Variant report

Variant	rs4724033
Chromosome Location	chr7:4763494-4763495
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4721561..4725553-chr7:4763080..4767294,4	MCF-7	breast:
2	chr7:4720287..4723602-chr7:4763123..4767792,8	MCF-7	breast:
3	chr7:4762980..4766999-chr7:4782747..4785912,5	MCF-7	breast:
4	chr7:4756833..4759526-chr7:4763472..4765275,2	MCF-7	breast:
5	chr7:4762748..4765277-chr7:4778868..4780947,2	MCF-7	breast:
6	chr7:4693699..4695931-chr7:4763441..4765012,2	MCF-7	breast:
7	chr7:4723706..4725532-chr7:4763308..4765301,2	MCF-7	breast:
8	chr7:4762343..4766286-chr7:4781806..4786084,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164916	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10228886	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10257680	0.94[ASN][1000 genomes]
rs10261971	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10262715	0.86[ASN][1000 genomes]
rs10277273	0.82[ASN][1000 genomes]
rs11765781	0.80[CEU][hapmap];0.84[JPT][hapmap]
rs12701913	0.82[ASN][1000 genomes]
rs13228233	0.84[JPT][hapmap]
rs13231213	0.82[ASN][1000 genomes]
rs13232425	0.91[ASN][1000 genomes]
rs3087749	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs35735269	0.86[ASN][1000 genomes]
rs4492258	0.84[AFR][1000 genomes]
rs4523152	0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs4540325	1.00[JPT][hapmap]
rs4720401	0.82[JPT][hapmap]
rs55801721	0.82[ASN][1000 genomes]
rs6463013	0.81[ASN][1000 genomes]
rs6463014	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944865	1.00[JPT][hapmap]
rs6959744	0.82[ASN][1000 genomes]
rs6973046	1.00[JPT][hapmap]
rs6975499	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781115	0.82[ASN][1000 genomes]
rs7781456	0.85[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7784748	1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs7786525	0.98[ASN][1000 genomes]
rs7793919	1.00[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][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	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv508442	chr7:4623264-4769628	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer 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 miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv887379	chr7:4749527-4828593	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4743800-4763600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:4747400-4764600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:4749000-4763600	Weak transcription	HUVEC	blood vessel
4	chr7:4752800-4763800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:4752800-4764200	Weak transcription	Colonic Mucosa	Colon
6	chr7:4752800-4764400	Weak transcription	Small Intestine	intestine
7	chr7:4753000-4763800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:4753400-4774800	Weak transcription	K562	blood
9	chr7:4753800-4764000	Strong transcription	Fetal Intestine Small	intestine
10	chr7:4754200-4763800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:4754400-4763600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:4755200-4764000	Weak transcription	Brain Germinal Matrix	brain
13	chr7:4755200-4764200	Weak transcription	HSMM	muscle
14	chr7:4755400-4764200	Weak transcription	NHEK	skin
15	chr7:4755600-4764200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:4755600-4764200	Weak transcription	Stomach Mucosa	stomach
17	chr7:4756400-4776800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:4757200-4778800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:4757400-4764400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:4758000-4764200	Weak transcription	Aorta	Aorta
21	chr7:4758200-4764200	Weak transcription	Fetal Brain Female	brain
22	chr7:4758400-4764000	Weak transcription	Liver	Liver
23	chr7:4758400-4764200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:4758400-4764200	Weak transcription	Hela-S3	cervix
25	chr7:4758400-4764200	Weak transcription	HMEC	breast
26	chr7:4759400-4763600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:4760000-4763600	Strong transcription	Dnd41	blood
28	chr7:4760000-4764400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr7:4760200-4764400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:4760800-4763800	Strong transcription	Thymus	Thymus
31	chr7:4760800-4764000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:4761000-4763600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr7:4761200-4763800	Genic enhancers	Fetal Muscle Trunk	muscle
34	chr7:4761200-4764200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:4761600-4764200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:4761600-4764200	Enhancers	Brain Angular Gyrus	brain
37	chr7:4761600-4764200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:4761600-4764200	Strong transcription	Fetal Intestine Large	intestine
39	chr7:4761800-4763600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:4761800-4763600	Strong transcription	Primary T cells from cord blood	blood
41	chr7:4761800-4768000	Enhancers	Fetal Heart	heart
42	chr7:4762000-4763600	Enhancers	Right Atrium	heart
43	chr7:4762000-4764000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
44	chr7:4762000-4764200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:4762000-4764200	Enhancers	Brain Substantia Nigra	brain
46	chr7:4762000-4764200	Enhancers	Fetal Brain Male	brain
47	chr7:4762200-4764200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:4762200-4764200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:4762400-4763600	Enhancers	Psoas Muscle	Psoas
50	chr7:4762400-4764000	Weak transcription	NH-A	brain

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