Variant report

Variant	rs12358630
Chromosome Location	chr10:52002548-52002549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr10:52002446-52003069	SK-N-SH	brain:	n/a	chr10:52002731-52002739 chr10:52002730-52002740 chr10:52002729-52002741 chr10:52002731-52002740 chr10:52002729-52002740 chr10:52002732-52002739 chr10:52002730-52002739
2	FAM48A	chr10:52002457-52002647	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:52002547-52002597	H1-hESC	embryonic stem cell:	embryo
2	chr10:52002547-52002597	T-47D	breast:	n/a
3	chr10:52002547-52002597	AG04450	lung:	fetal
4	chr10:52002547-52002597	HRPEpiC	eye:	n/a
5	chr10:52002547-52002597	Jurkat	blood:	n/a
6	chr10:52002547-52002597	AoSMC	blood vessel:	n/a
7	chr10:52002547-52002597	HEK293	kidney:	embryo
8	chr10:52002547-52002597	NHDF-neo	bronchial:	n/a
9	chr10:52002547-52002597	SKMC	muscle:	n/a
10	chr10:52002547-52002597	HIPEpiC	eye:	n/a
11	chr10:52002547-52002597	HAEpiC	amniotic membrane:	n/a
12	chr10:52002547-52002597	HMEC	breast:	n/a
13	chr10:52002547-52002597	SK-N-SH	brain:	n/a
14	chr10:52002547-52002597	LNCaP	prostate:	n/a
15	chr10:52002547-52002597	NB4	blood:	n/a
16	chr10:52002547-52002597	AG09319	gingival:	n/a
17	chr10:52002547-52002597	SK-N-MC	brain:	n/a
18	chr10:52002547-52002597	Hepatocyte	liver:	n/a
19	chr10:52002547-52002597	HEEpiC	esophagus:	n/a
20	chr10:52002547-52002597	HCT-116	colon:	n/a
21	chr10:52002547-52002597	GM12878	blood:	n/a
22	chr10:52002547-52002597	SAEC	small airway:	n/a
23	chr10:52002547-52002597	BE2_C	brain:	n/a
24	chr10:52002547-52002597	GM06990	blood:	n/a
25	chr10:52002547-52002597	BJ	skin:	n/a
26	chr10:52002547-52002597	HRE	kidney:	n/a
27	chr10:52002547-52002597	GM19239	blood:	n/a
28	chr10:52002547-52002597	HRCEpiC	kidney:	n/a
29	chr10:52002547-52002597	PrEC	prostate:	n/a
30	chr10:52002547-52002597	Caco-2	colon:	n/a
31	chr10:52002547-52002597	ovcar-3	ovarian:	n/a
32	chr10:52002547-52002597	HCPEpiC	choroid plexus:	n/a
33	chr10:52002547-52002597	NT2-D1	testis:	n/a
34	chr10:52002547-52002597	IMR90	lung:	fetal
35	chr10:52002547-52002597	NH-A	brain:	n/a
36	chr10:52002547-52002597	SK-N-SH_RA	brain:	n/a
37	chr10:52002547-52002597	HCM	heart:	n/a
38	chr10:52002547-52002597	HUVEC	blood vessel:	n/a
39	chr10:52002547-52002597	NHBE	bronchial:	n/a
40	chr10:52002547-52002597	CMK	blood:	n/a
41	chr10:52002547-52002597	ProgFib	skin:	n/a
42	chr10:52002547-52002597	MCF10A-Er-Src	breast:	n/a
43	chr10:52002547-52002597	PANC-1	pancreas:	n/a
44	chr10:52002547-52002597	HCF	heart:	n/a
45	chr10:52002547-52002597	MCF-7	breast:	n/a
46	chr10:52002547-52002597	A549	lung:	n/a
47	chr10:52002547-52002597	RPTEC	kidney:	n/a
48	chr10:52002547-52002597	AG10803	skin:	n/a
49	chr10:52002547-52002597	AG04449	skin:	fetal
50	chr10:52002547-52002597	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:52001284..52004039-chr10:52006500..52009846,3	K562	blood:

No data

Variant related genes	Relation type
ASAH2	TF binding region
ASAH2	CpG island
ENSG00000188611	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1583522	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1865749	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2574944	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2574946	0.83[EUR][1000 genomes]
rs2574983	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2813305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518071	chr10:51595893-52157935	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1037778	chr10:51886486-52011986	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1053903	chr10:51886486-52163991	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1040661	chr10:51886486-52164585	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1051028	chr10:51886486-52164585	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv1037118	chr10:51886486-52167442	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv521271	chr10:51912781-52009648	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv2830205	chr10:51978430-52135215	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv1053293	chr10:51981959-52102649	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52000000-52003000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr10:52002200-52002800	Weak transcription	Fetal Intestine Small	intestine
3	chr10:52002400-52003800	Enhancers	K562	blood

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