Variant report

Variant	rs61848432
Chromosome Location	chr10:50342008-50342009
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:50341989-50342039	CMK	blood:	n/a
2	chr10:50341989-50342039	SKMC	muscle:	n/a
3	chr10:50341989-50342039	K562	blood:	n/a
4	chr10:50341989-50342039	NB4	blood:	n/a
5	chr10:50341989-50342039	Hepatocyte	liver:	n/a
6	chr10:50341989-50342039	AoSMC	blood vessel:	n/a
7	chr10:50341989-50342039	HPAEpiC	pulmonary alveolar:	n/a
8	chr10:50341989-50342039	A549	lung:	n/a
9	chr10:50341989-50342039	HCT-116	colon:	n/a
10	chr10:50341989-50342039	ProgFib	skin:	n/a
11	chr10:50341989-50342039	PrEC	prostate:	n/a
12	chr10:50341989-50342039	GM12891	blood:	n/a
13	chr10:50341989-50342039	U87	brain:	n/a
14	chr10:50341989-50342039	ECC-1	luminal epithelium:	n/a
15	chr10:50341989-50342039	HCF	heart:	n/a
16	chr10:50341989-50342039	HRE	kidney:	n/a
17	chr10:50341989-50342039	NH-A	brain:	n/a
18	chr10:50341989-50342039	RPTEC	kidney:	n/a
19	chr10:50341989-50342039	LNCaP	prostate:	n/a
20	chr10:50341989-50342039	AG09319	gingival:	n/a
21	chr10:50341989-50342039	NHDF-neo	bronchial:	n/a
22	chr10:50341989-50342039	HUVEC	blood vessel:	n/a
23	chr10:50341989-50342039	HCPEpiC	choroid plexus:	n/a
24	chr10:50341989-50342039	AG10803	skin:	n/a
25	chr10:50341989-50342039	Jurkat	blood:	n/a
26	chr10:50341989-50342039	T-47D	breast:	n/a
27	chr10:50341989-50342039	HEK293	kidney:	embryo
28	chr10:50341989-50342039	SK-N-SH_RA	brain:	n/a
29	chr10:50341989-50342039	PFSK-1	brain:	n/a
30	chr10:50341989-50342039	HepG2	liver:	n/a
31	chr10:50341989-50342039	GM19239	blood:	n/a
32	chr10:50341989-50342039	Caco-2	colon:	n/a
33	chr10:50341989-50342039	AG04450	lung:	fetal
34	chr10:50341989-50342039	NT2-D1	testis:	n/a
35	chr10:50341989-50342039	HRCEpiC	kidney:	n/a
36	chr10:50341989-50342039	PANC-1	pancreas:	n/a
37	chr10:50341989-50342039	IMR90	lung:	fetal
38	chr10:50341989-50342039	AG09309	skin:	n/a
39	chr10:50341989-50342039	MCF-7	breast:	n/a
40	chr10:50341989-50342039	MCF10A-Er-Src	breast:	n/a
41	chr10:50341989-50342039	HCM	heart:	n/a
42	chr10:50341989-50342039	HAEpiC	amniotic membrane:	n/a
43	chr10:50341989-50342039	HNPCEpiC	eye:	n/a
44	chr10:50341989-50342039	BJ	skin:	n/a
45	chr10:50341989-50342039	GM12878	blood:	n/a
46	chr10:50341989-50342039	ovcar-3	ovarian:	n/a
47	chr10:50341989-50342039	SK-N-MC	brain:	n/a
48	chr10:50341989-50342039	HIPEpiC	eye:	n/a
49	chr10:50341989-50342039	SAEC	small airway:	n/a
50	chr10:50341989-50342039	H1-hESC	embryonic stem cell:	embryo

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50322283..50325786-chr10:50341748..50344745,3	K562	blood:
2	chr10:50339347..50342012-chr10:50362966..50365728,2	K562	blood:

No data

Variant related genes	Relation type
FAM170B-AS1	CpG island
ENSG00000165633	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10218854	0.88[EUR][1000 genomes]
rs17011698	0.85[EUR][1000 genomes]
rs17011795	0.90[EUR][1000 genomes]
rs17011910	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2137919	0.83[EUR][1000 genomes]
rs2244085	0.83[EUR][1000 genomes]
rs2254632	0.83[EUR][1000 genomes]
rs2466749	0.83[EUR][1000 genomes]
rs2466750	0.83[EUR][1000 genomes]
rs4012668	0.83[EUR][1000 genomes]
rs41301107	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4838362	0.83[EUR][1000 genomes]
rs4838364	0.88[EUR][1000 genomes]
rs4838368	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4838445	0.88[EUR][1000 genomes]
rs4838459	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56192862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57328384	0.85[EUR][1000 genomes]
rs58473966	0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs59461690	0.90[EUR][1000 genomes]
rs61167870	0.92[EUR][1000 genomes]
rs61848154	0.83[EUR][1000 genomes]
rs61848421	0.92[EUR][1000 genomes]
rs61848427	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61848428	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61848429	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61848430	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61848455	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61850676	0.83[EUR][1000 genomes]
rs61850680	0.85[EUR][1000 genomes]
rs6537495	0.88[EUR][1000 genomes]
rs6537500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7069441	0.88[EUR][1000 genomes]
rs7070829	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7078930	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7080670	0.88[EUR][1000 genomes]
rs7085702	0.86[EUR][1000 genomes]
rs7094220	0.88[EUR][1000 genomes]
rs7096516	0.88[EUR][1000 genomes]
rs7101339	0.88[EUR][1000 genomes]
rs72783159	0.83[EUR][1000 genomes]
rs72785049	0.90[EUR][1000 genomes]
rs72785093	0.81[EUR][1000 genomes]
rs7393292	0.92[EUR][1000 genomes]
rs7897563	0.85[EUR][1000 genomes]
rs7902240	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7914194	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7915922	0.88[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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50324000-50343600	Weak transcription	Right Atrium	heart
2	chr10:50336000-50344200	Enhancers	Fetal Muscle Leg	muscle
3	chr10:50339800-50342200	Weak transcription	Fetal Lung	lung
4	chr10:50340400-50343800	Weak transcription	K562	blood
5	chr10:50340400-50347600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:50341600-50342800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr10:50341800-50342200	Enhancers	Fetal Muscle Trunk	muscle
8	chr10:50341800-50342200	Bivalent Enhancer	Placenta	Placenta
9	chr10:50341800-50342200	Enhancers	Left Ventricle	heart
10	chr10:50341800-50342200	Enhancers	Lung	lung
11	chr10:50341800-50342200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr10:50341800-50344200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr10:50341800-50344200	Enhancers	Fetal Stomach	stomach
14	chr10:50341800-50344200	Enhancers	Fetal Thymus	thymus
15	chr10:50342000-50342200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:50342000-50342200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:50342000-50342800	Enhancers	Dnd41	blood
18	chr10:50342000-50344000	Enhancers	Right Ventricle	heart

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