Variant report

Variant	rs12622920
Chromosome Location	chr2:38753514-38753515
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38740787..38742664-chr2:38753203..38755236,2	MCF-7	breast:
2	chr2:38748763..38750578-chr2:38752263..38755021,2	K562	blood:
3	chr2:38753350..38754887-chr2:38758237..38760009,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13402042	0.88[EUR][1000 genomes]
rs7578342	0.94[EUR][1000 genomes]
rs9789634	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv527492	chr2:38753337-38759797	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38750800-38755200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:38750800-38755400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:38751000-38755000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:38751000-38755000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:38751000-38755000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:38751200-38755000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:38751200-38762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:38751800-38754800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:38751800-38755200	Weak transcription	Aorta	Aorta
10	chr2:38751800-38755200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:38752200-38755000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:38752200-38755000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:38752200-38755000	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:38752200-38755000	Weak transcription	Psoas Muscle	Psoas
15	chr2:38752200-38755200	Weak transcription	Primary B cells from cord blood	blood
16	chr2:38752200-38755200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:38752200-38755400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:38752200-38760200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:38752400-38755000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:38752400-38755000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:38752600-38754400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:38752600-38754800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:38752800-38754600	Weak transcription	NHLF	lung
24	chr2:38753000-38753800	Enhancers	Osteobl	bone
25	chr2:38753000-38754000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:38753400-38753600	Enhancers	Stomach Smooth Muscle	stomach
27	chr2:38753400-38753600	Enhancers	A549	lung
28	chr2:38753400-38753800	Enhancers	Colon Smooth Muscle	Colon
29	chr2:38753400-38753800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:38753400-38753800	Enhancers	Ovary	ovary
31	chr2:38753400-38753800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:38753400-38754000	Enhancers	HepG2	liver
33	chr2:38753400-38754400	Enhancers	Adipose Nuclei	Adipose
34	chr2:38753400-38754800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:38753400-38755000	Weak transcription	NHDF-Ad	bronchial

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