Variant report

Variant	rs12671199
Chromosome Location	chr7:107930740-107930741
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107922984..107924582-chr7:107929952..107931901,2	K562	blood:
2	chr7:107930681..107933463-chr7:108038843..108040431,2	MCF-7	breast:
3	chr7:107923634..107926362-chr7:107928616..107931028,3	MCF-7	breast:
4	chr7:107923082..107925361-chr7:107930401..107931906,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10464622	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10464623	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10464625	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10464626	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10464627	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10464628	0.81[EUR][1000 genomes]
rs12665964	0.84[AFR][1000 genomes]
rs12667098	0.81[EUR][1000 genomes]
rs12667131	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12667151	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12667206	0.81[EUR][1000 genomes]
rs12669568	0.85[EUR][1000 genomes]
rs12672376	0.84[EUR][1000 genomes]
rs12674151	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16872448	0.85[EUR][1000 genomes]
rs16872449	0.85[EUR][1000 genomes]
rs16872465	0.85[EUR][1000 genomes]
rs16872472	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16872481	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs17155207	0.85[EUR][1000 genomes]
rs17155253	0.85[EUR][1000 genomes]
rs17155277	0.85[EUR][1000 genomes]
rs17155280	0.85[EUR][1000 genomes]
rs17155301	0.85[EUR][1000 genomes]
rs17155316	0.85[EUR][1000 genomes]
rs17155345	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17155362	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17155369	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2072320	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2272618	0.85[EUR][1000 genomes]
rs2299998	0.85[EUR][1000 genomes]
rs2300001	0.85[EUR][1000 genomes]
rs2300004	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2300005	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2300006	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2300007	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2300008	0.81[EUR][1000 genomes]
rs2300009	0.81[EUR][1000 genomes]
rs2300010	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2300011	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3750140	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3753152	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3817670	0.85[EUR][1000 genomes]
rs55772998	0.85[EUR][1000 genomes]
rs58432175	0.85[EUR][1000 genomes]
rs58523350	0.85[EUR][1000 genomes]
rs58799340	0.85[EUR][1000 genomes]
rs59173255	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60368937	0.89[AMR][1000 genomes]
rs60503554	0.85[EUR][1000 genomes]
rs61040788	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61057696	0.85[EUR][1000 genomes]
rs67456250	0.85[EUR][1000 genomes]
rs67592649	0.85[EUR][1000 genomes]
rs67940074	0.81[EUR][1000 genomes]
rs6956041	0.85[EUR][1000 genomes]
rs6956711	0.85[EUR][1000 genomes]
rs6964394	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6966259	0.85[EUR][1000 genomes]
rs6978117	0.85[EUR][1000 genomes]
rs73199578	0.85[EUR][1000 genomes]
rs73199594	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73199595	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73199599	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73199600	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73201503	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73201504	0.85[EUR][1000 genomes]
rs73201511	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73201512	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73201513	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73201515	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73201518	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs73414373	0.85[EUR][1000 genomes]
rs73727511	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73727512	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs759549	0.92[ASN][1000 genomes]
rs7777092	0.85[EUR][1000 genomes]
rs7777322	0.85[EUR][1000 genomes]
rs7783944	0.85[EUR][1000 genomes]
rs7784319	0.85[EUR][1000 genomes]
rs7784353	0.85[EUR][1000 genomes]
rs7785181	0.85[EUR][1000 genomes]
rs7796457	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9641405	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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	25 gene(s)	inside rSNPs	diseases
3	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv888942	chr7:107893695-108055858	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv888943	chr7:107893695-108058574	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1030425	chr7:107910716-108041036	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107918400-107935000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:107924200-107939600	Weak transcription	Pancreas	Pancrea
3	chr7:107925400-107952000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:107925800-107931200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:107925800-107937400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:107926200-107931000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:107926400-107932000	Weak transcription	HUVEC	blood vessel
8	chr7:107927200-107935000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:107927200-107935200	Weak transcription	HMEC	breast
10	chr7:107927200-107939600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:107927400-107931200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:107927400-107931200	Weak transcription	NHEK	skin
13	chr7:107929800-107933600	Enhancers	Fetal Kidney	kidney
14	chr7:107930200-107932800	Enhancers	Fetal Intestine Large	intestine
15	chr7:107930200-107933400	Enhancers	Fetal Intestine Small	intestine
16	chr7:107930200-107934800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr7:107930200-107938400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr7:107930400-107930800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr7:107930400-107931200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:107930400-107932000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:107930400-107932200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:107930400-107933000	Flanking Active TSS	A549	lung
23	chr7:107930600-107930800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:107930600-107931000	Enhancers	Liver	Liver
25	chr7:107930600-107931000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:107930600-107931000	Flanking Active TSS	Fetal Lung	lung
27	chr7:107930600-107931200	Enhancers	Brain Hippocampus Middle	brain
28	chr7:107930600-107931400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr7:107930600-107931400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr7:107930600-107931400	Enhancers	Brain Angular Gyrus	brain
31	chr7:107930600-107931600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr7:107930600-107931600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr7:107930600-107932400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr7:107930600-107933800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr7:107930600-107934000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:107930600-107934000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:107930600-107934600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:107930600-107936400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:107930600-107938400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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