Variant report

Variant	rs74051559
Chromosome Location	chr1:9673618-9673619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9673401..9675992-chr1:9699245..9701040,2	K562	blood:
2	chr1:9670688..9673344-chr1:9673474..9675656,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11799804	1.00[AMR][1000 genomes]
rs11799995	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11800060	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11804156	0.81[AFR][1000 genomes]
rs11811820	0.81[AFR][1000 genomes]
rs4073292	1.00[EUR][1000 genomes]
rs4641334	1.00[EUR][1000 genomes]
rs56133747	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56674651	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74051551	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74051552	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74051558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7518144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931984	chr1:8879337-9694749	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription 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 miRNA	570 gene(s)	inside rSNPs	diseases
2	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
3	nsv1013224	chr1:9441040-9699768	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv464283	chr1:9495571-9677853	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv545363	chr1:9495571-9677853	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9650400-9676000	Weak transcription	A549	lung
2	chr1:9653800-9675400	Weak transcription	Stomach Mucosa	stomach
3	chr1:9653800-9675800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:9654000-9673800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:9654000-9675600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:9654400-9675400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:9655400-9674200	Strong transcription	Dnd41	blood
8	chr1:9655600-9674200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:9655600-9674600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:9655800-9674000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:9655800-9674200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:9655800-9674800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:9656000-9674000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:9656400-9674000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:9656800-9674200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:9656800-9674400	Strong transcription	Ovary	ovary
17	chr1:9656800-9674600	Weak transcription	HMEC	breast
18	chr1:9657200-9697600	Weak transcription	Right Atrium	heart
19	chr1:9659800-9674200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:9659800-9674200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:9659800-9674200	Strong transcription	Lung	lung
22	chr1:9659800-9674200	Strong transcription	Spleen	Spleen
23	chr1:9659800-9674400	Strong transcription	Stomach Smooth Muscle	stomach
24	chr1:9660200-9674000	Strong transcription	Adipose Nuclei	Adipose
25	chr1:9660200-9674000	Strong transcription	Fetal Intestine Large	intestine
26	chr1:9660200-9674200	Strong transcription	Placenta	Placenta
27	chr1:9660600-9676800	Weak transcription	HSMM	muscle
28	chr1:9662000-9675200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:9662000-9675800	Weak transcription	Primary B cells from cord blood	blood
30	chr1:9662200-9674200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:9662200-9676400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:9664000-9675200	Strong transcription	Fetal Stomach	stomach
33	chr1:9664200-9674800	Strong transcription	Fetal Intestine Small	intestine
34	chr1:9665000-9677400	Weak transcription	Osteobl	bone
35	chr1:9665600-9674200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:9665600-9675400	Strong transcription	Fetal Muscle Leg	muscle
37	chr1:9665800-9674200	Strong transcription	Esophagus	oesophagus
38	chr1:9666400-9674600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr1:9667000-9674000	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:9667000-9674800	Strong transcription	Fetal Thymus	thymus
41	chr1:9667200-9674600	Strong transcription	Fetal Brain Female	brain
42	chr1:9667200-9674800	Strong transcription	Brain Germinal Matrix	brain
43	chr1:9667400-9674200	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:9667400-9674400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:9667600-9674200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr1:9667600-9674400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:9667800-9674000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:9667800-9674000	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:9667800-9674200	Strong transcription	Brain Cingulate Gyrus	brain
50	chr1:9667800-9674400	Strong transcription	HUES64 Cell Line	embryonic stem cell

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