Variant report

Variant	rs8074191
Chromosome Location	chr17:17407191-17407192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:17406973-17407505	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17403140..17409448-chr17:17410177..17415726,8	K562	blood:
2	chr17:17405820..17407609-chr17:17411201..17413921,2	MCF-7	breast:
3	chr17:17254871..17257854-chr17:17406200..17408838,2	K562	blood:
4	chr17:17396995..17404908-chr17:17406815..17414609,13	MCF-7	breast:
5	chr17:17404221..17407416-chr17:17410177..17412032,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265511	TF binding region
ENSG00000265511	Chromatin interaction
ENSG00000108551	Chromatin interaction
ENSG00000133027	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11652200	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1242490	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[GIH][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1242498	1.00[CHB][hapmap];0.82[MEX][hapmap];0.81[EUR][1000 genomes]
rs1242499	0.80[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.86[MEX][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes]
rs1242500	0.80[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes]
rs1242501	0.80[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.82[EUR][1000 genomes]
rs1242502	0.80[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes]
rs1242511	0.80[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap]
rs1242514	0.80[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1242515	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[GIH][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1242517	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1242518	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1263507	0.80[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap]
rs1263509	0.82[EUR][1000 genomes]
rs12938634	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1918249	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2232831	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2660836	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2694920	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2694926	0.80[CEU][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes]
rs2694927	0.80[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes]
rs28435349	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3816511	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4479310	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];0.83[LWK][hapmap];0.87[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4646408	0.94[ASW][hapmap];0.85[CEU][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4646410	0.94[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4924755	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap]
rs4924868	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4924877	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4924890	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4924891	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs711352	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7219976	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7220132	0.88[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap];0.92[TSI][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7220217	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7946	0.85[CEU][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8074074	0.94[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];0.95[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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	nsv907729	chr17:17338536-17425279	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv907730	chr17:17358004-17415217	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	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
5	nsv907732	chr17:17381764-17415217	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv907733	chr17:17381764-17422608	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv907734	chr17:17381764-17425858	Enhancers Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv907737	chr17:17388167-17411030	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv907738	chr17:17404586-17422608	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv907739	chr17:17404586-17424333	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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
13	nsv907740	chr17:17404586-17425858	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active 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
14	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
15	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
16	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
17	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8074191	TNFRSF13B	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17399600-17413800	Weak transcription	Dnd41	blood
2	chr17:17400600-17409800	Weak transcription	Esophagus	oesophagus
3	chr17:17400600-17410000	Weak transcription	Liver	Liver
4	chr17:17400600-17415200	Weak transcription	Ovary	ovary
5	chr17:17400600-17422000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr17:17400800-17409000	Weak transcription	Right Ventricle	heart
7	chr17:17400800-17413000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr17:17400800-17419200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr17:17401000-17411200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr17:17401000-17418800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr17:17401000-17425400	Weak transcription	Thymus	Thymus
12	chr17:17401200-17411000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr17:17401200-17415200	Weak transcription	Gastric	stomach
14	chr17:17401600-17409200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr17:17402200-17408200	Weak transcription	Fetal Intestine Small	intestine
16	chr17:17405600-17408800	Enhancers	Fetal Muscle Leg	muscle
17	chr17:17405600-17412000	Enhancers	Fetal Muscle Trunk	muscle
18	chr17:17405800-17413200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:17406000-17408400	Enhancers	Fetal Brain Male	brain
20	chr17:17406200-17407400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr17:17406200-17415800	Enhancers	Fetal Heart	heart
22	chr17:17406400-17407400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr17:17406600-17408400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:17406600-17409000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr17:17406600-17414600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr17:17406800-17407600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr17:17406800-17407800	Enhancers	Brain Germinal Matrix	brain
28	chr17:17406800-17408000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr17:17406800-17408200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr17:17406800-17410600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:17407000-17407200	Enhancers	Brain Hippocampus Middle	brain
32	chr17:17407000-17407400	Enhancers	Fetal Stomach	stomach
33	chr17:17407000-17407800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr17:17407000-17407800	Weak transcription	Brain Angular Gyrus	brain
35	chr17:17407000-17408000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr17:17407000-17408000	Enhancers	Brain Cingulate Gyrus	brain
37	chr17:17407000-17408000	Enhancers	Fetal Brain Female	brain
38	chr17:17407000-17408800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links