Variant report

Variant	rs1536621
Chromosome Location	chr13:111208336-111208337
allele	G/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:111161352..111163541-chr13:111207330..111209869,3	MCF-7	breast:
2	chr13:111189062..111191604-chr13:111205599..111208435,2	MCF-7	breast:
3	chr13:111178113..111180928-chr13:111206960..111210358,3	MCF-7	breast:
4	chr13:111198748..111201461-chr13:111207040..111209590,2	K562	blood:
5	chr13:111205147..111211458-chr13:111212289..111216967,11	MCF-7	breast:
6	chr13:111207188..111209272-chr13:111210508..111214115,3	K562	blood:
7	chr13:111200336..111203399-chr13:111205632..111210052,4	MCF-7	breast:
8	chr13:111106958..111108527-chr13:111207084..111209733,2	MCF-7	breast:
9	chr13:111207188..111209717-chr13:111210508..111214695,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139832	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs331602	0.85[JPT][hapmap]
rs9521840	0.87[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1536621	ARHGEF7	cis	parietal	SCAN

Chromatin state (count:74 , 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	chr13:111200200-111211800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr13:111200200-111212000	Weak transcription	Hela-S3	cervix
14	chr13:111200600-111209200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:111201400-111212000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr13:111202800-111209200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr13:111204000-111209000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:111204000-111209200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:111204000-111209400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr13:111204000-111209800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr13:111204000-111209800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr13:111204000-111211800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr13:111204000-111211800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr13:111204200-111209400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr13:111204200-111212000	Weak transcription	Fetal Kidney	kidney
26	chr13:111204400-111211400	Weak transcription	Fetal Lung	lung
27	chr13:111204400-111211400	Weak transcription	Ovary	ovary
28	chr13:111205200-111209400	Enhancers	Pancreas	Pancrea
29	chr13:111205200-111210600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr13:111205600-111209200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr13:111205600-111210000	Weak transcription	Aorta	Aorta
32	chr13:111205600-111211600	Weak transcription	Brain Hippocampus Middle	brain
33	chr13:111205600-111211800	Weak transcription	Psoas Muscle	Psoas
34	chr13:111206000-111208600	Enhancers	Liver	Liver
35	chr13:111206600-111208600	Genic enhancers	Gastric	stomach
36	chr13:111206600-111209200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr13:111206600-111209400	Genic enhancers	Fetal Intestine Large	intestine
38	chr13:111206600-111210600	Genic enhancers	Spleen	Spleen
39	chr13:111206600-111211800	Enhancers	Stomach Mucosa	stomach
40	chr13:111206800-111208800	Strong transcription	Fetal Stomach	stomach
41	chr13:111206800-111210200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr13:111206800-111211800	Genic enhancers	Fetal Intestine Small	intestine
43	chr13:111207000-111208600	Genic enhancers	Lung	lung
44	chr13:111207000-111208800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr13:111207000-111208800	Enhancers	GM12878-XiMat	blood
46	chr13:111207000-111209000	Enhancers	Placenta	Placenta
47	chr13:111207000-111209200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr13:111207000-111210400	Genic enhancers	Duodenum Mucosa	Duodenum
49	chr13:111207000-111211600	Weak transcription	Fetal Heart	heart
50	chr13:111207200-111208400	Enhancers	Rectal Mucosa Donor 31	rectum

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