Variant report

Variant	rs395289
Chromosome Location	chr13:111214962-111214963
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:111214791-111215038	HepG2	liver:	n/a	n/a
2	ELF1	chr13:111214707-111215061	GM12878	blood:	n/a	n/a
3	NFIC	chr13:111214159-111215049	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:111211605..111215710-chr13:111363534..111368936,10	MCF-7	breast:
2	chr13:111212473..111215656-chr13:111365341..111368678,3	K562	blood:
3	chr13:111158315..111162369-chr13:111211913..111215301,3	MCF-7	breast:
4	chr13:111159545..111161201-chr13:111212465..111215084,2	MCF-7	breast:

No data

Variant related genes	Relation type
RAB20	TF binding region
ENSG00000232814	Chromatin interaction
ENSG00000134905	Chromatin interaction
ENSG00000134871	Chromatin interaction
ENSG00000153487	Chromatin interaction

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

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

rs_ID	r²[population]
rs2479435	0.87[EUR][1000 genomes]
rs424904	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111211600-111215000	Active TSS	Aorta	Aorta
2	chr13:111211600-111215000	Active TSS	Brain Anterior Caudate	brain
3	chr13:111211600-111215600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr13:111211800-111215400	Active TSS	Stomach Mucosa	stomach
5	chr13:111212000-111215000	Active TSS	Fetal Intestine Large	intestine
6	chr13:111212000-111215000	Active TSS	NHLF	lung
7	chr13:111212000-111215200	Active TSS	HSMM	muscle
8	chr13:111212000-111215400	Active TSS	Fetal Kidney	kidney
9	chr13:111212000-111215800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:111212200-111215200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr13:111212200-111215200	Active TSS	Gastric	stomach
12	chr13:111212400-111215000	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr13:111212400-111215200	Active TSS	Psoas Muscle	Psoas
14	chr13:111212400-111215200	Active TSS	Right Ventricle	heart
15	chr13:111212400-111215600	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr13:111212600-111215000	Active TSS	Ovary	ovary
17	chr13:111212600-111215000	Active TSS	Right Atrium	heart
18	chr13:111212600-111215200	Active TSS	H1 Cell Line	embryonic stem cell
19	chr13:111212600-111215400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr13:111212600-111216200	Active TSS	Colonic Mucosa	Colon
21	chr13:111212800-111215000	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr13:111212800-111215000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr13:111212800-111215000	Active TSS	Liver	Liver
24	chr13:111212800-111215000	Active TSS	Colon Smooth Muscle	Colon
25	chr13:111212800-111215000	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr13:111212800-111215000	Active TSS	HMEC	breast
27	chr13:111212800-111215000	Active TSS	NHDF-Ad	bronchial
28	chr13:111212800-111215200	Active TSS	H9 Cell Line	embryonic stem cell
29	chr13:111212800-111215200	Active TSS	Duodenum Mucosa	Duodenum
30	chr13:111212800-111215200	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr13:111212800-111215200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr13:111212800-111215800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:111212800-111215800	Active TSS	Rectal Smooth Muscle	rectum
34	chr13:111213000-111215000	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr13:111213000-111215200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr13:111213400-111215000	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr13:111213400-111215000	Active TSS	Fetal Heart	heart
38	chr13:111213400-111215000	Active TSS	Spleen	Spleen
39	chr13:111213400-111215000	Active TSS	A549	lung
40	chr13:111213400-111215200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
41	chr13:111213400-111215800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr13:111213600-111215000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr13:111213600-111215000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr13:111213600-111215000	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr13:111213600-111215000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr13:111213600-111215200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr13:111213800-111215000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr13:111213800-111215000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr13:111213800-111215000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr13:111213800-111215000	Active TSS	Brain Inferior Temporal Lobe	brain

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