Variant report

Variant	rs4478172
Chromosome Location	chr4:7902003-7902004
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7896306..7899121-chr4:7899762..7902473,2	MCF-7	breast:
2	chr4:7881697..7884478-chr4:7901263..7903029,2	MCF-7	breast:
3	chr4:7900242..7903106-chr4:7943268..7945113,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10005650	0.93[ASN][1000 genomes]
rs10024625	0.83[ASN][1000 genomes]
rs11736967	0.86[CHB][hapmap]
rs2386054	0.91[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs28425587	0.95[ASN][1000 genomes]
rs28434072	0.87[ASN][1000 genomes]
rs28607438	0.83[ASN][1000 genomes]
rs28668205	0.83[ASN][1000 genomes]
rs28675899	0.84[ASN][1000 genomes]
rs28735181	0.83[ASN][1000 genomes]
rs28735634	0.83[ASN][1000 genomes]
rs28842326	0.87[ASN][1000 genomes]
rs4274847	0.86[CHB][hapmap]
rs4401450	0.84[ASN][1000 genomes]
rs4488938	0.84[ASN][1000 genomes]
rs4689166	0.81[CHB][hapmap]
rs4689877	0.86[CHB][hapmap]
rs61081420	0.84[ASN][1000 genomes]
rs61214925	0.83[ASN][1000 genomes]
rs6605361	0.85[ASN][1000 genomes]
rs6820041	0.93[ASN][1000 genomes]
rs6839086	0.86[ASN][1000 genomes]
rs6842743	0.92[ASN][1000 genomes]
rs71175434	0.84[ASN][1000 genomes]
rs73073924	0.87[ASN][1000 genomes]
rs73088591	0.83[ASN][1000 genomes]
rs73088594	0.83[ASN][1000 genomes]
rs73090508	0.83[ASN][1000 genomes]
rs73090513	0.83[ASN][1000 genomes]
rs73090514	0.83[ASN][1000 genomes]
rs7376703	0.85[ASN][1000 genomes]
rs7676488	0.83[ASN][1000 genomes]
rs7691757	0.86[ASN][1000 genomes]
rs7695510	0.87[ASN][1000 genomes]
rs9330346	0.87[ASN][1000 genomes]
rs9654093	0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs9991239	0.85[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap]

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	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv2143898	chr4:7901879-7902297	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3333878	chr4:7901940-7902194	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7883200-7904400	Weak transcription	Gastric	stomach
2	chr4:7886800-7904400	Weak transcription	Small Intestine	intestine
3	chr4:7892600-7903800	Weak transcription	Stomach Mucosa	stomach
4	chr4:7893000-7902200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:7893200-7903400	Weak transcription	Fetal Kidney	kidney
6	chr4:7893200-7905600	Weak transcription	Brain Angular Gyrus	brain
7	chr4:7893800-7902600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr4:7894200-7912400	Weak transcription	Fetal Intestine Large	intestine
9	chr4:7894400-7904400	Weak transcription	Left Ventricle	heart
10	chr4:7894400-7906200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:7894600-7902800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:7895600-7907600	Weak transcription	Colonic Mucosa	Colon
13	chr4:7896000-7902600	Weak transcription	Aorta	Aorta
14	chr4:7896800-7903000	Weak transcription	Placenta	Placenta
15	chr4:7896800-7903200	Weak transcription	Right Ventricle	heart
16	chr4:7896800-7904400	Weak transcription	Adipose Nuclei	Adipose
17	chr4:7896800-7904400	Weak transcription	Spleen	Spleen
18	chr4:7896800-7907600	Weak transcription	Fetal Intestine Small	intestine
19	chr4:7897000-7902200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:7897000-7902200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr4:7897000-7902800	Weak transcription	Right Atrium	heart
22	chr4:7897000-7907400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:7897400-7905800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:7898600-7902600	Enhancers	Brain Germinal Matrix	brain
25	chr4:7898600-7904400	Enhancers	A549	lung
26	chr4:7898800-7902600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:7898800-7905200	Enhancers	Colon Smooth Muscle	Colon
28	chr4:7899200-7905800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:7899400-7903000	Enhancers	Fetal Stomach	stomach
30	chr4:7899600-7907000	Enhancers	Fetal Brain Male	brain
31	chr4:7899800-7902200	Weak transcription	NHDF-Ad	bronchial
32	chr4:7899800-7930600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:7900000-7902200	Weak transcription	Lung	lung
34	chr4:7900000-7902200	Weak transcription	Ovary	ovary
35	chr4:7900000-7904000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:7900000-7905000	Weak transcription	HMEC	breast
37	chr4:7900000-7906400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:7900000-7907400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:7900200-7905400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:7900200-7905600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr4:7900200-7912400	Weak transcription	NHEK	skin
42	chr4:7900400-7902200	Weak transcription	NHLF	lung
43	chr4:7900400-7904400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr4:7900400-7904600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr4:7900400-7905800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:7900800-7905000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr4:7900800-7906000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr4:7900800-7914400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr4:7901000-7902600	Enhancers	HSMM	muscle
50	chr4:7901000-7903000	Enhancers	Stomach Smooth Muscle	stomach

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