Variant report

Variant	rs16943295
Chromosome Location	chr17:46795829-46795830
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr17:46795587-46796045	H1-hESC	embryonic stem cell:	n/a	n/a
2	TCF12	chr17:46795559-46795839	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr17:46795583-46797345	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr17:46795576-46796007	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr17:46795339-46795956	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr17:46795320-46802616	SK-N-MC	brain:	n/a	n/a
7	EGR1	chr17:46795771-46796197	H1-hESC	embryonic stem cell:	n/a	chr17:46796035-46796046 chr17:46796034-46796047 chr17:46795929-46795939
8	SP1	chr17:46795602-46796451	H1-hESC	embryonic stem cell:	n/a	chr17:46795865-46795874 chr17:46795861-46795875 chr17:46795864-46795876

Variant related genes	Relation type
PRAC2	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12103773	0.85[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs12150590	0.83[ASN][1000 genomes]
rs12150596	0.85[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs1879109	0.85[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs1879110	0.85[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs2411796	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2411802	0.83[ASN][1000 genomes]
rs3809773	0.83[ASN][1000 genomes]
rs4239159	0.86[ASN][1000 genomes]
rs4793973	1.00[CHB][hapmap];0.83[AFR][1000 genomes]
rs4793979	0.82[CHB][hapmap]
rs4793980	0.83[EUR][1000 genomes]
rs62065367	0.86[EUR][1000 genomes]
rs6504508	0.83[ASN][1000 genomes]
rs7211412	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs7215226	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs7215321	0.83[ASN][1000 genomes]
rs9907753	0.83[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	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
2	nsv532113	chr17:46598247-47588570	Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	453 gene(s)	inside rSNPs	diseases
3	esv2758459	chr17:46602673-46836837	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
4	esv2758694	chr17:46602673-46836837	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46793800-46798200	Weak transcription	A549	lung
2	chr17:46794800-46798200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
3	chr17:46795000-46796200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr17:46795000-46801000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
5	chr17:46795200-46797400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr17:46795400-46796800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr17:46795400-46797000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr17:46795600-46796000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr17:46795600-46796200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr17:46795600-46796200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
11	chr17:46795600-46796400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
12	chr17:46795600-46796600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr17:46795600-46796600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
14	chr17:46795600-46796600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
15	chr17:46795600-46796800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr17:46795600-46796800	Bivalent Enhancer	Colonic Mucosa	Colon
17	chr17:46795600-46797000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr17:46795600-46797000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
19	chr17:46795600-46797000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr17:46795600-46797400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr17:46795600-46797400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
22	chr17:46795600-46797400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr17:46795600-46797600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr17:46795600-46797600	Bivalent/Poised TSS	Small Intestine	intestine
25	chr17:46795600-46797800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
26	chr17:46795600-46797800	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
27	chr17:46795600-46802000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
28	chr17:46795800-46796000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:46795800-46796000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
30	chr17:46795800-46796000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
31	chr17:46795800-46796000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
32	chr17:46795800-46796000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
33	chr17:46795800-46796000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
34	chr17:46795800-46796000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr17:46795800-46796000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr17:46795800-46796000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr17:46795800-46796000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
38	chr17:46795800-46796000	Bivalent Enhancer	Placenta	Placenta
39	chr17:46795800-46796000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
40	chr17:46795800-46796000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
41	chr17:46795800-46796000	Bivalent Enhancer	Thymus	Thymus
42	chr17:46795800-46796200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
43	chr17:46795800-46796200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
44	chr17:46795800-46796200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr17:46795800-46796200	Bivalent Enhancer	Esophagus	oesophagus
46	chr17:46795800-46796400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
47	chr17:46795800-46796400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr17:46795800-46796400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
49	chr17:46795800-46796400	Bivalent Enhancer	Gastric	stomach
50	chr17:46795800-46796600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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