak transcription	Pancreas	Pancrea
19	chr6:44035600-44040400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr6:44035800-44039400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:44035800-44040000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:44035800-44040400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr6:44036000-44039800	Weak transcription	GM12878-XiMat	blood
24	chr6:44036000-44040200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:44036000-44040200	Weak transcription	Right Ventricle	heart
26	chr6:44036600-44040000	Weak transcription	Fetal Stomach	stomach
27	chr6:44036600-44040000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr6:44036600-44040200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:44036600-44040200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:44036600-44040200	Weak transcription	Esophagus	oesophagus
31	chr6:44036600-44040200	Weak transcription	Placenta	Placenta
32	chr6:44036600-44040400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:44036600-44040400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:44036800-44040000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:44036800-44040000	Weak transcription	Fetal Muscle Leg	muscle
36	chr6:44036800-44040200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr6:44036800-44040400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr6:44036800-44040400	Weak transcription	A549	lung
39	chr6:44037000-44040200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:44037000-44040200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:44037200-44040400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr6:44037200-44040400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr6:44037200-44040400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr6:44037800-44040800	Weak transcription	Aorta	Aorta
45	chr6:44038200-44039400	Weak transcription	HepG2	liver
46	chr6:44038200-44039800	Weak transcription	Hela-S3	cervix
47	chr6:44038200-44040000	Weak transcription	Stomach Mucosa	stomach
48	chr6:44038200-44040400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:44038200-44040600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:44038400-44040200	Weak transcription	Fetal Muscle Trunk	muscle

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