Variant report

Variant	rs4839289
Chromosome Location	chr1:113672699-113672700
allele	A/G
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	POLR2A	chr1:113672373-113672938	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:113670566-113673475	K562	blood:	n/a	n/a

Variant related genes	Relation type
RLIMP2	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11102594	0.93[AFR][1000 genomes]
rs1216771	0.81[AFR][1000 genomes]
rs1216794	0.96[AFR][1000 genomes]
rs1216795	0.91[AFR][1000 genomes]
rs1216799	1.00[AFR][1000 genomes]
rs1216806	0.96[AFR][1000 genomes]
rs1216809	0.96[AFR][1000 genomes]
rs1216811	0.96[AFR][1000 genomes]
rs1632505	0.96[AFR][1000 genomes]
rs1766861	0.82[AFR][1000 genomes]
rs6674506	0.87[AFR][1000 genomes]
rs7555465	0.96[AFR][1000 genomes]
rs946217	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription 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 miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
7	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
8	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
9	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
10	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113634200-113673000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:113634600-113673000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:113653600-113673000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:113657000-113673000	Strong transcription	Primary T cells from cord blood	blood
5	chr1:113657000-113673400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:113662600-113675000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:113663400-113683400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:113667200-113675000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:113667200-113675200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:113667200-113675800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:113667200-113678400	Weak transcription	Pancreas	Pancrea
12	chr1:113667200-113682400	Weak transcription	Fetal Brain Male	brain
13	chr1:113667200-113683400	Weak transcription	Esophagus	oesophagus
14	chr1:113667200-113683400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:113667200-113683400	Weak transcription	A549	lung
16	chr1:113667400-113679000	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:113667400-113685200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:113667600-113683600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:113667800-113683400	Weak transcription	Gastric	stomach
20	chr1:113667800-113683600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:113668000-113674800	Weak transcription	Aorta	Aorta
22	chr1:113668200-113683200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:113668200-113683600	Weak transcription	Small Intestine	intestine
24	chr1:113668400-113675000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:113668400-113675000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:113668400-113675000	Weak transcription	Spleen	Spleen
27	chr1:113668600-113675800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:113669000-113673600	Weak transcription	Psoas Muscle	Psoas
29	chr1:113669600-113675000	Weak transcription	Left Ventricle	heart
30	chr1:113669600-113676400	Weak transcription	HepG2	liver
31	chr1:113669600-113676600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr1:113669600-113679000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:113669600-113679800	Weak transcription	K562	blood
34	chr1:113669600-113680000	Weak transcription	Fetal Intestine Large	intestine
35	chr1:113669600-113683000	Weak transcription	Stomach Mucosa	stomach
36	chr1:113669600-113683400	Weak transcription	Brain Angular Gyrus	brain
37	chr1:113669600-113683400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr1:113669600-113683400	Weak transcription	Fetal Lung	lung
39	chr1:113669600-113683400	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:113669600-113683400	Weak transcription	Lung	lung
41	chr1:113669600-113683400	Weak transcription	NHEK	skin
42	chr1:113669600-113683600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:113669600-113685400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr1:113669600-113689400	Weak transcription	Thymus	Thymus
45	chr1:113669800-113674400	Weak transcription	Ovary	ovary
46	chr1:113669800-113675000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr1:113669800-113675000	Weak transcription	Brain Substantia Nigra	brain
48	chr1:113669800-113675600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:113669800-113676400	Weak transcription	Dnd41	blood
50	chr1:113669800-113677200	Weak transcription	Brain Hippocampus Middle	brain

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