Variant report

Variant	rs74051552
Chromosome Location	chr1:9641416-9641417
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	chr1:9641156..9643477-chr1:9643791..9647017,3	K562	blood:
2	chr1:9635782..9637866-chr1:9639698..9642295,2	K562	blood:

Variant related genes	Relation type
ENSG00000231181	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10159413	1.00[AMR][1000 genomes]
rs11799995	1.00[EUR][1000 genomes]
rs11800060	1.00[EUR][1000 genomes]
rs11804156	1.00[AFR][1000 genomes]
rs11811820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4073292	1.00[EUR][1000 genomes]
rs4641334	1.00[EUR][1000 genomes]
rs55913306	1.00[AMR][1000 genomes]
rs56133747	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56674651	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57585081	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6701659	1.00[AMR][1000 genomes]
rs7354926	0.93[AFR][1000 genomes]
rs74051506	1.00[AMR][1000 genomes]
rs74051508	1.00[AMR][1000 genomes]
rs74051509	1.00[AMR][1000 genomes]
rs74051510	1.00[AMR][1000 genomes]
rs74051513	1.00[AMR][1000 genomes]
rs74051540	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74051544	0.91[AFR][1000 genomes]
rs74051551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74051558	1.00[EUR][1000 genomes]
rs74051559	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7518144	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	nsv871521	chr1:9640291-9666364	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr1:9616200-9648200	Weak transcription	Esophagus	oesophagus
2	chr1:9618600-9648200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:9619200-9648400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:9619200-9648400	Weak transcription	Aorta	Aorta
5	chr1:9619200-9648400	Weak transcription	Right Atrium	heart
6	chr1:9620200-9648200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:9620200-9648400	Weak transcription	Psoas Muscle	Psoas
8	chr1:9621600-9648400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:9622000-9648200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:9622000-9648200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:9622000-9648200	Weak transcription	Fetal Brain Female	brain
12	chr1:9622000-9648200	Weak transcription	Fetal Kidney	kidney
13	chr1:9622000-9648200	Weak transcription	NHLF	lung
14	chr1:9622000-9648400	Weak transcription	Fetal Lung	lung
15	chr1:9622200-9648200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:9622200-9648200	Weak transcription	HUVEC	blood vessel
17	chr1:9622200-9648200	Weak transcription	NH-A	brain
18	chr1:9622200-9648800	Weak transcription	Small Intestine	intestine
19	chr1:9623000-9645800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:9624600-9647000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:9625200-9648200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:9629200-9645000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:9629400-9643800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:9629600-9644400	Strong transcription	Dnd41	blood
25	chr1:9629800-9643800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:9630400-9643600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:9630600-9648400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:9631000-9642400	Strong transcription	Fetal Stomach	stomach
29	chr1:9631000-9643800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:9631400-9643600	Strong transcription	HepG2	liver
31	chr1:9631600-9643600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:9631600-9645200	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:9631800-9645400	Strong transcription	Liver	Liver
34	chr1:9633200-9643800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr1:9633200-9644600	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:9633400-9643800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:9633600-9643400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr1:9633600-9645000	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:9633800-9642600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr1:9634200-9648400	Weak transcription	HSMM	muscle
41	chr1:9634800-9648400	Weak transcription	Stomach Mucosa	stomach
42	chr1:9635400-9642600	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:9635600-9642400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:9635800-9641600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:9635800-9641600	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:9635800-9643600	Strong transcription	Fetal Thymus	thymus
47	chr1:9635800-9643600	Strong transcription	K562	blood
48	chr1:9635800-9643800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:9636200-9641800	Strong transcription	NHEK	skin
50	chr1:9636200-9643400	Strong transcription	Lung	lung

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