Variant report

Variant	rs2328770
Chromosome Location	chr6:147176964-147176965
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	TBL1XR1	chr6:147176699-147177274	K562	blood:	n/a	n/a
2	JUN	chr6:147175193-147179604	K562	blood:	n/a	chr6:147178979-147178991 chr6:147176865-147176875 chr6:147176865-147176875 chr6:147178350-147178364 chr6:147177670-147177681
3	RCOR1	chr6:147176754-147177247	K562	blood:	n/a	n/a
4	POLR2A	chr6:147176422-147177083	K562	blood:	n/a	n/a
5	PML	chr6:147176880-147177946	K562	blood:	n/a	n/a
6	TEAD4	chr6:147176409-147177908	K562	blood:	n/a	n/a
7	UBTF	chr6:147176682-147177027	K562	blood:	n/a	n/a
8	POLR2A	chr6:147176013-147179639	K562	blood:	n/a	n/a
9	POLR2A	chr6:147175961-147179623	K562	blood:	n/a	n/a
10	POLR2A	chr6:147176012-147177871	K562	blood:	n/a	n/a
11	POLR2A	chr6:147176656-147177020	K562	blood:	n/a	n/a
12	MAFK	chr6:147176862-147177282	K562	blood:	n/a	n/a
13	POLR2A	chr6:147176632-147177043	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:147176826..147178897-chr6:147521577..147523241,2	K562	blood:
2	chr6:147174648..147177437-chr6:147537739..147539649,2	K562	blood:
3	chr6:147176495..147178346-chr6:147523944..147526516,2	MCF-7	breast:
4	chr6:147168202..147170500-chr6:147176797..147178304,2	K562	blood:

Variant related genes	Relation type
STXBP5-AS1	TF binding region
ENSG00000227748	TF binding region
ENSG00000233452	Chromatin interaction
ENSG00000164506	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1119876	0.91[JPT][hapmap]
rs1324680	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1324685	0.91[JPT][hapmap]
rs1408574	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1408575	0.82[JPT][hapmap]
rs1924691	0.82[CHD][hapmap];0.91[JPT][hapmap]
rs1924692	0.84[JPT][hapmap]
rs1924695	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2328769	0.91[JPT][hapmap]
rs259370	0.81[CEU][hapmap]
rs259371	0.88[CEU][hapmap];0.82[CHB][hapmap];0.88[GIH][hapmap];0.92[JPT][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs259385	0.81[CEU][hapmap]
rs477801	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4896892	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6570778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926089	0.93[EUR][1000 genomes]
rs6929209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6937015	0.84[ASN][1000 genomes]
rs7744139	0.80[EUR][1000 genomes]
rs7755795	0.91[JPT][hapmap]
rs9322079	0.85[CEU][hapmap]
rs9377032	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9390437	0.91[JPT][hapmap]
rs9399587	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9399588	0.89[ASN][1000 genomes]
rs9403826	0.90[JPT][hapmap]
rs9497645	0.86[YRI][hapmap]
rs9497647	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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	nsv830838	chr6:147090745-147274669	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147163200-147178800	Weak transcription	Right Atrium	heart
2	chr6:147163400-147178800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:147172000-147178400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:147172200-147178800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:147172800-147178800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:147173600-147178800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:147173800-147178600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:147173800-147178600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:147173800-147178600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:147173800-147178800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:147175200-147178800	Weak transcription	Gastric	stomach
12	chr6:147175600-147178800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:147176600-147177800	Transcr. at gene 5' and 3'	K562	blood
14	chr6:147176800-147177000	Flanking Active TSS	NHDF-Ad	bronchial
15	chr6:147176800-147177600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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