Variant report

Variant	rs331595
Chromosome Location	chr13:111205376-111205377
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111166149..111167793-chr13:111205225..111207566,2	MCF-7	breast:
2	chr13:111201950..111204873-chr13:111205223..111206978,2	K562	blood:
3	chr13:111205147..111211458-chr13:111212289..111216967,11	MCF-7	breast:
4	chr13:111205257..111207154-chr13:111364862..111368979,4	K562	blood:
5	chr13:111204101..111205648-chr13:111211742..111214069,2	MCF-7	breast:
6	chr13:111201947..111204873-chr13:111205223..111206978,3	K562	blood:

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

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1318377	0.86[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1886871	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[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	0.88[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs331598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs331599	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs331601	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]
rs370389	1.00[GIH][hapmap]
rs413695	0.93[ASN][1000 genomes]
rs422183	0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4771690	1.00[ASN][1000 genomes]
rs6492283	0.88[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs6492284	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs912941	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912942	1.00[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs912943	1.00[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs912945	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs927793	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs942921	0.88[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9555717	1.00[ASN][1000 genomes]
rs9634594	0.80[AMR][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:71 , 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	chr13:111191400-111207200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr13:111192200-111212000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr13:111194400-111212000	Weak transcription	K562	blood
8	chr13:111195400-111211400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr13:111197200-111211800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr13:111197800-111208400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr13:111199800-111205400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr13:111199800-111211800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:111199800-111212000	Weak transcription	Esophagus	oesophagus
14	chr13:111200000-111207600	Weak transcription	Colonic Mucosa	Colon
15	chr13:111200200-111206600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr13:111200200-111207400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr13:111200200-111207800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr13:111200200-111211800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr13:111200200-111212000	Weak transcription	Hela-S3	cervix
20	chr13:111200600-111207000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr13:111200600-111209200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:111201400-111206600	Weak transcription	Fetal Intestine Large	intestine
23	chr13:111201400-111208200	Weak transcription	Right Atrium	heart
24	chr13:111201400-111212000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr13:111201600-111206600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr13:111202800-111206800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr13:111202800-111209200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr13:111204000-111205400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr13:111204000-111205400	Weak transcription	Brain Substantia Nigra	brain
30	chr13:111204000-111205400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr13:111204000-111205800	Weak transcription	Adipose Nuclei	Adipose
32	chr13:111204000-111206600	Weak transcription	Left Ventricle	heart
33	chr13:111204000-111206600	Weak transcription	Right Ventricle	heart
34	chr13:111204000-111206600	Weak transcription	Spleen	Spleen
35	chr13:111204000-111207000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr13:111204000-111207000	Weak transcription	Placenta	Placenta
37	chr13:111204000-111207000	Weak transcription	GM12878-XiMat	blood
38	chr13:111204000-111207200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr13:111204000-111207600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr13:111204000-111208000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr13:111204000-111208000	Weak transcription	Small Intestine	intestine
42	chr13:111204000-111209000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr13:111204000-111209200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr13:111204000-111209400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr13:111204000-111209800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr13:111204000-111209800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr13:111204000-111211800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:111204000-111211800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr13:111204200-111205600	Weak transcription	Liver	Liver
50	chr13:111204200-111206600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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