Variant report

Variant	rs73442812
Chromosome Location	chr18:44701133-44701134
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:44675372..44679287-chr18:44700113..44704114,10	MCF-7	breast:
2	chr18:44675406..44678402-chr18:44700257..44702641,2	K562	blood:
3	chr18:44693298..44695901-chr18:44700902..44702609,2	K562	blood:
4	chr18:44676902..44678518-chr18:44699803..44701757,2	K562	blood:
5	chr18:44675848..44678361-chr18:44699497..44704011,6	MCF-7	breast:
6	chr18:44495357..44497403-chr18:44700842..44702618,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078043	Chromatin interaction
ENSG00000167220	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs60013633	0.90[AFR][1000 genomes]
rs73426039	0.89[AFR][1000 genomes]
rs73440963	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv833640	chr18:44552276-44714872	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv3412252	chr18:44684003-44711534	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44677800-44701800	Weak transcription	Esophagus	oesophagus
2	chr18:44678200-44701200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr18:44678200-44701200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr18:44681800-44701200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr18:44683000-44701200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr18:44686800-44701200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr18:44688200-44702200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr18:44693800-44701800	Weak transcription	Gastric	stomach
9	chr18:44698600-44701200	Enhancers	K562	blood
10	chr18:44698600-44701600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr18:44699600-44701400	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr18:44699800-44701600	Enhancers	Left Ventricle	heart
13	chr18:44700000-44701200	Enhancers	Right Atrium	heart
14	chr18:44700000-44701400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr18:44700000-44701600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr18:44700000-44701800	Enhancers	Primary B cells from peripheral blood	blood
17	chr18:44700200-44701200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr18:44700200-44701200	Enhancers	Brain Angular Gyrus	brain
19	chr18:44700200-44701200	Enhancers	Stomach Mucosa	stomach
20	chr18:44700200-44701400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr18:44700200-44701400	Enhancers	Fetal Brain Female	brain
22	chr18:44700400-44701200	Enhancers	Brain Anterior Caudate	brain
23	chr18:44700400-44701200	Enhancers	Right Ventricle	heart
24	chr18:44700400-44701400	Enhancers	Primary T cells from cord blood	blood
25	chr18:44700400-44701400	Enhancers	Small Intestine	intestine
26	chr18:44700400-44701600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr18:44700400-44702000	Enhancers	Spleen	Spleen
28	chr18:44700600-44701200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr18:44700600-44701200	Enhancers	Brain Hippocampus Middle	brain
30	chr18:44700600-44701200	Enhancers	Fetal Heart	heart
31	chr18:44700600-44701400	Enhancers	Ovary	ovary
32	chr18:44700600-44701600	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr18:44700600-44701800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr18:44700800-44701200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr18:44700800-44701200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr18:44700800-44701200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr18:44700800-44701200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr18:44700800-44701200	Enhancers	Aorta	Aorta
39	chr18:44700800-44701200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr18:44700800-44701200	Enhancers	Placenta	Placenta
41	chr18:44700800-44701200	Enhancers	HUVEC	blood vessel
42	chr18:44700800-44701400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr18:44700800-44701400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr18:44700800-44701400	Enhancers	Fetal Intestine Large	intestine
45	chr18:44700800-44701400	Enhancers	Lung	lung
46	chr18:44700800-44701600	Enhancers	Primary T cells fromperipheralblood	blood
47	chr18:44700800-44701600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr18:44700800-44701600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr18:44700800-44701600	Flanking Active TSS	Fetal Kidney	kidney
50	chr18:44700800-44703000	Active TSS	Colonic Mucosa	Colon

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