Variant report

Variant	rs4244594
Chromosome Location	chr17:17429927-17429928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17398028..17400526-chr17:17429314..17431940,2	MCF-7	breast:
2	chr17:17419916..17424407-chr17:17429833..17432704,4	K562	blood:

Variant related genes	Relation type
ENSG00000108551	Chromatin interaction
ENSG00000133027	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1109859	0.85[JPT][hapmap]
rs12935886	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2168345	0.89[EUR][1000 genomes]
rs4244592	0.89[EUR][1000 genomes]
rs4244593	0.89[EUR][1000 genomes]
rs4646390	0.84[EUR][1000 genomes]
rs4646397	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4646402	0.89[EUR][1000 genomes]
rs4646405	0.86[EUR][1000 genomes]
rs4924922	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs746899	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs747770	0.83[EUR][1000 genomes]
rs8080165	0.84[EUR][1000 genomes]
rs9892560	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9894321	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9894588	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv907735	chr17:17381764-17448589	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv907736	chr17:17381764-17465458	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv907741	chr17:17404586-17429927	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv907742	chr17:17404586-17432744	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv907743	chr17:17404586-17448589	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv907744	chr17:17404586-17504856	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv907745	chr17:17411211-17429927	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv907746	chr17:17412032-17478917	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv907747	chr17:17412032-17504856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
13	nsv523094	chr17:17415217-17430649	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv907749	chr17:17417169-17448589	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv524158	chr17:17420199-17430649	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv574526	chr17:17422608-17444369	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv470579	chr17:17424332-17493810	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17413200-17437400	Weak transcription	Aorta	Aorta
2	chr17:17418200-17478000	Weak transcription	Primary T cells from cord blood	blood
3	chr17:17419400-17430800	Weak transcription	Placenta	Placenta
4	chr17:17419600-17447000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr17:17420600-17434400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr17:17421000-17439200	Weak transcription	HSMM	muscle
7	chr17:17424600-17460000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:17425000-17430800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr17:17425000-17431200	Weak transcription	Spleen	Spleen
10	chr17:17427000-17436200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr17:17427200-17440600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:17427400-17432400	Weak transcription	HepG2	liver
13	chr17:17427600-17432800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr17:17427600-17434400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr17:17427800-17431400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr17:17428200-17433200	Enhancers	Fetal Muscle Leg	muscle
17	chr17:17428400-17430000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:17428400-17430800	Enhancers	Fetal Muscle Trunk	muscle
19	chr17:17428400-17432600	Enhancers	Adipose Nuclei	Adipose
20	chr17:17428600-17430000	Enhancers	Esophagus	oesophagus
21	chr17:17428600-17430200	Enhancers	Brain Cingulate Gyrus	brain
22	chr17:17428600-17430200	Enhancers	Stomach Mucosa	stomach
23	chr17:17428600-17430400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr17:17428600-17430400	Enhancers	Ovary	ovary
25	chr17:17428600-17433800	Enhancers	Liver	Liver
26	chr17:17428800-17430000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr17:17428800-17430000	Enhancers	Duodenum Mucosa	Duodenum
28	chr17:17429000-17430000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr17:17429000-17430000	Weak transcription	Fetal Thymus	thymus
30	chr17:17429000-17431000	Weak transcription	Gastric	stomach
31	chr17:17429000-17431200	Weak transcription	Right Atrium	heart
32	chr17:17429200-17430200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr17:17429200-17430600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr17:17429400-17430000	Enhancers	Brain Anterior Caudate	brain
35	chr17:17429400-17430000	Enhancers	Left Ventricle	heart
36	chr17:17429400-17430000	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr17:17429400-17430000	Enhancers	Rectal Smooth Muscle	rectum
38	chr17:17429400-17430200	Enhancers	Lung	lung
39	chr17:17429400-17430400	Enhancers	Fetal Lung	lung
40	chr17:17429400-17432200	Enhancers	Fetal Stomach	stomach
41	chr17:17429400-17433200	Enhancers	Fetal Heart	heart
42	chr17:17429600-17430000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr17:17429600-17430200	Enhancers	Pancreas	Pancrea
44	chr17:17429600-17430200	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr17:17429600-17430400	Enhancers	Brain Germinal Matrix	brain
46	chr17:17429600-17430400	Enhancers	Colon Smooth Muscle	Colon
47	chr17:17429600-17430400	Enhancers	Psoas Muscle	Psoas
48	chr17:17429600-17430400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr17:17429600-17431200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr17:17429800-17430000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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