Variant report

Variant	rs62400497
Chromosome Location	chr6:46018800-46018801
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:46013085..46015232-chr6:46018774..46021155,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs62400486	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62400490	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428482	chr6:45926644-46050182	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1025846	chr6:45955173-46047269	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:46011800-46020200	Weak transcription	Lung	lung
2	chr6:46013000-46020200	Weak transcription	Left Ventricle	heart
3	chr6:46013000-46021400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:46015000-46018800	Weak transcription	Fetal Intestine Small	intestine
5	chr6:46015000-46018800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:46015000-46019000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:46016600-46019600	Weak transcription	Right Atrium	heart
8	chr6:46016600-46019600	Weak transcription	Right Ventricle	heart
9	chr6:46016800-46019600	Weak transcription	Adipose Nuclei	Adipose
10	chr6:46017400-46018800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr6:46017400-46019000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:46017800-46021400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:46017800-46021800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:46018000-46021000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:46018000-46022200	Enhancers	NHDF-Ad	bronchial
16	chr6:46018000-46024200	Enhancers	Fetal Intestine Large	intestine
17	chr6:46018600-46019200	Enhancers	Small Intestine	intestine
18	chr6:46018600-46021200	Enhancers	Fetal Heart	heart
19	chr6:46018600-46022200	Enhancers	Psoas Muscle	Psoas
20	chr6:46018800-46020400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr6:46018800-46020600	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr6:46018800-46020800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr6:46018800-46022200	Enhancers	HSMM	muscle
24	chr6:46018800-46023200	Enhancers	Fetal Intestine Small	intestine

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