Variant report

Variant	rs11974387
Chromosome Location	chr7:107147530-107147531
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107144788..107149242-chr7:107202871..107206314,6	MCF-7	breast:
2	chr7:107136433..107141065-chr7:107144603..107148150,5	MCF-7	breast:
3	chr7:107132036..107135481-chr7:107143415..107147537,5	K562	blood:
4	chr7:107145414..107147873-chr7:107202441..107205891,5	MCF-7	breast:
5	chr7:107133036..107135324-chr7:107145398..107148368,3	MCF-7	breast:
6	chr7:107143924..107148910-chr7:107218443..107222194,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164597	Chromatin interaction
ENSG00000105865	Chromatin interaction
ENSG00000272854	Chromatin interaction
ENSG00000075790	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10242151	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1024400	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10244682	0.84[ASN][1000 genomes]
rs10247870	0.81[ASN][1000 genomes]
rs10248056	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10251350	0.81[ASN][1000 genomes]
rs10258419	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10260092	0.81[ASN][1000 genomes]
rs10277303	1.00[EUR][1000 genomes]
rs2299429	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3753114	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3801957	0.84[ASN][1000 genomes]
rs57384395	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61115046	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61448014	0.81[ASN][1000 genomes]
rs61557716	0.81[ASN][1000 genomes]
rs67485259	0.81[ASN][1000 genomes]
rs9918725	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024793	chr7:106900877-107170312	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv1019963	chr7:107033342-107188641	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv539052	chr7:107033342-107188641	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv482365	chr7:107122401-107271861	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107123200-107155800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr7:107123600-107166200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr7:107126800-107184800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:107127400-107175400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr7:107130800-107163400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:107131400-107179800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:107131800-107175000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr7:107136000-107165800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr7:107136200-107148000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:107137000-107166200	Weak transcription	K562	blood
11	chr7:107138400-107149200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:107141000-107148200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:107141600-107166000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:107142000-107167000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:107142200-107147800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:107144000-107149200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:107144400-107148200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:107144400-107162000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr7:107144400-107166400	Weak transcription	NH-A	brain
20	chr7:107144600-107148200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:107144600-107148200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:107144800-107185000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:107145400-107147600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr7:107145600-107147600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:107145600-107147600	Enhancers	Pancreas	Pancrea
26	chr7:107145800-107147600	Enhancers	Esophagus	oesophagus
27	chr7:107145800-107147600	Enhancers	Placenta	Placenta
28	chr7:107145800-107147600	Enhancers	Left Ventricle	heart
29	chr7:107145800-107147600	Enhancers	HMEC	breast
30	chr7:107146000-107147800	Enhancers	Stomach Mucosa	stomach
31	chr7:107146000-107148200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:107146000-107185000	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:107146200-107147600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:107146200-107147600	Enhancers	Lung	lung
35	chr7:107146200-107147600	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr7:107146200-107148200	Enhancers	NHEK	skin
37	chr7:107146400-107147600	Enhancers	Duodenum Mucosa	Duodenum
38	chr7:107146400-107147600	Enhancers	Fetal Intestine Large	intestine
39	chr7:107146400-107147600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr7:107146400-107147600	Enhancers	Hela-S3	cervix
41	chr7:107146400-107149200	Weak transcription	Primary B cells from cord blood	blood
42	chr7:107146400-107149200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr7:107146400-107183800	Weak transcription	Ovary	ovary
44	chr7:107146400-107183800	Weak transcription	Thymus	Thymus
45	chr7:107146400-107184000	Weak transcription	Aorta	Aorta
46	chr7:107146600-107147600	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr7:107146600-107147600	Enhancers	Psoas Muscle	Psoas
48	chr7:107146600-107147600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr7:107146600-107147800	Enhancers	Fetal Heart	heart
50	chr7:107146600-107163800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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