Variant report

Variant	rs10048807
Chromosome Location	chr2:62698564-62698565
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:62695267..62696888-chr2:62697506..62699070,2	K562	blood:
2	chr2:62690827..62693709-chr2:62697942..62699978,2	K562	blood:
3	chr2:62694347..62696888-chr2:62697503..62699006,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10188485	1.00[EUR][1000 genomes]
rs10190624	1.00[EUR][1000 genomes]
rs11903926	1.00[EUR][1000 genomes]
rs13383678	1.00[EUR][1000 genomes]
rs13422957	1.00[EUR][1000 genomes]
rs6732313	1.00[EUR][1000 genomes]
rs6732451	1.00[EUR][1000 genomes]
rs72883602	1.00[EUR][1000 genomes]
rs7602875	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv2751	chr2:62691264-62737131	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62684800-62700800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:62686200-62699000	Weak transcription	HSMMtube	muscle
3	chr2:62690400-62700600	Weak transcription	Fetal Intestine Large	intestine
4	chr2:62691400-62698800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:62693400-62699400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:62693400-62702200	Enhancers	Adipose Nuclei	Adipose
7	chr2:62693600-62699200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:62693600-62699200	Enhancers	Liver	Liver
9	chr2:62694000-62698800	Weak transcription	Spleen	Spleen
10	chr2:62694000-62699000	Weak transcription	Fetal Lung	lung
11	chr2:62694000-62699400	Weak transcription	NHLF	lung
12	chr2:62694000-62699800	Weak transcription	Fetal Intestine Small	intestine
13	chr2:62694800-62702200	Weak transcription	Right Ventricle	heart
14	chr2:62695000-62699400	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:62695000-62699800	Weak transcription	Right Atrium	heart
16	chr2:62695200-62699200	Enhancers	HepG2	liver
17	chr2:62695400-62698800	Weak transcription	NHDF-Ad	bronchial
18	chr2:62695400-62699600	Weak transcription	HSMM	muscle
19	chr2:62695400-62699800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:62695400-62701000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:62695400-62701200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:62695400-62701600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:62695400-62702200	Weak transcription	Lung	lung
24	chr2:62695600-62700600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:62695600-62701600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:62695800-62699000	Weak transcription	Osteobl	bone
27	chr2:62695800-62702200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:62695800-62702200	Weak transcription	NHEK	skin
29	chr2:62696000-62699000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:62696000-62701400	Weak transcription	HMEC	breast
31	chr2:62696000-62702200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:62696200-62701200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:62696200-62701600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:62696600-62698800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:62696600-62699200	Enhancers	Fetal Muscle Trunk	muscle
36	chr2:62696600-62701000	Enhancers	Fetal Thymus	thymus
37	chr2:62696600-62701200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:62696600-62702200	Enhancers	Fetal Muscle Leg	muscle
39	chr2:62696600-62705800	Enhancers	Fetal Stomach	stomach
40	chr2:62696800-62701200	Enhancers	Ovary	ovary
41	chr2:62696800-62701600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:62697000-62698800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:62697000-62699000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr2:62697000-62701800	Weak transcription	Psoas Muscle	Psoas
45	chr2:62697200-62699000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:62697600-62699400	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:62697600-62700400	Weak transcription	Placenta	Placenta
48	chr2:62697800-62698800	Weak transcription	Brain Anterior Caudate	brain
49	chr2:62697800-62700200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr2:62697800-62700400	Weak transcription	Rectal Smooth Muscle	rectum

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