Variant report

Variant	rs57000313
Chromosome Location	chr13:111108643-111108644
allele	C/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: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	chr13:111107958..111109838-chr2:11209436..11210956,2	MCF-7	breast:
5	chr13:111108605..111110640-chr13:111363694..111365787,2	MCF-7	breast:
6	chr13:111106451..111110358-chr13:111364193..111366968,4	K562	blood:
7	chr13:111108088..111108850-chr13:111179257..111180150,2	K562	blood:
8	chr13:111107824..111108748-chr13:111297271..111297854,2	MCF-7	breast:
9	chr13:111107847..111110592-chr13:111111239..111113236,3	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
ENSG00000153487	Chromatin interaction
ENSG00000139832	Chromatin interaction
ENSG00000134871	Chromatin interaction
ENSG00000134905	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73617520	1.00[AMR][1000 genomes]
rs73617587	1.00[AMR][1000 genomes]
rs73619404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73619431	0.86[AFR][1000 genomes];1.00[AMR][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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111078200-111136800	Weak transcription	Colonic Mucosa	Colon
2	chr13:111083600-111110000	Weak transcription	Esophagus	oesophagus
3	chr13:111097000-111109000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:111099000-111123400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr13:111099800-111116400	Strong transcription	Fetal Muscle Leg	muscle
6	chr13:111100000-111120000	Weak transcription	Pancreas	Pancrea
7	chr13:111100400-111118200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr13:111101600-111130200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:111101800-111127800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr13:111102200-111122000	Strong transcription	Placenta	Placenta
11	chr13:111103600-111112000	Weak transcription	HSMMtube	muscle
12	chr13:111103800-111125600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:111104200-111111600	Weak transcription	Fetal Lung	lung
14	chr13:111104400-111111400	Weak transcription	HSMM	muscle
15	chr13:111105800-111108800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr13:111105800-111108800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr13:111105800-111138000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:111106200-111110400	Strong transcription	Adipose Nuclei	Adipose
19	chr13:111106400-111108800	Strong transcription	NH-A	brain
20	chr13:111106400-111115200	Weak transcription	Fetal Kidney	kidney
21	chr13:111106600-111111800	Strong transcription	Aorta	Aorta
22	chr13:111106600-111112400	Strong transcription	NHLF	lung
23	chr13:111106800-111110600	Strong transcription	Lung	lung
24	chr13:111107000-111109800	Weak transcription	Left Ventricle	heart
25	chr13:111107000-111111600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr13:111107400-111108800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr13:111107400-111110200	Weak transcription	HUVEC	blood vessel
28	chr13:111107400-111114600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:111107600-111109800	Weak transcription	Spleen	Spleen
30	chr13:111107600-111118000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:111107600-111130400	Weak transcription	Right Atrium	heart
32	chr13:111107800-111108800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:111108000-111108800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr13:111108000-111108800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr13:111108000-111108800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr13:111108000-111108800	Enhancers	Primary hematopoietic stem cells	blood
37	chr13:111108000-111108800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr13:111108000-111108800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr13:111108000-111108800	Enhancers	Liver	Liver
40	chr13:111108000-111109800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr13:111108200-111108800	Enhancers	Primary B cells from peripheral blood	blood
42	chr13:111108200-111108800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr13:111108200-111108800	Enhancers	Duodenum Mucosa	Duodenum
44	chr13:111108200-111108800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr13:111108200-111108800	Enhancers	Fetal Brain Male	brain
46	chr13:111108200-111108800	Genic enhancers	Fetal Intestine Small	intestine
47	chr13:111108200-111108800	Enhancers	Stomach Mucosa	stomach
48	chr13:111108200-111108800	Enhancers	K562	blood
49	chr13:111108200-111108800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr13:111108200-111108800	Enhancers	NHEK	skin

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