Variant report

Variant	rs1503442
Chromosome Location	chr11:16425782-16425783
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	FOXA1	chr11:16425410-16425834	HepG2	liver:	n/a	chr11:16425713-16425725
2	FOXA1	chr11:16425250-16425825	HepG2	liver:	n/a	chr11:16425713-16425725
3	FOXA1	chr11:16425295-16425892	HepG2	liver:	n/a	chr11:16425713-16425725
4	SP1	chr11:16425387-16425799	HepG2	liver:	n/a	n/a
5	FOXA2	chr11:16425306-16426083	HepG2	liver:	n/a	chr11:16425713-16425725

Variant related genes	Relation type
SOX6	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs16932975	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16933090	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.89[ASN][1000 genomes]
rs58769283	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61404451	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73429701	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73431671	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73431673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73431677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73431679	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73431686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73431697	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73433503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73433517	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73433521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73433526	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73433528	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73433538	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73433558	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73433560	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7925853	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7938702	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs924748	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv529731	chr11:16122782-16468170	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv832075	chr11:16391700-16490934	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16417200-16434200	Weak transcription	Psoas Muscle	Psoas
2	chr11:16423600-16428000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:16423800-16428200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr11:16424000-16425800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr11:16424000-16427400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:16424000-16428000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:16424200-16425800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:16424200-16427400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr11:16424400-16426000	Enhancers	Fetal Intestine Large	intestine
10	chr11:16424400-16426200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:16424400-16426400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:16424400-16426800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:16424400-16426800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr11:16424400-16427200	Enhancers	Fetal Intestine Small	intestine
15	chr11:16424800-16425800	Enhancers	Brain Angular Gyrus	brain
16	chr11:16424800-16426800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:16424800-16428000	Enhancers	HepG2	liver
18	chr11:16425000-16425800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:16425000-16425800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:16425000-16427000	Enhancers	Duodenum Mucosa	Duodenum
21	chr11:16425000-16427200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:16425200-16425800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr11:16425200-16425800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr11:16425200-16426000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
25	chr11:16425200-16426000	Weak transcription	Brain Substantia Nigra	brain
26	chr11:16425200-16426800	Enhancers	Brain Hippocampus Middle	brain
27	chr11:16425200-16427600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr11:16425200-16428000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
29	chr11:16425200-16428000	Weak transcription	K562	blood
30	chr11:16425400-16426200	Weak transcription	Brain Germinal Matrix	brain
31	chr11:16425400-16426600	Weak transcription	Fetal Kidney	kidney
32	chr11:16425600-16425800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
33	chr11:16425600-16426200	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr11:16425600-16427000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr11:16425600-16427200	Active TSS	Pancreatic Islets	Pancreatic Islet

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