Variant report

Variant	rs207
Chromosome Location	chr7:27950779-27950780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10249314	0.85[CEU][hapmap]
rs10951187	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11763181	0.85[CEU][hapmap]
rs12538288	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1859109	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs197	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs200	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs201	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs205	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs208	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2097737	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs211	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs213	1.00[CEU][hapmap]
rs214	1.00[AFR][1000 genomes]
rs215	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2158892	0.87[CEU][hapmap]
rs218	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4722746	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6462060	0.85[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6951040	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6958293	0.82[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6968362	0.85[CEU][hapmap]
rs6968677	0.85[CEU][hapmap]
rs6969949	1.00[CEU][hapmap]
rs6970113	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6970160	0.85[CEU][hapmap]
rs6972944	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73083394	0.94[EUR][1000 genomes]
rs7778340	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7783410	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7787507	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs916854	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1024819	chr7:27949955-28020969	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27926600-27956000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:27937600-27953800	Weak transcription	Right Ventricle	heart
3	chr7:27937600-27956200	Weak transcription	Gastric	stomach
4	chr7:27939200-27953000	Weak transcription	Left Ventricle	heart
5	chr7:27941200-27954400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:27941200-27956200	Weak transcription	Aorta	Aorta
7	chr7:27941400-27957600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:27941400-27990800	Weak transcription	Primary T cells from cord blood	blood
9	chr7:27941600-27956000	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:27941600-27962800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:27942200-27953800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:27942200-27956000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr7:27942400-27952400	Weak transcription	Primary B cells from cord blood	blood
14	chr7:27942400-28005600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr7:27946000-27952400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:27946600-27953400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:27946800-27953400	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:27949000-27957400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:27949200-27952600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:27949400-27951200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:27949400-27954400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr7:27949600-27950800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:27949600-27952200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr7:27949600-27953200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr7:27949600-27953400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr7:27949600-27955200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:27949800-27950800	Enhancers	Brain Germinal Matrix	brain
28	chr7:27949800-27952600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:27950200-27951000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr7:27950400-27951400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:27950400-27953400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr7:27950400-27953600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr7:27950400-27957400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:27950400-27963000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:27950600-27951000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
36	chr7:27950600-27951600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr7:27950600-27951600	Weak transcription	NHDF-Ad	bronchial
38	chr7:27950600-27952200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:27950600-27952400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:27950600-27953400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:27950600-27953600	Weak transcription	Fetal Heart	heart
42	chr7:27950600-27954200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr7:27950600-27956800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:27950600-27957000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:27950600-27957000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:27950600-27957200	Weak transcription	HSMMtube	muscle

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