Variant report

Variant	rs13382384
Chromosome Location	chr2:38751219-38751220
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38751112..38753312-chr2:38768692..38771301,2	K562	blood:
2	chr2:38747817..38750045-chr2:38750359..38752178,2	K562	blood:
3	chr2:38749544..38751613-chr2:38963489..38965052,2	K562	blood:
4	chr2:38751052..38753238-chr2:38767165..38769647,2	MCF-7	breast:
5	chr2:38748674..38751613-chr2:38962125..38964989,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12622497	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12622526	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12712606	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12993657	0.83[EUR][1000 genomes]
rs13003268	0.88[EUR][1000 genomes]
rs13004207	0.92[EUR][1000 genomes]
rs13011825	0.87[EUR][1000 genomes]
rs13017981	0.88[EUR][1000 genomes]
rs13033060	0.90[EUR][1000 genomes]
rs13383838	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34311924	0.87[EUR][1000 genomes]
rs34355269	0.85[EUR][1000 genomes]
rs35066504	0.86[EUR][1000 genomes]
rs35120096	0.88[EUR][1000 genomes]
rs35275207	0.88[EUR][1000 genomes]
rs35299812	0.87[EUR][1000 genomes]
rs3731843	0.87[EUR][1000 genomes]
rs59239099	0.90[EUR][1000 genomes]
rs72795132	0.87[EUR][1000 genomes]
rs7584009	0.85[EUR][1000 genomes]
rs7592090	0.87[EUR][1000 genomes]
rs7603200	0.88[EUR][1000 genomes]
rs7606253	0.87[EUR][1000 genomes]
rs7606376	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38744800-38751600	Weak transcription	Adipose Nuclei	Adipose
2	chr2:38745000-38753400	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:38749600-38751600	Weak transcription	Ovary	ovary
4	chr2:38749800-38752200	Enhancers	Psoas Muscle	Psoas
5	chr2:38750000-38751400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:38750000-38751400	Enhancers	K562	blood
7	chr2:38750000-38752200	Enhancers	Fetal Muscle Leg	muscle
8	chr2:38750200-38752200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:38750200-38752400	Bivalent Enhancer	HepG2	liver
10	chr2:38750400-38751800	Enhancers	Aorta	Aorta
11	chr2:38750600-38751600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:38750600-38751800	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:38750600-38753400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:38750800-38752200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:38750800-38752400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:38750800-38752400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:38750800-38755200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:38750800-38755400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:38751000-38751400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:38751000-38752000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:38751000-38752200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:38751000-38753000	Enhancers	Stomach Smooth Muscle	stomach
23	chr2:38751000-38755000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:38751000-38755000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:38751000-38755000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:38751200-38751400	Enhancers	NHLF	lung
27	chr2:38751200-38751600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:38751200-38755000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:38751200-38762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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