Variant report

Variant	rs74141106
Chromosome Location	chr1:212842220-212842221
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr1:212842153-212842915	GM12878	blood:	n/a	chr1:212842581-212842590 chr1:212842584-212842597
2	RAD21	chr1:212840377-212843515	SK-N-SH	brain:	n/a	chr1:212840652-212840662
3	SMC3	chr1:212841882-212843433	SK-N-SH	brain:	n/a	n/a
4	EP300	chr1:212839911-212843735	SK-N-SH	brain:	n/a	chr1:212843108-212843124 chr1:212840900-212840909 chr1:212842581-212842595 chr1:212843015-212843029 chr1:212840899-212840908
5	CTCF	chr1:212841945-212843432	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:212840474..212842285-chr1:212848383..212850482,2	K562	blood:
2	chr1:212840645..212842220-chr1:212858907..212860751,2	K562	blood:
3	chr1:212840015..212842725-chr1:212873043..212874949,2	K562	blood:
4	chr1:212835950..212837828-chr1:212841050..212842834,2	K562	blood:
5	chr1:212650603..212651105-chr1:212842126..212842894,2	K562	blood:
6	chr1:212797492..212799524-chr1:212839982..212842349,2	K562	blood:
7	chr1:212824117..212826577-chr1:212839689..212842758,3	K562	blood:
8	chr1:212839024..212843211-chr1:212844432..212848358,3	K562	blood:

Variant related genes	Relation type
ENSG00000237980	TF binding region
ENSG00000123685	Chromatin interaction
ENSG00000162771	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11799556	1.00[AMR][1000 genomes]
rs11801740	1.00[EUR][1000 genomes]
rs11801900	1.00[AMR][1000 genomes]
rs11802845	1.00[EUR][1000 genomes]
rs11804851	1.00[AMR][1000 genomes]
rs11807916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019397	1.00[EUR][1000 genomes]
rs17019640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019749	1.00[AMR][1000 genomes]
rs17019770	1.00[AMR][1000 genomes]
rs28505349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41296716	1.00[EUR][1000 genomes]
rs55787749	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55827218	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56012560	1.00[AMR][1000 genomes]
rs56085986	1.00[EUR][1000 genomes]
rs58725225	1.00[EUR][1000 genomes]
rs60334006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6675972	1.00[EUR][1000 genomes]
rs6684313	1.00[AMR][1000 genomes]
rs6685348	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6700258	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138553	1.00[EUR][1000 genomes]
rs74138559	1.00[EUR][1000 genomes]
rs74138571	1.00[AMR][1000 genomes]
rs74138622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138623	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138631	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140027	1.00[EUR][1000 genomes]
rs74140030	1.00[EUR][1000 genomes]
rs74140031	1.00[EUR][1000 genomes]
rs74140032	1.00[EUR][1000 genomes]
rs74140504	1.00[EUR][1000 genomes]
rs74140506	1.00[EUR][1000 genomes]
rs74140507	1.00[AMR][1000 genomes]
rs74140511	1.00[AMR][1000 genomes]
rs74140512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7511916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7523527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7525214	1.00[AMR][1000 genomes]
rs7538679	1.00[AMR][1000 genomes]
rs7549085	1.00[EUR][1000 genomes]
rs7551969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
7	esv1829918	chr1:212828460-212874731	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212839200-212843000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:212839200-212843600	Enhancers	Fetal Muscle Trunk	muscle
3	chr1:212839200-212843600	Enhancers	GM12878-XiMat	blood
4	chr1:212839200-212843800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:212839200-212845400	Enhancers	Placenta	Placenta
6	chr1:212839200-212845600	Enhancers	Fetal Muscle Leg	muscle
7	chr1:212839400-212842600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:212839400-212842800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:212839400-212843200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:212840000-212842600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:212840000-212842800	Enhancers	HSMM	muscle
12	chr1:212840400-212842600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:212840400-212842600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:212840400-212843200	Enhancers	Fetal Lung	lung
15	chr1:212840400-212846400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr1:212840600-212842600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:212840600-212842600	Enhancers	Fetal Stomach	stomach
18	chr1:212840600-212843400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:212840600-212843400	Enhancers	Lung	lung
20	chr1:212841000-212843000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:212841000-212843200	Enhancers	Fetal Intestine Small	intestine
22	chr1:212841200-212844000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr1:212841400-212842400	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:212841400-212842600	Enhancers	HepG2	liver
25	chr1:212841400-212842800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:212841400-212842800	Enhancers	HUVEC	blood vessel
27	chr1:212841400-212844000	Weak transcription	Brain Anterior Caudate	brain
28	chr1:212841400-212844000	Weak transcription	Fetal Thymus	thymus
29	chr1:212841400-212844400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:212841400-212844400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:212841400-212844600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:212841400-212844600	Weak transcription	Hela-S3	cervix
33	chr1:212841400-212844800	Weak transcription	Fetal Brain Male	brain
34	chr1:212841600-212842400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:212841600-212842400	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr1:212841600-212842800	Enhancers	A549	lung
37	chr1:212841600-212844200	Weak transcription	Brain Angular Gyrus	brain
38	chr1:212841600-212844600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:212841800-212842600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:212841800-212842600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr1:212841800-212842800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:212841800-212842800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:212841800-212843000	Enhancers	NHDF-Ad	bronchial
44	chr1:212841800-212843400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:212841800-212844200	Weak transcription	Brain Substantia Nigra	brain
46	chr1:212841800-212844400	Weak transcription	HMEC	breast
47	chr1:212842000-212842600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr1:212842000-212842600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr1:212842000-212842600	Enhancers	Primary hematopoietic stem cells	blood
50	chr1:212842000-212842600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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