Variant report

Variant	rs62407648
Chromosome Location	chr6:33622436-33622437
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33612102..33615096-chr6:33621382..33624139,2	K562	blood:
2	chr6:33606446..33608030-chr6:33621770..33624692,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10947420	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10947421	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10947422	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10947423	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10947424	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10947425	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12190817	0.86[AFR][1000 genomes]
rs12205634	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12208956	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12212284	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1570760	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2274197	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2274200	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3748079	0.86[AFR][1000 genomes]
rs57088429	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62407633	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72882008	0.86[AFR][1000 genomes]
rs9348923	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9357162	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9366826	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9469525	0.86[AFR][1000 genomes]
rs999942	0.89[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	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
2	nsv830639	chr6:33592022-33711346	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33602400-33622600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:33602400-33636400	Weak transcription	HSMMtube	muscle
3	chr6:33602600-33623400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:33602600-33624400	Weak transcription	Small Intestine	intestine
5	chr6:33602600-33625400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:33602600-33625800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:33602600-33631600	Weak transcription	Osteobl	bone
8	chr6:33602800-33624400	Weak transcription	Pancreas	Pancrea
9	chr6:33603000-33624000	Weak transcription	HSMM	muscle
10	chr6:33603000-33628600	Weak transcription	Primary B cells from cord blood	blood
11	chr6:33603400-33623000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr6:33603400-33626000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:33603400-33640400	Weak transcription	HUVEC	blood vessel
14	chr6:33603400-33641200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:33604800-33623000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:33604800-33623400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:33605000-33624400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr6:33605000-33625400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:33605200-33624000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:33605200-33624400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr6:33605200-33636400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:33606600-33633000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:33606800-33626200	Weak transcription	A549	lung
24	chr6:33606800-33646600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:33608200-33640800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr6:33609600-33623600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr6:33610400-33623600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:33610400-33624000	Weak transcription	Fetal Lung	lung
29	chr6:33610400-33624000	Weak transcription	Stomach Mucosa	stomach
30	chr6:33610400-33626000	Weak transcription	K562	blood
31	chr6:33611400-33623000	Strong transcription	Fetal Stomach	stomach
32	chr6:33611400-33626800	Weak transcription	Right Ventricle	heart
33	chr6:33611400-33643400	Weak transcription	Left Ventricle	heart
34	chr6:33611600-33623000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:33613000-33659400	Strong transcription	Fetal Intestine Small	intestine
36	chr6:33613200-33660400	Strong transcription	Thymus	Thymus
37	chr6:33613400-33635400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr6:33613600-33635000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr6:33614400-33636200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr6:33615000-33623000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:33615000-33660800	Strong transcription	Fetal Intestine Large	intestine
42	chr6:33615600-33626000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:33616600-33631400	Weak transcription	GM12878-XiMat	blood
44	chr6:33617200-33629200	Strong transcription	Hela-S3	cervix
45	chr6:33618200-33623200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr6:33619000-33632800	Strong transcription	NHEK	skin
47	chr6:33619400-33629600	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr6:33619600-33628400	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr6:33619600-33660800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr6:33619800-33624400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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