Variant report

Variant	rs73812612
Chromosome Location	chr5:179975236-179975237
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179971098..179973715-chr5:179974219..179975941,2	MCF-7	breast:
2	chr5:179975222..179976782-chr5:179978271..179981266,2	K562	blood:
3	chr5:179923854..179927597-chr5:179974532..179977818,3	MCF-7	breast:
4	chr5:179951354..179953735-chr5:179973821..179976240,2	K562	blood:
5	chr5:179944903..179947278-chr5:179974741..179976598,2	MCF-7	breast:
6	chr5:179725066..179727186-chr5:179974697..179977225,2	K562	blood:
7	chr5:179954302..179955834-chr5:179973302..179975583,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs56774872	1.00[AFR][1000 genomes]
rs72811166	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
4	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
6	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
8	nsv1023537	chr5:179791679-179982822	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv537985	chr5:179791679-179982822	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv830564	chr5:179867394-180010096	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	esv1810959	chr5:179945112-179997861	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179950200-179984400	Weak transcription	NHDF-Ad	bronchial
2	chr5:179950200-179992000	Weak transcription	Right Ventricle	heart
3	chr5:179950400-179992400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:179950600-180004000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:179951000-179991800	Weak transcription	Small Intestine	intestine
6	chr5:179952800-179975400	Weak transcription	Stomach Mucosa	stomach
7	chr5:179953600-179977000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr5:179953800-179975400	Weak transcription	Fetal Heart	heart
9	chr5:179955600-179977600	Weak transcription	Colonic Mucosa	Colon
10	chr5:179957400-179976800	Weak transcription	Osteobl	bone
11	chr5:179959000-179978200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:179959600-179975400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:179959800-179978600	Weak transcription	Brain Angular Gyrus	brain
14	chr5:179959800-179991600	Weak transcription	HMEC	breast
15	chr5:179960000-179977400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr5:179960000-180000600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:179960200-179976800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:179960200-179977000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:179960200-179977000	Weak transcription	Brain Anterior Caudate	brain
20	chr5:179960200-179977600	Weak transcription	NHEK	skin
21	chr5:179960200-179982200	Weak transcription	HSMMtube	muscle
22	chr5:179960200-179991600	Weak transcription	Esophagus	oesophagus
23	chr5:179960200-179998200	Weak transcription	Spleen	Spleen
24	chr5:179960400-179991600	Weak transcription	Gastric	stomach
25	chr5:179961000-179977600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr5:179961200-179976800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr5:179961200-179977800	Weak transcription	Aorta	Aorta
28	chr5:179961200-179992600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:179961400-179977000	Weak transcription	Lung	lung
30	chr5:179961400-179977000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr5:179961400-179991800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:179961600-179991800	Weak transcription	Colon Smooth Muscle	Colon
33	chr5:179961800-179982000	Weak transcription	NHLF	lung
34	chr5:179962200-179977600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:179962200-179991800	Weak transcription	Brain Hippocampus Middle	brain
36	chr5:179962600-179975400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr5:179962600-179982200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr5:179962800-179977000	Weak transcription	Fetal Brain Male	brain
39	chr5:179964000-179977800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr5:179964000-179992600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:179964400-179976800	Weak transcription	Liver	Liver
42	chr5:179964400-179977000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:179964400-179978000	Weak transcription	Brain Germinal Matrix	brain
44	chr5:179966800-179987400	Strong transcription	Dnd41	blood
45	chr5:179967600-179977600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr5:179967600-179982200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr5:179967600-179991800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:179968000-179976800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:179968000-179980400	Weak transcription	NH-A	brain
50	chr5:179968000-179981000	Weak transcription	Fetal Kidney	kidney

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