Variant report

Variant	rs1634270
Chromosome Location	chr17:45193957-45193958
allele	C/G
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	POLR2A	chr17:45190767-45195015	K562	blood:	n/a	n/a
2	ZNF384	chr17:45193824-45194214	K562	blood:	n/a	n/a
3	JUND	chr17:45193944-45194201	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000221016	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11079743	1.00[EUR][1000 genomes]
rs1625900	1.00[EUR][1000 genomes]
rs1638447	1.00[EUR][1000 genomes]
rs1638449	1.00[EUR][1000 genomes]
rs1662595	1.00[EUR][1000 genomes]
rs1662598	1.00[EUR][1000 genomes]
rs183199	1.00[EUR][1000 genomes]
rs197921	1.00[EUR][1000 genomes]
rs197933	1.00[EUR][1000 genomes]
rs197934	1.00[EUR][1000 genomes]
rs197940	1.00[EUR][1000 genomes]
rs2018281	1.00[EUR][1000 genomes]
rs2108922	1.00[EUR][1000 genomes]
rs221600	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28740955	1.00[EUR][1000 genomes]
rs3744452	1.00[EUR][1000 genomes]
rs3851783	1.00[EUR][1000 genomes]
rs4083002	1.00[EUR][1000 genomes]
rs4968289	1.00[EUR][1000 genomes]
rs7211075	1.00[EUR][1000 genomes]
rs7221149	1.00[EUR][1000 genomes]
rs73329161	1.00[EUR][1000 genomes]
rs8064340	1.00[EUR][1000 genomes]
rs8064568	1.00[EUR][1000 genomes]
rs8071980	1.00[EUR][1000 genomes]
rs8078556	1.00[EUR][1000 genomes]
rs8080767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8081202	1.00[EUR][1000 genomes]
rs858674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs908360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9893406	1.00[EUR][1000 genomes]
rs9893495	1.00[EUR][1000 genomes]
rs9910543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9915693	1.00[AMR][1000 genomes];1.00[EUR][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	nsv833466	chr17:45020360-45204537	Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv3332795	chr17:45116212-45209297	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	esv3386521	chr17:45116232-45209267	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1059766	chr17:45130765-45203468	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	esv2760450	chr17:45130777-45225222	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv521632	chr17:45151549-45196190	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv908563	chr17:45158537-45230311	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv962456	chr17:45163689-45212872	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45182800-45194000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr17:45183400-45194200	Weak transcription	HSMM	muscle
3	chr17:45183400-45194200	Weak transcription	NHLF	lung
4	chr17:45183400-45197400	Weak transcription	HSMMtube	muscle
5	chr17:45185600-45206400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr17:45186800-45197800	Weak transcription	Fetal Brain Female	brain
7	chr17:45187200-45194200	Weak transcription	Osteobl	bone
8	chr17:45187800-45194400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr17:45188000-45194200	Weak transcription	A549	lung
10	chr17:45188200-45197800	Weak transcription	Hela-S3	cervix
11	chr17:45189000-45196600	Weak transcription	NHDF-Ad	bronchial
12	chr17:45189800-45198000	Weak transcription	Fetal Stomach	stomach
13	chr17:45190000-45203200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr17:45190200-45194000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:45190200-45194000	Weak transcription	Adipose Nuclei	Adipose
16	chr17:45191000-45194200	Weak transcription	HUVEC	blood vessel
17	chr17:45191000-45197200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr17:45191000-45202000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr17:45191200-45197800	Weak transcription	Small Intestine	intestine
20	chr17:45191200-45202600	Weak transcription	Right Ventricle	heart
21	chr17:45191400-45194200	Weak transcription	GM12878-XiMat	blood
22	chr17:45191400-45197200	Weak transcription	Fetal Heart	heart
23	chr17:45191400-45197200	Weak transcription	Fetal Intestine Large	intestine
24	chr17:45191600-45195600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr17:45191600-45196800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr17:45191600-45197600	Weak transcription	HepG2	liver
27	chr17:45191800-45197600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr17:45191800-45198000	Weak transcription	Thymus	Thymus
29	chr17:45192000-45194000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:45192000-45194200	Weak transcription	Dnd41	blood
31	chr17:45192000-45198200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr17:45192200-45194000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr17:45192200-45194000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr17:45192200-45194000	Weak transcription	Fetal Intestine Small	intestine
35	chr17:45192200-45194000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr17:45192200-45194000	Weak transcription	Fetal Muscle Leg	muscle
37	chr17:45192200-45194200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr17:45192200-45194200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr17:45192200-45194200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr17:45192200-45194200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr17:45192200-45194200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr17:45192200-45194200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr17:45192200-45194200	Weak transcription	NH-A	brain
44	chr17:45192200-45198000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr17:45192200-45198000	Weak transcription	Left Ventricle	heart
46	chr17:45192400-45194200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr17:45192400-45194200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr17:45192400-45195400	Weak transcription	Liver	Liver
49	chr17:45192400-45196000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr17:45192400-45196000	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links