Variant report

Variant	rs13330462
Chromosome Location	chr16:30364805-30364806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MBD4	chr16:30363289-30364855	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:30362407-30364951	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:30364590-30364835	K562	blood:	n/a	n/a
4	FOSL2	chr16:30362903-30364923	HepG2	liver:	n/a	n/a
5	POLR2A	chr16:30363894-30364875	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:30360110-30369693	HepG2	liver:	n/a	n/a
7	POLR2A	chr16:30363269-30365340	HepG2	liver:	n/a	n/a
8	POLR2A	chr16:30363901-30365011	HepG2	liver:	n/a	n/a
9	POLR2A	chr16:30361391-30369063	HepG2	liver:	n/a	n/a
10	MYBL2	chr16:30363946-30364915	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30364578..30368660-chr16:30404559..30407754,8	MCF-7	breast:
2	chr16:30345346..30347194-chr16:30364689..30366452,2	MCF-7	breast:
3	chr16:30364489..30367608-chr16:30429426..30432189,3	K562	blood:
4	chr16:30364739..30368463-chr16:30416926..30421783,8	MCF-7	breast:
5	chr16:30364152..30368341-chr16:30388051..30392327,13	K562	blood:
6	chr16:30364744..30367445-chr17:58469119..58471107,2	MCF-7	breast:
7	chr16:30364024..30368341-chr16:30387690..30394486,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260219	TF binding region
ENSG00000170832	Chromatin interaction
ENSG00000199787	Chromatin interaction
ENSG00000179965	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000270466	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000183604	Chromatin interaction
ENSG00000141371	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13335932	1.00[ASW][hapmap];0.97[LWK][hapmap];0.87[MKK][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28404428	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4072354	0.82[ASW][hapmap];1.00[ASN][1000 genomes]
rs4341758	1.00[ASN][1000 genomes]
rs73532587	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9926426	1.00[ASW][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9926923	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9928218	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
2	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
3	esv2758420	chr16:30073955-30383280	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
4	esv2758642	chr16:30073955-30383280	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	nsv1056897	chr16:30363683-30457504	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13330462	SLC7A5P1	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30360200-30365600	Weak transcription	Fetal Kidney	kidney
2	chr16:30360400-30365000	Strong transcription	Primary T helper cells PMA-I stimulated	--
3	chr16:30360600-30365200	Strong transcription	Sigmoid Colon	Sigmoid Colon
4	chr16:30360600-30365200	Strong transcription	NHEK	skin
5	chr16:30360800-30365000	Strong transcription	Fetal Thymus	thymus
6	chr16:30360800-30365200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr16:30361000-30365200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:30361000-30365200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr16:30361000-30365200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr16:30361000-30365400	Strong transcription	Primary T cells from cord blood	blood
11	chr16:30361000-30365400	Genic enhancers	Fetal Intestine Small	intestine
12	chr16:30361000-30365400	Strong transcription	Thymus	Thymus
13	chr16:30361200-30365000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:30361200-30365200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr16:30361200-30365400	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr16:30361400-30365200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr16:30361400-30365200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr16:30361600-30365000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:30361600-30365000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr16:30361600-30365000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr16:30361600-30365000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:30361600-30365200	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr16:30361600-30365200	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr16:30361600-30365400	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr16:30361600-30365400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr16:30361600-30365400	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr16:30361600-30365400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr16:30361600-30365400	Genic enhancers	Duodenum Mucosa	Duodenum
29	chr16:30361600-30365600	Genic enhancers	Primary T cells fromperipheralblood	blood
30	chr16:30361600-30366000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr16:30361800-30365400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr16:30361800-30365400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:30362000-30365000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr16:30362000-30365000	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr16:30362000-30365200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
36	chr16:30362000-30365600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr16:30362200-30365000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr16:30362200-30365000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr16:30362200-30365200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr16:30362200-30365200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr16:30362200-30365400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
42	chr16:30362200-30365600	Genic enhancers	Left Ventricle	heart
43	chr16:30362400-30365000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr16:30362400-30365200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr16:30362400-30365600	Genic enhancers	Fetal Muscle Trunk	muscle
46	chr16:30362600-30365000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr16:30362600-30365200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr16:30362600-30365200	Genic enhancers	Adipose Nuclei	Adipose
49	chr16:30362600-30365400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
50	chr16:30362800-30365200	Genic enhancers	Pancreas	Pancrea

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