Variant report

Variant	rs10147663
Chromosome Location	chr14:22120485-22120486
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	RFX5	chr14:22120300-22120897	H1-hESC	embryonic stem cell:	n/a	n/a
2	RFX5	chr14:22120434-22120832	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:22120322-22121081	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr14:22117802-22121088	SK-N-MC	brain:	n/a	n/a

Variant related genes	Relation type
ARL6IP1P1	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10137047	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10138379	0.86[JPT][hapmap]
rs10138803	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs10143044	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10145663	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs10146733	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs10151604	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs1076545	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11157092	0.82[JPT][hapmap]
rs11157094	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12435524	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12436422	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs12436446	1.00[CEU][hapmap]
rs12717305	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2204931	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28698926	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35762321	0.83[EUR][1000 genomes]
rs3748364	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4982482	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4982483	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6571976	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6571990	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs7144733	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs725891	1.00[CEU][hapmap]
rs8006599	1.00[CEU][hapmap]
rs8008166	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs8013567	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs8017708	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv1042309	chr14:22042511-22866936	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	90 gene(s)	inside rSNPs	diseases
4	nsv456147	chr14:22073473-22305071	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv563851	chr14:22073473-22305071	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv901479	chr14:22102800-22146832	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr14:22120200-22120800	Enhancers	Spleen	Spleen
2	chr14:22120200-22121000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr14:22120200-22121000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:22120200-22122600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr14:22120400-22120800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr14:22120400-22120800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:22120400-22120800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:22120400-22120800	Enhancers	HUVEC	blood vessel
9	chr14:22120400-22121000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr14:22120400-22121000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr14:22120400-22121000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:22120400-22121000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:22120400-22121000	Enhancers	Lung	lung
14	chr14:22120400-22121200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr14:22120400-22122800	Enhancers	Rectal Mucosa Donor 29	rectum

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