Variant report

Variant	rs9588191
Chromosome Location	chr13:111210072-111210073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111178113..111180928-chr13:111206960..111210358,3	MCF-7	breast:
2	chr13:111205147..111211458-chr13:111212289..111216967,11	MCF-7	breast:
3	chr13:111209486..111211441-chr13:111366105..111367683,2	K562	blood:
4	chr13:111208343..111210898-chr13:111364767..111367709,3	MCF-7	breast:

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

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs189093	1.00[EUR][1000 genomes]
rs2766502	1.00[EUR][1000 genomes]
rs330565	1.00[EUR][1000 genomes]
rs3742192	1.00[EUR][1000 genomes]
rs414485	1.00[EUR][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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111184000-111211800	Weak transcription	HMEC	breast
2	chr13:111191200-111213000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr13:111192200-111212000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:111194400-111212000	Weak transcription	K562	blood
5	chr13:111195400-111211400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr13:111197200-111211800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr13:111199800-111211800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:111199800-111212000	Weak transcription	Esophagus	oesophagus
9	chr13:111200200-111211800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr13:111200200-111212000	Weak transcription	Hela-S3	cervix
11	chr13:111201400-111212000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:111204000-111211800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr13:111204000-111211800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr13:111204200-111212000	Weak transcription	Fetal Kidney	kidney
15	chr13:111204400-111211400	Weak transcription	Fetal Lung	lung
16	chr13:111204400-111211400	Weak transcription	Ovary	ovary
17	chr13:111205200-111210600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr13:111205600-111211600	Weak transcription	Brain Hippocampus Middle	brain
19	chr13:111205600-111211800	Weak transcription	Psoas Muscle	Psoas
20	chr13:111206600-111210600	Genic enhancers	Spleen	Spleen
21	chr13:111206600-111211800	Enhancers	Stomach Mucosa	stomach
22	chr13:111206800-111210200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr13:111206800-111211800	Genic enhancers	Fetal Intestine Small	intestine
24	chr13:111207000-111210400	Genic enhancers	Duodenum Mucosa	Duodenum
25	chr13:111207000-111211600	Weak transcription	Fetal Heart	heart
26	chr13:111207200-111210600	Genic enhancers	Monocytes-CD14+_RO01746	blood
27	chr13:111207200-111210800	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr13:111207200-111211800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr13:111207600-111210400	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr13:111208000-111210600	Genic enhancers	Stomach Smooth Muscle	stomach
31	chr13:111208400-111212000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:111208600-111210600	Genic enhancers	Liver	Liver
33	chr13:111208600-111211600	Weak transcription	Right Atrium	heart
34	chr13:111208600-111213200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr13:111208800-111210200	Genic enhancers	HepG2	liver
36	chr13:111208800-111211600	Weak transcription	Primary B cells from cord blood	blood
37	chr13:111208800-111212000	Weak transcription	Small Intestine	intestine
38	chr13:111208800-111212200	Weak transcription	GM12878-XiMat	blood
39	chr13:111208800-111213000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr13:111209000-111210600	Genic enhancers	Placenta	Placenta
41	chr13:111209200-111210200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr13:111209200-111210200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr13:111209200-111210600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr13:111209200-111210600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr13:111209200-111210600	Strong transcription	Left Ventricle	heart
46	chr13:111209200-111210800	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr13:111209200-111211600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr13:111209400-111210200	Genic enhancers	Pancreas	Pancrea
49	chr13:111209400-111210200	Genic enhancers	Rectal Mucosa Donor 29	rectum
50	chr13:111209400-111210600	Genic enhancers	Gastric	stomach

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