Variant report

Variant	rs1203730
Chromosome Location	chr7:40755978-40755979
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40754402..40757176-chr7:40759198..40761990,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10250246	0.95[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs10486813	0.94[CHB][hapmap];0.90[CHD][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs10951638	0.89[ASN][1000 genomes]
rs1146040	0.90[ASN][1000 genomes]
rs1203725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1203726	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1203727	0.94[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs1203728	0.94[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs1203733	0.95[CHB][hapmap];0.88[CHD][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs1203734	0.95[CHB][hapmap];0.88[CHD][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs13235741	0.87[ASN][1000 genomes]
rs17171762	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17171763	0.86[ASN][1000 genomes]
rs17171764	0.86[ASN][1000 genomes]
rs1921750	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35428147	0.88[ASN][1000 genomes]
rs4050983	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57655172	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62451217	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62451219	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6462987	0.95[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs6959899	1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6965055	0.95[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs6978898	0.95[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs73310278	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73310281	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7808606	0.89[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap];0.85[ASN][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	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1025605	chr7:40623026-40789063	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv538823	chr7:40623026-40789063	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1019833	chr7:40649369-40767377	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv538824	chr7:40649369-40767377	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv887988	chr7:40685811-40782572	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40751800-40757000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:40752600-40756200	Enhancers	Ovary	ovary
3	chr7:40752800-40756600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:40753200-40756600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:40753400-40756600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:40753800-40756600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:40753800-40758200	Enhancers	Osteobl	bone
8	chr7:40754000-40756200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:40754000-40757800	Enhancers	HSMM	muscle
10	chr7:40754000-40758200	Enhancers	NHDF-Ad	bronchial
11	chr7:40754200-40756200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:40754200-40757400	Enhancers	HMEC	breast
13	chr7:40754400-40756200	Enhancers	HSMMtube	muscle
14	chr7:40754600-40756400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:40754600-40757200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:40755000-40757400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr7:40755200-40756600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:40755400-40756200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:40755400-40756200	Enhancers	HepG2	liver
20	chr7:40755400-40756600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:40755400-40757400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:40755400-40757400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:40755400-40757400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr7:40755400-40757400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:40755400-40757400	Enhancers	Hela-S3	cervix
26	chr7:40755400-40757600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr7:40755400-40757800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:40755400-40758000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:40755400-40758200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:40755600-40756000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:40755600-40756000	Enhancers	Adipose Nuclei	Adipose
32	chr7:40755600-40756000	Enhancers	Liver	Liver
33	chr7:40755600-40756000	Enhancers	NHLF	lung
34	chr7:40755600-40756600	Enhancers	NHEK	skin
35	chr7:40755600-40756800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr7:40755600-40756800	Weak transcription	Right Atrium	heart
37	chr7:40755600-40757000	Weak transcription	Psoas Muscle	Psoas
38	chr7:40755800-40756000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr7:40755800-40756400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:40755800-40756600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:40755800-40756800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:40755800-40756800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:40755800-40756800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:40755800-40756800	Weak transcription	Fetal Muscle Leg	muscle
45	chr7:40755800-40756800	Weak transcription	Right Ventricle	heart
46	chr7:40755800-40756800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr7:40755800-40756800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr7:40755800-40757000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:40755800-40757400	Enhancers	HUVEC	blood vessel
50	chr7:40755800-40758600	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links