Variant report

Variant	rs331601
Chromosome Location	chr13:111207326-111207327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:111198043..111201008-chr13:111205585..111207833,2	MCF-7	breast:
2	chr13:111166149..111167793-chr13:111205225..111207566,2	MCF-7	breast:
3	chr13:111189062..111191604-chr13:111205599..111208435,2	MCF-7	breast:
4	chr13:111178113..111180928-chr13:111206960..111210358,3	MCF-7	breast:
5	chr13:111198748..111201461-chr13:111207040..111209590,2	K562	blood:
6	chr13:111205147..111211458-chr13:111212289..111216967,11	MCF-7	breast:
7	chr13:111207188..111209272-chr13:111210508..111214115,3	K562	blood:
8	chr13:111205877..111207739-chr13:111217049..111218978,2	K562	blood:
9	chr13:111200336..111203399-chr13:111205632..111210052,4	MCF-7	breast:
10	chr13:111106958..111108527-chr13:111207084..111209733,2	MCF-7	breast:
11	chr13:111205966..111208052-chr13:111364423..111367291,2	MCF-7	breast:
12	chr13:111205760..111207476-chr13:111267605..111269402,2	K562	blood:
13	chr13:111207188..111209717-chr13:111210508..111214695,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000213995	Chromatin interaction
ENSG00000139832	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000134905	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1318377	0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs1886871	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1969890	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2182272	0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs331595	0.88[CHB][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs331598	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs331599	0.88[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs370389	1.00[GIH][hapmap]
rs413695	0.93[ASN][1000 genomes]
rs422183	0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs4771690	1.00[ASN][1000 genomes]
rs6492283	0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs6492284	0.88[CHB][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs912941	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912942	0.81[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs912943	0.81[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs912945	0.97[ASN][1000 genomes]
rs927793	0.88[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs942921	0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs9555717	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv832720	chr13:111100235-111295993	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1046291	chr13:111125747-111257861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1045143	chr13:111126822-111242791	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
6	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
7	nsv901010	chr13:111165390-111286592	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1053922	chr13:111167764-111330876	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1043849	chr13:111167764-111340418	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv541924	chr13:111167764-111340418	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv1036160	chr13:111167764-111347308	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv541925	chr13:111167764-111347308	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	nsv901011	chr13:111168951-111280002	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111160800-111209600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr13:111184000-111211800	Weak transcription	HMEC	breast
3	chr13:111184600-111209800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:111191200-111213000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr13:111192200-111212000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr13:111194400-111212000	Weak transcription	K562	blood
7	chr13:111195400-111211400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr13:111197200-111211800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr13:111197800-111208400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr13:111199800-111211800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:111199800-111212000	Weak transcription	Esophagus	oesophagus
12	chr13:111200000-111207600	Weak transcription	Colonic Mucosa	Colon
13	chr13:111200200-111207400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr13:111200200-111207800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr13:111200200-111211800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr13:111200200-111212000	Weak transcription	Hela-S3	cervix
17	chr13:111200600-111209200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:111201400-111208200	Weak transcription	Right Atrium	heart
19	chr13:111201400-111212000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr13:111202800-111209200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr13:111204000-111207600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr13:111204000-111208000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr13:111204000-111208000	Weak transcription	Small Intestine	intestine
24	chr13:111204000-111209000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:111204000-111209200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr13:111204000-111209400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr13:111204000-111209800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr13:111204000-111209800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr13:111204000-111211800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr13:111204000-111211800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr13:111204200-111209400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr13:111204200-111212000	Weak transcription	Fetal Kidney	kidney
33	chr13:111204400-111211400	Weak transcription	Fetal Lung	lung
34	chr13:111204400-111211400	Weak transcription	Ovary	ovary
35	chr13:111205200-111209400	Enhancers	Pancreas	Pancrea
36	chr13:111205200-111210600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr13:111205600-111209200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr13:111205600-111210000	Weak transcription	Aorta	Aorta
39	chr13:111205600-111211600	Weak transcription	Brain Hippocampus Middle	brain
40	chr13:111205600-111211800	Weak transcription	Psoas Muscle	Psoas
41	chr13:111206000-111208600	Enhancers	Liver	Liver
42	chr13:111206600-111208600	Genic enhancers	Gastric	stomach
43	chr13:111206600-111209200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr13:111206600-111209400	Genic enhancers	Fetal Intestine Large	intestine
45	chr13:111206600-111210600	Genic enhancers	Spleen	Spleen
46	chr13:111206600-111211800	Enhancers	Stomach Mucosa	stomach
47	chr13:111206800-111207400	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr13:111206800-111207600	Weak transcription	Adipose Nuclei	Adipose
49	chr13:111206800-111208800	Strong transcription	Fetal Stomach	stomach
50	chr13:111206800-111210200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland

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