Variant report

Variant	rs9526532
Chromosome Location	chr13:49821244-49821245
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	MXI1	chr13:49821178-49823239	IMR90	lung:	n/a	n/a
2	JUN	chr13:49821107-49821379	HepG2	liver:	n/a	chr13:49821181-49821194
3	JUND	chr13:49821147-49821289	K562	blood:	n/a	n/a
4	CEBPB	chr13:49821066-49821289	Hela-S3	cervix:	n/a	n/a
5	JUN	chr13:49821073-49822508	K562	blood:	n/a	chr13:49821999-49822008 chr13:49821181-49821194 chr13:49821995-49822008
6	MYC	chr13:49821191-49822641	K562	blood:	n/a	n/a
7	MXI1	chr13:49821057-49823323	SK-N-SH	brain:	n/a	n/a
8	CEBPB	chr13:49821010-49821382	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49820441..49822930-chr13:50018500..50020473,2	K562	blood:
2	chr13:49820702..49823407-chr13:50017509..50020339,3	MCF-7	breast:

Variant related genes	Relation type
CDADC1	TF binding region
ENSG00000136169	Chromatin interaction
ENSG00000102547	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1013347	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12184794	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12871418	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1359066	0.89[GIH][hapmap]
rs1407827	0.89[GIH][hapmap]
rs1407829	0.89[GIH][hapmap]
rs1535922	0.82[GIH][hapmap];0.80[MKK][hapmap];0.83[AMR][1000 genomes]
rs1555672	0.81[CHD][hapmap]
rs1983805	0.89[GIH][hapmap]
rs2075610	0.95[CEU][hapmap];0.87[CHB][hapmap];0.80[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2146748	0.82[GIH][hapmap]
rs2147399	0.87[AMR][1000 genomes]
rs2181539	0.82[GIH][hapmap]
rs2407521	0.82[CHB][hapmap];0.83[CHD][hapmap]
rs2994377	0.82[GIH][hapmap]
rs2994378	0.82[GIH][hapmap];0.80[MKK][hapmap]
rs2994379	0.82[GIH][hapmap]
rs2994380	0.84[GIH][hapmap]
rs4142065	0.82[GIH][hapmap]
rs4530025	0.82[GIH][hapmap]
rs4942800	0.89[GIH][hapmap]
rs6561496	0.82[GIH][hapmap]
rs6561497	0.82[GIH][hapmap]
rs6561506	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6561507	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6561510	0.81[ASW][hapmap];0.91[LWK][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs67235936	0.85[AMR][1000 genomes]
rs67311158	0.82[AFR][1000 genomes]
rs7338304	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7982804	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7990341	0.83[YRI][hapmap];0.84[AFR][1000 genomes]
rs7992080	0.83[AFR][1000 genomes]
rs7994910	0.89[GIH][hapmap]
rs7995616	0.89[GIH][hapmap]
rs7996151	0.83[AMR][1000 genomes]
rs8002911	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9316428	0.82[GIH][hapmap]
rs9526531	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9535145	0.82[GIH][hapmap];0.80[MKK][hapmap]
rs9535146	0.82[GIH][hapmap]
rs9535154	0.82[GIH][hapmap];0.80[MKK][hapmap]
rs9535155	0.82[GIH][hapmap]
rs9535166	0.82[GIH][hapmap];0.80[MKK][hapmap];0.83[AMR][1000 genomes]
rs9535167	0.82[GIH][hapmap]
rs9535170	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9535172	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9562870	0.89[GIH][hapmap]
rs9568150	0.82[GIH][hapmap]
rs9568169	0.88[ASW][hapmap];0.95[CEU][hapmap];0.80[CHD][hapmap];0.93[GIH][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.90[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9568171	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9568172	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9568173	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9591246	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9591247	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9591249	0.82[CHB][hapmap];0.83[CHD][hapmap]
rs9596073	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs972297	0.84[GIH][hapmap];0.80[AMR][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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900069	chr13:49815405-49976393	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49817200-49821400	Weak transcription	Fetal Stomach	stomach
2	chr13:49818600-49821400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:49820800-49821400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr13:49820800-49821400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr13:49820800-49821400	Enhancers	Brain Hippocampus Middle	brain
6	chr13:49820800-49821400	Enhancers	Colon Smooth Muscle	Colon
7	chr13:49820800-49821600	Flanking Active TSS	Dnd41	blood
8	chr13:49821000-49821400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr13:49821000-49821400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr13:49821000-49821400	Enhancers	Liver	Liver
11	chr13:49821000-49821400	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr13:49821000-49821400	Enhancers	Fetal Intestine Large	intestine
13	chr13:49821000-49821600	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr13:49821000-49821800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr13:49821000-49821800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr13:49821000-49823200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:49821000-49823400	Active TSS	K562	blood
18	chr13:49821200-49821400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:49821200-49821400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr13:49821200-49821400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr13:49821200-49821400	Enhancers	Primary B cells from cord blood	blood
22	chr13:49821200-49821400	Enhancers	Primary B cells from peripheral blood	blood
23	chr13:49821200-49821400	Enhancers	Primary T cells fromperipheralblood	blood
24	chr13:49821200-49821400	Enhancers	Primary hematopoietic stem cells	blood
25	chr13:49821200-49821400	Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr13:49821200-49821400	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr13:49821200-49821400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr13:49821200-49821400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr13:49821200-49821400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr13:49821200-49821400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr13:49821200-49821400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr13:49821200-49821400	Enhancers	Adipose Nuclei	Adipose
33	chr13:49821200-49821400	Enhancers	Brain Germinal Matrix	brain
34	chr13:49821200-49821400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr13:49821200-49821400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr13:49821200-49821400	Active TSS	Fetal Brain Male	brain
37	chr13:49821200-49821400	Active TSS	Fetal Brain Female	brain
38	chr13:49821200-49821400	Enhancers	Fetal Thymus	thymus
39	chr13:49821200-49821400	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr13:49821200-49821400	Enhancers	Thymus	Thymus
41	chr13:49821200-49821600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:49821200-49821600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr13:49821200-49821600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr13:49821200-49821600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr13:49821200-49821600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr13:49821200-49821600	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr13:49821200-49821600	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr13:49821200-49821600	Flanking Active TSS	Fetal Kidney	kidney
49	chr13:49821200-49821600	Flanking Active TSS	Fetal Lung	lung
50	chr13:49821200-49821600	Enhancers	Small Intestine	intestine

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