Variant report

Variant	rs73619404
Chromosome Location	chr13:111109995-111109996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:111109886-111110009	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr13:111109843-111110062	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr13:111104435..111110355-chr13:111364229..111367898,5	MCF-7	breast:
2	chr13:111108605..111110640-chr13:111363694..111365787,2	MCF-7	breast:
3	chr13:111106451..111110358-chr13:111364193..111366968,4	K562	blood:
4	chr13:111107847..111110592-chr13:111111239..111113236,3	MCF-7	breast:

No data

Variant related genes	Relation type
COL4A2	TF binding region
ENSG00000153487	Chromatin interaction
ENSG00000134905	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57000313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73617520	1.00[AMR][1000 genomes]
rs73617587	1.00[AMR][1000 genomes]
rs73619431	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	esv3335695	chr13:111108651-111110599	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

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	chr13:111099000-111123400	Strong transcription	Fetal Muscle Trunk	muscle
4	chr13:111099800-111116400	Strong transcription	Fetal Muscle Leg	muscle
5	chr13:111100000-111120000	Weak transcription	Pancreas	Pancrea
6	chr13:111100400-111118200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr13:111101600-111130200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:111101800-111127800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr13:111102200-111122000	Strong transcription	Placenta	Placenta
10	chr13:111103600-111112000	Weak transcription	HSMMtube	muscle
11	chr13:111103800-111125600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:111104200-111111600	Weak transcription	Fetal Lung	lung
13	chr13:111104400-111111400	Weak transcription	HSMM	muscle
14	chr13:111105800-111138000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:111106200-111110400	Strong transcription	Adipose Nuclei	Adipose
16	chr13:111106400-111115200	Weak transcription	Fetal Kidney	kidney
17	chr13:111106600-111111800	Strong transcription	Aorta	Aorta
18	chr13:111106600-111112400	Strong transcription	NHLF	lung
19	chr13:111106800-111110600	Strong transcription	Lung	lung
20	chr13:111107000-111111600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr13:111107400-111110200	Weak transcription	HUVEC	blood vessel
22	chr13:111107400-111114600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr13:111107600-111118000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:111107600-111130400	Weak transcription	Right Atrium	heart
25	chr13:111108200-111110000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr13:111108200-111129200	Strong transcription	Right Ventricle	heart
27	chr13:111108200-111138400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr13:111108400-111110000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr13:111108400-111110400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr13:111108400-111110800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr13:111108400-111113800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:111108400-111126800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr13:111108600-111110000	Weak transcription	HMEC	breast
34	chr13:111108600-111114600	Weak transcription	Gastric	stomach
35	chr13:111108600-111118600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr13:111108600-111127000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr13:111108600-111138200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr13:111108600-111149200	Strong transcription	Fetal Stomach	stomach
39	chr13:111108600-111150600	Weak transcription	NHDF-Ad	bronchial
40	chr13:111108800-111110000	Weak transcription	NH-A	brain
41	chr13:111108800-111111000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr13:111108800-111111200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr13:111108800-111111200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr13:111108800-111111400	Weak transcription	K562	blood
45	chr13:111108800-111111600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr13:111108800-111112400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr13:111108800-111117200	Weak transcription	Fetal Brain Male	brain
48	chr13:111108800-111118000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr13:111108800-111118000	Weak transcription	Fetal Brain Female	brain
50	chr13:111108800-111118200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links