Variant report

Variant	rs4252633
Chromosome Location	chr17:37872035-37872036
allele	G/T
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:7)
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	ZNF263	chr17:37871450-37872180	HEK293-T-REx	kidney:	n/a	n/a
2	ZNF263	chr17:37871433-37872078	K562	blood:	n/a	n/a
3	POLR2A	chr17:37871996-37872396	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37871866..37874609-chr17:37884182..37887614,4	MCF-7	breast:
2	chr17:37854757..37859429-chr17:37870382..37874180,6	K562	blood:
3	chr17:37867857..37869588-chr17:37870435..37872270,2	K562	blood:
4	chr17:37870160..37872163-chr17:37881073..37883081,3	K562	blood:
5	chr17:37869068..37872163-chr17:37881073..37883703,3	K562	blood:
6	chr17:37871119..37873027-chr17:37873590..37876087,2	K562	blood:
7	chr17:37860257..37864274-chr17:37871854..37875164,5	MCF-7	breast:

No data

Variant related genes	Relation type
ERBB2	TF binding region
ENSG00000141741	Chromatin interaction
ENSG00000141736	Chromatin interaction
ENSG00000265178	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs4252610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4252616	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4252662	1.00[AMR][1000 genomes]
rs61744726	0.89[AFR][1000 genomes]
rs7220943	0.94[LWK][hapmap]
rs9891194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv833443	chr17:37725640-37882864	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
4	esv1792029	chr17:37797757-37886460	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv1056234	chr17:37862605-37909988	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv908216	chr17:37863015-37879588	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	nsv908217	chr17:37863708-37879588	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv574993	chr17:37866135-37880978	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	nsv908218	chr17:37866591-37879588	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv1829991	chr17:37869192-37876898	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37858000-37885200	Weak transcription	Fetal Brain Male	brain
2	chr17:37858000-37885600	Weak transcription	Hela-S3	cervix
3	chr17:37858200-37882600	Weak transcription	NHDF-Ad	bronchial
4	chr17:37858400-37879600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr17:37859400-37881000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr17:37861400-37883600	Weak transcription	Brain Substantia Nigra	brain
7	chr17:37862200-37877000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
8	chr17:37862200-37885200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr17:37862400-37876800	Strong transcription	HepG2	liver
10	chr17:37862400-37877600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr17:37862400-37878800	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr17:37862400-37885400	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr17:37862400-37885600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:37862400-37885600	Strong transcription	Fetal Stomach	stomach
15	chr17:37862400-37885800	Weak transcription	Right Atrium	heart
16	chr17:37862600-37885600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr17:37862800-37878800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:37862800-37883200	Weak transcription	Small Intestine	intestine
19	chr17:37862800-37885600	Strong transcription	Fetal Intestine Large	intestine
20	chr17:37863000-37872400	Strong transcription	Stomach Smooth Muscle	stomach
21	chr17:37863000-37873800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr17:37863000-37876600	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr17:37863000-37877000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:37863000-37878800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr17:37863000-37879000	Strong transcription	HSMMtube	muscle
26	chr17:37863000-37879600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr17:37863000-37885600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr17:37863200-37876800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr17:37863200-37879400	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr17:37863200-37885600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:37863200-37885800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr17:37863400-37876200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:37863400-37876800	Strong transcription	Osteobl	bone
34	chr17:37863600-37883000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr17:37863600-37885600	Strong transcription	Fetal Intestine Small	intestine
36	chr17:37863800-37872200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr17:37863800-37881000	Weak transcription	Thymus	Thymus
38	chr17:37863800-37881200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr17:37864000-37872200	Strong transcription	Duodenum Mucosa	Duodenum
40	chr17:37864000-37872200	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr17:37864200-37873800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr17:37864600-37873600	Strong transcription	Colon Smooth Muscle	Colon
43	chr17:37864600-37882200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr17:37864800-37883400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr17:37865000-37884800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr17:37865800-37884200	Weak transcription	Brain Angular Gyrus	brain
47	chr17:37866000-37885000	Weak transcription	Primary B cells from cord blood	blood
48	chr17:37866200-37879400	Strong transcription	Placenta	Placenta
49	chr17:37866600-37879600	Weak transcription	Fetal Brain Female	brain
50	chr17:37866800-37876800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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