Variant report

Variant	rs9856418
Chromosome Location	chr3:46022319-46022320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46013767..46016030-chr3:46019815..46022441,2	K562	blood:
2	chr3:46020688..46022439-chr3:46080709..46083125,2	K562	blood:
3	chr3:46021917..46024700-chr3:46027716..46030169,2	MCF-7	breast:
4	chr3:46019979..46023374-chr3:46034093..46037294,5	K562	blood:
5	chr3:45979673..45982315-chr3:46020948..46022553,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12330199	1.00[EUR][1000 genomes]
rs13315494	1.00[EUR][1000 genomes]
rs13316935	1.00[EUR][1000 genomes]
rs13317076	1.00[EUR][1000 genomes]
rs2234359	1.00[EUR][1000 genomes]
rs28670183	1.00[EUR][1000 genomes]
rs41395345	1.00[EUR][1000 genomes]
rs6774011	1.00[EUR][1000 genomes]
rs73830784	1.00[EUR][1000 genomes]
rs7613756	1.00[EUR][1000 genomes]
rs7626225	1.00[EUR][1000 genomes]
rs7637926	1.00[EUR][1000 genomes]
rs9311389	1.00[EUR][1000 genomes]
rs9811093	1.00[EUR][1000 genomes]
rs9814852	1.00[EUR][1000 genomes]
rs9824752	1.00[EUR][1000 genomes]
rs9825221	1.00[EUR][1000 genomes]
rs9831791	1.00[EUR][1000 genomes]
rs9833683	1.00[EUR][1000 genomes]
rs9835366	1.00[EUR][1000 genomes]
rs9838832	1.00[EUR][1000 genomes]
rs9841919	1.00[EUR][1000 genomes]
rs9858301	1.00[EUR][1000 genomes]
rs9859087	1.00[EUR][1000 genomes]
rs9870657	1.00[EUR][1000 genomes]
rs9875356	1.00[EUR][1000 genomes]
rs9882765	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv876736	chr3:45900621-46027410	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr3:45981600-46025000	Strong transcription	Fetal Intestine Large	intestine
2	chr3:45986400-46026600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:45986600-46026800	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:45987200-46027200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:45987400-46026600	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:45987800-46026400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:45987800-46026800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:45987800-46027200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:45988000-46026600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:45996200-46025400	Strong transcription	Liver	Liver
11	chr3:46000000-46029600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr3:46002600-46025000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:46002600-46027200	Weak transcription	A549	lung
14	chr3:46007800-46024200	Weak transcription	Fetal Kidney	kidney
15	chr3:46008600-46026400	Strong transcription	Hela-S3	cervix
16	chr3:46009000-46027800	Weak transcription	Fetal Brain Male	brain
17	chr3:46010200-46022600	Weak transcription	Brain Angular Gyrus	brain
18	chr3:46010200-46024200	Strong transcription	Left Ventricle	heart
19	chr3:46010200-46027000	Weak transcription	Fetal Brain Female	brain
20	chr3:46010200-46029600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr3:46010200-46033000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:46010800-46022400	Weak transcription	Fetal Heart	heart
23	chr3:46013000-46026200	Weak transcription	Brain Germinal Matrix	brain
24	chr3:46013600-46023000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:46013600-46025000	Strong transcription	Fetal Intestine Small	intestine
26	chr3:46013600-46025400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr3:46013600-46025600	Strong transcription	Fetal Stomach	stomach
28	chr3:46013600-46034000	Genic enhancers	Fetal Thymus	thymus
29	chr3:46014000-46022400	Strong transcription	K562	blood
30	chr3:46014000-46025800	Strong transcription	HepG2	liver
31	chr3:46014000-46026400	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr3:46014200-46026000	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:46015000-46022600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:46015000-46025200	Strong transcription	Placenta	Placenta
35	chr3:46015200-46022600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr3:46015400-46026400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:46015600-46022600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:46015600-46024600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
39	chr3:46015600-46027200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr3:46015800-46026400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:46015800-46026800	Strong transcription	Brain Hippocampus Middle	brain
42	chr3:46015800-46027600	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr3:46016000-46026600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr3:46016200-46027800	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr3:46017400-46022600	Weak transcription	NH-A	brain
46	chr3:46017600-46024800	Strong transcription	Stomach Smooth Muscle	stomach
47	chr3:46017600-46026200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:46017800-46023200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr3:46018000-46024200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:46018000-46025800	Strong transcription	Lung	lung

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