Variant report

Variant	rs67736583
Chromosome Location	chr13:111107863-111107864
allele	CGA/TGC
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:111107610..111109499-chr13:111162077..111163995,2	K562	blood:
2	chr13:111104435..111110355-chr13:111364229..111367898,5	MCF-7	breast:
3	chr13:111107007..111108826-chr13:111174960..111176925,2	MCF-7	breast:
4	chr13:111106451..111110358-chr13:111364193..111366968,4	K562	blood:
5	chr13:111099271..111103584-chr13:111104898..111108256,4	MCF-7	breast:
6	chr13:111107824..111108748-chr13:111297271..111297854,2	MCF-7	breast:
7	chr13:111105537..111108314-chr13:111364006..111365730,2	MCF-7	breast:
8	chr13:111107847..111110592-chr13:111111239..111113236,3	MCF-7	breast:
9	chr13:111106958..111108527-chr13:111207084..111209733,2	MCF-7	breast:
10	chr13:111106850..111109675-chr13:111241801..111244096,2	MCF-7	breast:
11	chr13:111106557..111109185-chr13:111212224..111215375,3	MCF-7	breast:
12	chr13:111107216..111109712-chr13:111113064..111115037,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134871	Chromatin interaction
ENSG00000139832	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000134905	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs35131825	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7139931	0.95[AFR][1000 genomes]
rs7322646	0.93[AFR][1000 genomes]
rs7992330	0.95[AFR][1000 genomes]
rs7995236	0.97[AFR][1000 genomes]
rs9555703	0.95[AFR][1000 genomes]
rs9559808	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	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
3	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv901008	chr13:111089573-111126501	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv430604	chr13:111095999-111156999	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	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
7	nsv1039297	chr13:111101507-111138863	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv541923	chr13:111101507-111138863	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111070200-111108400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr13:111078200-111136800	Weak transcription	Colonic Mucosa	Colon
3	chr13:111083600-111110000	Weak transcription	Esophagus	oesophagus
4	chr13:111091000-111108400	Weak transcription	Brain Angular Gyrus	brain
5	chr13:111093800-111108200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr13:111094800-111108200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr13:111095000-111108400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr13:111095800-111108200	Strong transcription	Fetal Intestine Small	intestine
9	chr13:111095800-111108400	Weak transcription	Brain Substantia Nigra	brain
10	chr13:111096800-111108400	Weak transcription	Brain Germinal Matrix	brain
11	chr13:111097000-111109000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:111098200-111108200	Weak transcription	Brain Anterior Caudate	brain
13	chr13:111099000-111123400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr13:111099600-111108400	Weak transcription	Fetal Brain Female	brain
15	chr13:111099800-111108400	Strong transcription	Fetal Stomach	stomach
16	chr13:111099800-111116400	Strong transcription	Fetal Muscle Leg	muscle
17	chr13:111100000-111120000	Weak transcription	Pancreas	Pancrea
18	chr13:111100400-111108400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr13:111100400-111118200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr13:111101200-111108400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:111101200-111108400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:111101200-111108400	Weak transcription	NHDF-Ad	bronchial
23	chr13:111101200-111108400	Strong transcription	Osteobl	bone
24	chr13:111101600-111108200	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr13:111101600-111130200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr13:111101800-111127800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr13:111102200-111122000	Strong transcription	Placenta	Placenta
28	chr13:111103000-111108200	Weak transcription	Gastric	stomach
29	chr13:111103400-111108200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr13:111103600-111112000	Weak transcription	HSMMtube	muscle
31	chr13:111103800-111125600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr13:111104000-111108200	Weak transcription	HMEC	breast
33	chr13:111104200-111111600	Weak transcription	Fetal Lung	lung
34	chr13:111104400-111111400	Weak transcription	HSMM	muscle
35	chr13:111105200-111108000	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr13:111105400-111108200	Weak transcription	NHEK	skin
37	chr13:111105400-111108400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:111105800-111108200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr13:111105800-111108400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr13:111105800-111108800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr13:111105800-111108800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr13:111105800-111138000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr13:111106200-111110400	Strong transcription	Adipose Nuclei	Adipose
44	chr13:111106400-111108800	Strong transcription	NH-A	brain
45	chr13:111106400-111115200	Weak transcription	Fetal Kidney	kidney
46	chr13:111106600-111108200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr13:111106600-111111800	Strong transcription	Aorta	Aorta
48	chr13:111106600-111112400	Strong transcription	NHLF	lung
49	chr13:111106800-111108000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr13:111106800-111108000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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