Variant report

Variant	rs6864618
Chromosome Location	chr5:119741331-119741332
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	STAT3	chr5:119740986-119741893	MCF10A-Er-Src	breast:	n/a	chr5:119741166-119741175 chr5:119741165-119741174
2	FOSL1	chr5:119740896-119741388	HCT-116	colon:	n/a	chr5:119741167-119741174 chr5:119741165-119741174 chr5:119741166-119741174 chr5:119741164-119741176
3	FOSL2	chr5:119740963-119741967	SK-N-SH	brain:	n/a	chr5:119741167-119741174 chr5:119741165-119741174 chr5:119741166-119741174 chr5:119741164-119741176
4	MEF2A	chr5:119740961-119742071	SK-N-SH	brain:	n/a	chr5:119741200-119741221 chr5:119741204-119741219 chr5:119741204-119741220 chr5:119741206-119741217
5	MAFK	chr5:119740989-119741404	IMR90	lung:	n/a	chr5:119741164-119741174 chr5:119741164-119741173
6	FOS	chr5:119740980-119741873	MCF10A-Er-Src	breast:	n/a	chr5:119741167-119741174 chr5:119741165-119741174 chr5:119741166-119741174 chr5:119741164-119741176 chr5:119741164-119741175
7	JUND	chr5:119740955-119741626	SK-N-SH	brain:	n/a	chr5:119741167-119741174 chr5:119741165-119741174 chr5:119741164-119741175 chr5:119741166-119741174 chr5:119741164-119741176
8	MYC	chr5:119741009-119741347	MCF10A-Er-Src	breast:	n/a	chr5:119741165-119741174 chr5:119741166-119741175
9	GATA2	chr5:119741084-119742159	HUVEC	blood vessel:	n/a	n/a
10	STAT3	chr5:119740931-119741848	MCF10A-Er-Src	breast:	n/a	chr5:119741166-119741175 chr5:119741165-119741174
11	CEBPB	chr5:119740974-119741851	IMR90	lung:	n/a	chr5:119741591-119741603
12	JUND	chr5:119740983-119741387	Hela-S3	cervix:	n/a	chr5:119741167-119741174 chr5:119741165-119741174 chr5:119741164-119741175 chr5:119741166-119741174 chr5:119741164-119741176
13	KAP1	chr5:119741263-119741961	U2OS	brain:	n/a	n/a
14	TCF12	chr5:119740986-119742117	SK-N-SH	brain:	n/a	n/a
15	STAT3	chr5:119740962-119741893	MCF10A-Er-Src	breast:	n/a	chr5:119741166-119741175 chr5:119741165-119741174
16	POLR2A	chr5:119741005-119741417	MCF10A-Er-Src	breast:	n/a	n/a
17	JUND	chr5:119740874-119742067	SK-N-SH	brain:	n/a	chr5:119741167-119741174 chr5:119741165-119741174 chr5:119741164-119741175 chr5:119741166-119741174 chr5:119741164-119741176
18	JUND	chr5:119741047-119741469	HCT-116	colon:	n/a	chr5:119741167-119741174 chr5:119741165-119741174 chr5:119741164-119741175 chr5:119741166-119741174 chr5:119741164-119741176
19	FOS	chr5:119740955-119742017	HUVEC	blood vessel:	n/a	chr5:119741167-119741174 chr5:119741165-119741174 chr5:119741166-119741174 chr5:119741164-119741176 chr5:119741164-119741175
20	FOS	chr5:119740898-119741967	MCF10A-Er-Src	breast:	n/a	chr5:119741167-119741174 chr5:119741165-119741174 chr5:119741166-119741174 chr5:119741164-119741176 chr5:119741164-119741175
21	TCF12	chr5:119740874-119741402	SK-N-SH	brain:	n/a	n/a
22	GATA3	chr5:119740919-119742134	SK-N-SH	brain:	n/a	n/a
23	FOS	chr5:119740941-119741935	MCF10A-Er-Src	breast:	n/a	chr5:119741167-119741174 chr5:119741165-119741174 chr5:119741166-119741174 chr5:119741164-119741176 chr5:119741164-119741175
24	STAT3	chr5:119741083-119741386	MCF10A-Er-Src	breast:	n/a	chr5:119741166-119741175 chr5:119741165-119741174
25	FOS	chr5:119740934-119741966	MCF10A-Er-Src	breast:	n/a	chr5:119741167-119741174 chr5:119741165-119741174 chr5:119741166-119741174 chr5:119741164-119741176 chr5:119741164-119741175
26	POLR2A	chr5:119740980-119741333	SK-N-SH	brain:	n/a	n/a
27	GATA3	chr5:119741008-119742171	SK-N-SH	brain:	n/a	n/a
28	EP300	chr5:119740901-119742054	SK-N-SH	brain:	n/a	chr5:119741165-119741174
29	MEF2A	chr5:119740978-119742054	SK-N-SH	brain:	n/a	chr5:119741200-119741221 chr5:119741204-119741219 chr5:119741204-119741220 chr5:119741206-119741217
30	JUN	chr5:119740987-119741385	HUVEC	blood vessel:	n/a	chr5:119741167-119741174 chr5:119741165-119741174 chr5:119741166-119741174 chr5:119741164-119741176

Variant related genes	Relation type
ENSG00000261036	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10051546	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10056249	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10068206	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478461	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478462	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12019326	1.00[ASN][1000 genomes]
rs12719276	0.80[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13154169	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171079	0.80[EUR][1000 genomes]
rs13179086	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13361012	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13361317	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13436530	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1432459	1.00[ASN][1000 genomes]
rs1503927	0.80[EUR][1000 genomes]
rs17146502	1.00[ASN][1000 genomes]
rs17146514	1.00[ASN][1000 genomes]
rs17146517	1.00[ASN][1000 genomes]
rs17146599	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164648	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2099297	1.00[ASN][1000 genomes]
rs28673517	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28786120	0.82[EUR][1000 genomes]
rs33936956	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57783585	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6861613	1.00[ASN][1000 genomes]
rs6868582	1.00[ASN][1000 genomes]
rs6878650	1.00[ASN][1000 genomes]
rs6883355	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6883954	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898093	1.00[ASN][1000 genomes]
rs714809	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71586481	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73782016	1.00[ASN][1000 genomes]
rs73784904	1.00[ASN][1000 genomes]
rs73784905	1.00[ASN][1000 genomes]
rs7702248	1.00[ASN][1000 genomes]
rs7708836	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1020655	chr5:119729801-119781762	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119735800-119744600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:119739400-119741400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:119739800-119743400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:119740200-119741800	Enhancers	NHLF	lung
5	chr5:119740200-119742000	Enhancers	HUVEC	blood vessel
6	chr5:119740200-119742200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:119740200-119742800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:119740400-119742200	Enhancers	HMEC	breast
9	chr5:119740400-119742200	Enhancers	HSMM	muscle
10	chr5:119740400-119742200	Enhancers	NHDF-Ad	bronchial
11	chr5:119740400-119742200	Enhancers	Osteobl	bone
12	chr5:119740400-119742400	Enhancers	NH-A	brain
13	chr5:119740600-119741800	Enhancers	Hela-S3	cervix
14	chr5:119740600-119742000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:119740600-119742000	Enhancers	HSMMtube	muscle
16	chr5:119740600-119742200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:119741000-119741600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:119741200-119741400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:119741200-119741400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:119741200-119741400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr5:119741200-119741600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr5:119741200-119741600	Enhancers	NHEK	skin
23	chr5:119741200-119741800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr5:119741200-119741800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr5:119741200-119742000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:119741200-119742000	Enhancers	Fetal Heart	heart
27	chr5:119741200-119742200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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