Variant report

Variant	rs17136074
Chromosome Location	chr7:102458296-102458297
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	POLR2A	chr7:102457741-102458364	K562	blood:	n/a	n/a

Variant related genes	Relation type
FBXL13	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10239162	1.00[EUR][1000 genomes]
rs10487282	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11557393	0.92[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes]
rs17135892	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17135896	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17135898	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17135912	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes]
rs17136084	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17136087	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17136100	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17136106	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17136118	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17136121	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17136125	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17136131	1.00[CHB][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2228687	0.89[JPT][hapmap]
rs2411057	0.92[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes]
rs41438745	0.92[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap]
rs61047356	1.00[EUR][1000 genomes]
rs6963884	1.00[MEX][hapmap]
rs7810924	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs917332	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs917333	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs979936	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv1025363	chr7:102072448-102471485	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	esv2761100	chr7:102335787-102481978	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
7	nsv470382	chr7:102375663-102538515	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv608057	chr7:102440184-102538515	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102416400-102467600	Weak transcription	Brain Anterior Caudate	brain
2	chr7:102421600-102475600	Weak transcription	Fetal Thymus	thymus
3	chr7:102422000-102474800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:102422000-102476000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:102439000-102459600	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:102439600-102467400	Weak transcription	Thymus	Thymus
7	chr7:102439800-102463800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:102443800-102459600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:102444400-102463200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:102445600-102467600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:102445600-102469200	Weak transcription	Fetal Brain Male	brain
12	chr7:102445800-102467400	Weak transcription	Lung	lung
13	chr7:102446200-102467400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr7:102447000-102469400	Weak transcription	Brain Angular Gyrus	brain
15	chr7:102447200-102467400	Weak transcription	Primary B cells from cord blood	blood
16	chr7:102447200-102469400	Weak transcription	Fetal Brain Female	brain
17	chr7:102447400-102462600	Weak transcription	Fetal Intestine Large	intestine
18	chr7:102447400-102477200	Weak transcription	Psoas Muscle	Psoas
19	chr7:102447800-102459400	Weak transcription	Gastric	stomach
20	chr7:102447800-102459600	Weak transcription	Spleen	Spleen
21	chr7:102447800-102459800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:102447800-102467400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:102447800-102473000	Weak transcription	Placenta	Placenta
24	chr7:102448000-102469200	Weak transcription	Right Ventricle	heart
25	chr7:102448000-102479000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:102448200-102470800	Weak transcription	Small Intestine	intestine
27	chr7:102448400-102471800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr7:102449400-102467400	Weak transcription	Left Ventricle	heart
29	chr7:102449400-102467600	Weak transcription	Fetal Muscle Leg	muscle
30	chr7:102449600-102463200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:102449600-102467400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr7:102449600-102469400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr7:102450000-102475000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:102450200-102475600	Weak transcription	Esophagus	oesophagus
35	chr7:102452000-102463200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr7:102452000-102480000	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:102452200-102467400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr7:102452200-102472800	Weak transcription	HSMMtube	muscle
39	chr7:102452400-102469400	Weak transcription	Adipose Nuclei	Adipose
40	chr7:102453000-102462400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:102453800-102458600	Strong transcription	K562	blood
42	chr7:102454000-102467800	Weak transcription	Fetal Kidney	kidney
43	chr7:102454200-102460000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:102454200-102462200	Weak transcription	Primary T cells from cord blood	blood
45	chr7:102454200-102463400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr7:102454200-102469400	Weak transcription	HepG2	liver
47	chr7:102454200-102484600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr7:102454400-102459000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:102454400-102469600	Weak transcription	Aorta	Aorta
50	chr7:102454400-102475000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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