Variant report

Variant	rs17161239
Chromosome Location	chr7:139615167-139615168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:139550951..139553349-chr7:139614686..139616321,2	K562	blood:
2	chr7:139614506..139616528-chr7:139619722..139621611,2	MCF-7	breast:
3	chr7:139560610..139563132-chr7:139613591..139615193,2	K562	blood:
4	chr7:139607014..139608551-chr7:139612909..139615880,2	K562	blood:
5	chr7:139614469..139616397-chr7:139665107..139667475,2	K562	blood:
6	chr7:139586458..139589316-chr7:139614589..139616805,2	K562	blood:
7	chr7:139609932..139611578-chr7:139613494..139615788,2	MCF-7	breast:
8	chr7:139598082..139600623-chr7:139614374..139616919,2	K562	blood:
9	chr7:139609132..139615823-chr7:139616902..139621625,10	K562	blood:
10	chr7:139608918..139612096-chr7:139612765..139616269,8	K562	blood:
11	chr7:139612773..139615272-chr7:139618584..139621625,3	K562	blood:
12	chr7:139584185..139586442-chr7:139614937..139617352,2	K562	blood:
13	chr7:139614974..139617171-chr7:139678956..139681260,2	K562	blood:
14	chr7:139605098..139607910-chr7:139614659..139616378,2	K562	blood:
15	chr7:139614831..139616471-chr7:139701068..139703732,2	K562	blood:
16	chr7:139614806..139616915-chr7:139674310..139676178,2	K562	blood:
17	chr7:139614916..139618686-chr7:139627017..139630636,4	K562	blood:

No data

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17133482	0.83[EUR][1000 genomes]
rs17161190	0.85[GIH][hapmap]
rs17161198	0.85[GIH][hapmap]
rs17161200	0.85[GIH][hapmap]
rs17161201	0.85[GIH][hapmap]
rs17161202	0.85[GIH][hapmap];0.90[EUR][1000 genomes]
rs17161224	1.00[ASW][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs17161226	0.90[EUR][1000 genomes]
rs17161252	0.86[ASW][hapmap]
rs17161272	0.83[EUR][1000 genomes]
rs17161282	0.83[EUR][1000 genomes]
rs1859568	0.85[GIH][hapmap];0.90[EUR][1000 genomes]
rs2158667	0.83[EUR][1000 genomes]
rs2267691	1.00[YRI][hapmap]
rs58772144	0.90[EUR][1000 genomes]
rs73734134	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1019001	chr7:139558216-139841268	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS 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	15 gene(s)	inside rSNPs	diseases
9	nsv889245	chr7:139599229-139657221	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139607000-139615400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:139608600-139615200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr7:139608800-139615600	Strong transcription	Primary hematopoietic stem cells	blood
4	chr7:139609200-139615200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:139609800-139615800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:139609800-139621800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:139612200-139615400	Strong transcription	Fetal Thymus	thymus
8	chr7:139612400-139615400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:139612400-139618000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:139612600-139615400	Strong transcription	Primary B cells from cord blood	blood
11	chr7:139612600-139617400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:139612800-139615400	Strong transcription	Primary T cells from cord blood	blood
13	chr7:139612800-139617400	Enhancers	NHLF	lung
14	chr7:139612800-139617600	Enhancers	NHDF-Ad	bronchial
15	chr7:139613400-139615200	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:139613400-139616000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:139613400-139616000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr7:139613600-139616200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr7:139613600-139617200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:139613800-139615800	Enhancers	Osteobl	bone
21	chr7:139613800-139616200	Enhancers	HSMM	muscle
22	chr7:139613800-139617600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr7:139613800-139629800	Weak transcription	Spleen	Spleen
24	chr7:139614000-139616200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:139614000-139616800	Enhancers	Fetal Stomach	stomach
26	chr7:139614000-139617200	Enhancers	HUVEC	blood vessel
27	chr7:139614000-139617200	Enhancers	NH-A	brain
28	chr7:139614000-139617400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:139614000-139617600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:139614000-139618600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:139614200-139615600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr7:139614200-139615800	Enhancers	GM12878-XiMat	blood
33	chr7:139614200-139616000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:139614200-139616000	Enhancers	Hela-S3	cervix
35	chr7:139614200-139616000	Enhancers	NHEK	skin
36	chr7:139614200-139618000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:139614200-139618200	Enhancers	HMEC	breast
38	chr7:139614200-139619600	Enhancers	HSMMtube	muscle
39	chr7:139614400-139615600	Weak transcription	Adipose Nuclei	Adipose
40	chr7:139614400-139615600	Flanking Active TSS	A549	lung
41	chr7:139614400-139616200	Enhancers	Fetal Lung	lung
42	chr7:139614400-139616600	Enhancers	Fetal Heart	heart
43	chr7:139614400-139617000	Enhancers	Stomach Mucosa	stomach
44	chr7:139614400-139618400	Enhancers	Duodenum Mucosa	Duodenum
45	chr7:139614600-139615200	Weak transcription	Esophagus	oesophagus
46	chr7:139614600-139615200	Weak transcription	Placenta	Placenta
47	chr7:139614600-139615400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:139614600-139615400	Weak transcription	Gastric	stomach
49	chr7:139614600-139615400	Weak transcription	Lung	lung
50	chr7:139614600-139615400	Weak transcription	Pancreas	Pancrea

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