Variant report

Variant	rs73985445
Chromosome Location	chr17:46023160-46023161
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:8)
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	chr17:46020199-46023291	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr17:46023068-46023614	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45995492..45998307-chr17:46023078..46025129,2	MCF-7	breast:
2	chr17:45970281..45975378-chr17:46022719..46027732,11	MCF-7	breast:
3	chr17:46023026..46029175-chr17:46044937..46051234,10	K562	blood:
4	chr17:46008254..46011151-chr17:46023044..46026189,3	MCF-7	breast:
5	chr17:45968434..45977260-chr17:46017847..46029594,27	MCF-7	breast:
6	chr17:46021116..46023804-chr17:46125669..46127456,2	K562	blood:
7	chr17:45920330..45920951-chr17:46023036..46023982,2	MCF-7	breast:
8	chr17:45976149..45977762-chr17:46023014..46025634,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234494	TF binding region
ENSG00000167182	Chromatin interaction
ENSG00000264920	Chromatin interaction
ENSG00000082641	Chromatin interaction
ENSG00000266601	Chromatin interaction
ENSG00000108465	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2525089	1.00[ASN][1000 genomes]
rs2525099	1.00[ASN][1000 genomes]
rs2525100	1.00[ASN][1000 genomes]
rs2597167	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597176	1.00[ASN][1000 genomes]
rs2923063	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56947799	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60163848	1.00[ASN][1000 genomes]
rs61521088	1.00[ASN][1000 genomes]
rs73321620	1.00[ASN][1000 genomes]
rs73321625	1.00[ASN][1000 genomes]
rs73321628	1.00[ASN][1000 genomes]
rs73321689	1.00[ASN][1000 genomes]
rs73985431	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv908575	chr17:45957591-46049533	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
4	esv1000014	chr17:46019228-46029457	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46019600-46027000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:46019800-46023400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:46019800-46024000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr17:46019800-46024800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr17:46019800-46025600	Weak transcription	HSMM	muscle
6	chr17:46019800-46026800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:46019800-46026800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr17:46019800-46026800	Weak transcription	Brain Germinal Matrix	brain
9	chr17:46019800-46026800	Weak transcription	HSMMtube	muscle
10	chr17:46019800-46027400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr17:46019800-46034200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr17:46019800-46047600	Weak transcription	Aorta	Aorta
13	chr17:46020000-46024000	Weak transcription	Colon Smooth Muscle	Colon
14	chr17:46020000-46024400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr17:46020000-46026000	Weak transcription	Fetal Heart	heart
16	chr17:46020000-46026200	Weak transcription	Fetal Kidney	kidney
17	chr17:46020000-46026400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr17:46020000-46026400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr17:46020000-46026400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr17:46020000-46026800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr17:46020000-46026800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr17:46020000-46027000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr17:46020000-46034600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr17:46020200-46026000	Weak transcription	NHDF-Ad	bronchial
25	chr17:46020200-46026200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr17:46020200-46026200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr17:46020200-46026800	Weak transcription	HUVEC	blood vessel
28	chr17:46020400-46023600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr17:46020600-46024800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr17:46020800-46024200	Strong transcription	NHEK	skin
31	chr17:46020800-46024400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr17:46020800-46024800	Genic enhancers	Osteobl	bone
33	chr17:46020800-46025800	Genic enhancers	HepG2	liver
34	chr17:46021000-46024200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr17:46021000-46024200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr17:46021000-46024800	Strong transcription	Dnd41	blood
37	chr17:46021000-46024800	Genic enhancers	GM12878-XiMat	blood
38	chr17:46021200-46023400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr17:46021200-46023400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr17:46021200-46023800	Enhancers	Stomach Mucosa	stomach
41	chr17:46021200-46024000	Strong transcription	Lung	lung
42	chr17:46021200-46024200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:46021200-46024200	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr17:46021400-46023200	Strong transcription	Fetal Intestine Large	intestine
45	chr17:46021400-46023200	Strong transcription	Fetal Intestine Small	intestine
46	chr17:46021400-46024000	Strong transcription	K562	blood
47	chr17:46021400-46024200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr17:46021600-46024200	Strong transcription	Fetal Stomach	stomach
49	chr17:46021600-46024600	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr17:46021600-46026200	Strong transcription	Sigmoid Colon	Sigmoid Colon

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