Variant report

Variant	rs1962247
Chromosome Location	chr1:155708721-155708722
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155699238..155701661-chr1:155707272..155709440,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10908468	0.84[EUR][1000 genomes]
rs1094462	0.95[EUR][1000 genomes]
rs11803678	0.95[EUR][1000 genomes]
rs13374129	0.95[EUR][1000 genomes]
rs1624846	0.95[EUR][1000 genomes]
rs16837037	0.95[EUR][1000 genomes]
rs171167	0.95[EUR][1000 genomes]
rs17377506	0.84[EUR][1000 genomes]
rs1749421	0.95[EUR][1000 genomes]
rs1765284	0.92[EUR][1000 genomes]
rs2477541	0.95[EUR][1000 genomes]
rs2686255	0.95[EUR][1000 genomes]
rs28574887	0.95[EUR][1000 genomes]
rs2985708	0.90[EUR][1000 genomes]
rs348206	0.95[EUR][1000 genomes]
rs35044707	0.95[EUR][1000 genomes]
rs41264969	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4253908	0.90[EUR][1000 genomes]
rs4612618	0.95[EUR][1000 genomes]
rs4933	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4971086	0.87[EUR][1000 genomes]
rs4971087	0.87[EUR][1000 genomes]
rs543854	0.95[EUR][1000 genomes]
rs548809	0.95[EUR][1000 genomes]
rs552778	1.00[EUR][1000 genomes]
rs56758819	0.95[EUR][1000 genomes]
rs59706606	0.95[EUR][1000 genomes]
rs59791187	0.95[EUR][1000 genomes]
rs61258690	0.90[EUR][1000 genomes]
rs621181	1.00[EUR][1000 genomes]
rs682020	0.95[EUR][1000 genomes]
rs708612	0.90[EUR][1000 genomes]
rs73001021	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7525057	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7535158	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs822016	0.95[EUR][1000 genomes]
rs822018	0.95[EUR][1000 genomes]
rs822019	0.95[EUR][1000 genomes]
rs822020	0.95[EUR][1000 genomes]
rs822022	0.95[EUR][1000 genomes]
rs822026	0.90[EUR][1000 genomes]
rs9426929	1.00[EUR][1000 genomes]
rs9427223	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	esv3381327	chr1:155582853-155718436	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv3436971	chr1:155618172-155733386	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	esv3338099	chr1:155618190-155733359	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv3065	chr1:155682768-155727524	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155679400-155710400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:155683200-155715000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:155683800-155709000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:155683800-155715000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:155687200-155715000	Weak transcription	Esophagus	oesophagus
6	chr1:155688400-155711200	Strong transcription	Fetal Muscle Leg	muscle
7	chr1:155688800-155710800	Strong transcription	Fetal Stomach	stomach
8	chr1:155688800-155711000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:155689200-155709400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:155691000-155709000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:155695000-155709400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:155695600-155714600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:155695800-155714600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:155698800-155709200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:155699000-155714800	Weak transcription	Stomach Mucosa	stomach
16	chr1:155699200-155710800	Strong transcription	Fetal Intestine Small	intestine
17	chr1:155700200-155709600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:155701000-155709400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:155701000-155714600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:155701200-155709000	Strong transcription	Adipose Nuclei	Adipose
21	chr1:155702000-155714600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:155702200-155709000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:155703200-155708800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:155704600-155714800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:155704600-155714800	Weak transcription	Fetal Lung	lung
26	chr1:155705800-155709000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:155705800-155709000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:155705800-155709000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr1:155705800-155709000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:155705800-155709000	Strong transcription	Fetal Intestine Large	intestine
31	chr1:155705800-155709200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:155705800-155709400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:155706000-155708800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:155706000-155708800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:155706000-155708800	Strong transcription	Spleen	Spleen
36	chr1:155706000-155709000	Strong transcription	Primary T cells from cord blood	blood
37	chr1:155706000-155709000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:155706000-155709000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr1:155706000-155709000	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:155706000-155709000	Strong transcription	Dnd41	blood
41	chr1:155706000-155709200	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr1:155706000-155709200	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr1:155706000-155709200	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:155706000-155709200	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:155706000-155709200	Strong transcription	Fetal Muscle Trunk	muscle
46	chr1:155706200-155708800	Strong transcription	Lung	lung
47	chr1:155706200-155709000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:155706200-155709000	Strong transcription	Primary B cells from peripheral blood	blood
49	chr1:155706200-155709000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:155706200-155709000	Strong transcription	GM12878-XiMat	blood

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