Variant report

Variant	rs57314761
Chromosome Location	chr1:10184323-10184324
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	chr1:10183636..10186063-chr1:10189351..10191130,2	K562	blood:
2	chr1:10182962..10185943-chr1:10186449..10189274,2	K562	blood:

Variant related genes	Relation type
ENSG00000130939	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10127541	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11805696	1.00[AMR][1000 genomes]
rs11806378	1.00[AMR][1000 genomes]
rs13373975	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13374214	1.00[AMR][1000 genomes]
rs17034544	0.87[AFR][1000 genomes]
rs2004601	0.91[AFR][1000 genomes]
rs57015590	0.91[AFR][1000 genomes]
rs57841357	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58900002	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59570346	1.00[AMR][1000 genomes]
rs60413811	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60495933	1.00[AMR][1000 genomes]
rs6684466	1.00[AMR][1000 genomes]
rs6702986	1.00[AMR][1000 genomes]
rs72861450	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7532028	1.00[AMR][1000 genomes]
rs7532599	1.00[AMR][1000 genomes]
rs7535103	1.00[AMR][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	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv522629	chr1:10125765-10239197	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10145400-10189600	Weak transcription	Psoas Muscle	Psoas
2	chr1:10145800-10197000	Weak transcription	Stomach Mucosa	stomach
3	chr1:10163400-10219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:10164000-10227400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:10167400-10188400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:10167400-10192600	Weak transcription	Small Intestine	intestine
7	chr1:10167600-10190400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:10167600-10207400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:10169400-10195000	Weak transcription	Aorta	Aorta
10	chr1:10170200-10187000	Weak transcription	HUVEC	blood vessel
11	chr1:10172000-10188200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:10173000-10185200	Strong transcription	Fetal Intestine Large	intestine
13	chr1:10173000-10199400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr1:10173200-10185600	Strong transcription	Liver	Liver
15	chr1:10175000-10207200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:10175600-10184400	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:10177000-10184600	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr1:10178200-10187000	Weak transcription	NHDF-Ad	bronchial
19	chr1:10178200-10187800	Weak transcription	HSMMtube	muscle
20	chr1:10179200-10186400	Strong transcription	Fetal Intestine Small	intestine
21	chr1:10179400-10185800	Strong transcription	Primary T cells from cord blood	blood
22	chr1:10179800-10186600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:10179800-10188400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:10179800-10189400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:10179800-10190600	Weak transcription	Gastric	stomach
26	chr1:10179800-10190800	Weak transcription	NHLF	lung
27	chr1:10180000-10188200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:10180000-10188200	Weak transcription	Colonic Mucosa	Colon
29	chr1:10180000-10211200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:10180200-10186800	Weak transcription	HSMM	muscle
31	chr1:10180200-10187200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:10181000-10185800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:10181000-10199600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:10181200-10184400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:10181200-10185000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:10182000-10188200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:10182200-10185400	Weak transcription	Brain Substantia Nigra	brain
38	chr1:10182200-10186200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr1:10182200-10187000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:10182200-10187800	Weak transcription	NHEK	skin
41	chr1:10182200-10189800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:10182200-10231200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:10182400-10185400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:10182400-10185600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:10182400-10187000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr1:10182400-10187000	Weak transcription	Lung	lung
47	chr1:10182400-10187000	Weak transcription	Ovary	ovary
48	chr1:10182400-10187000	Weak transcription	GM12878-XiMat	blood
49	chr1:10182400-10187800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:10182400-10188000	Weak transcription	Fetal Kidney	kidney

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