Variant report

Variant	rs7579998
Chromosome Location	chr2:188859657-188859658
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12999094	0.83[EUR][1000 genomes]
rs4666750	0.92[EUR][1000 genomes]
rs4667202	0.83[AFR][1000 genomes]
rs4667203	1.00[ASN][1000 genomes]
rs4667208	0.92[EUR][1000 genomes]
rs6733822	0.92[EUR][1000 genomes]
rs72903863	0.92[EUR][1000 genomes]
rs72903868	0.92[EUR][1000 genomes]
rs72903872	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533353	chr2:188498301-189024655	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875597	chr2:188573244-188916290	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1011832	chr2:188631943-188896492	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv536087	chr2:188631943-188896492	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv584041	chr2:188644642-188928433	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv523293	chr2:188774681-188928433	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv470503	chr2:188837548-188896397	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv584043	chr2:188837548-188896397	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv875600	chr2:188857787-188893936	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188850400-188860600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr2:188853200-188860800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:188853600-188861400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:188854800-188861200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:188855400-188860000	Enhancers	Primary T cells from cord blood	blood
6	chr2:188856000-188860200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:188856000-188861200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:188856400-188861200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:188857000-188859800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:188857600-188860200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:188857600-188861400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr2:188857800-188859800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:188857800-188861000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr2:188858200-188860000	Enhancers	HSMMtube	muscle
15	chr2:188858200-188860200	Enhancers	Fetal Muscle Leg	muscle
16	chr2:188858200-188860400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:188858200-188860800	Enhancers	Fetal Heart	heart
18	chr2:188858200-188861400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:188858400-188860000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:188858400-188860400	Enhancers	Brain Anterior Caudate	brain
21	chr2:188858400-188860600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:188858600-188859800	Enhancers	Ovary	ovary
23	chr2:188858600-188860000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:188858600-188860000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr2:188858800-188859800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:188858800-188860400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:188858800-188861000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr2:188858800-188864600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:188859000-188860400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:188859000-188861200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:188859200-188859800	Enhancers	Brain Substantia Nigra	brain
32	chr2:188859200-188859800	Enhancers	Right Ventricle	heart
33	chr2:188859200-188859800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr2:188859200-188860000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:188859200-188860000	Enhancers	Brain Hippocampus Middle	brain
36	chr2:188859200-188860000	Enhancers	Fetal Brain Female	brain
37	chr2:188859200-188860200	Enhancers	Left Ventricle	heart
38	chr2:188859400-188859800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:188859400-188859800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr2:188859400-188859800	Enhancers	Psoas Muscle	Psoas
41	chr2:188859400-188860000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr2:188859400-188860200	Enhancers	Fetal Thymus	thymus
43	chr2:188859400-188860200	Enhancers	NHDF-Ad	bronchial
44	chr2:188859400-188860600	Enhancers	Brain Germinal Matrix	brain
45	chr2:188859600-188860000	Enhancers	Brain Cingulate Gyrus	brain
46	chr2:188859600-188860400	Weak transcription	Lung	lung

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