Variant report

Variant	rs585470
Chromosome Location	chr1:225427177-225427178
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:0)
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	chr1:225427173-225427223	GM06990	blood:	n/a
2	chr1:225427173-225427223	H1-hESC	embryonic stem cell:	embryo
3	chr1:225427173-225427223	MCF10A-Er-Src	breast:	n/a
4	chr1:225427173-225427223	PANC-1	pancreas:	n/a
5	chr1:225427173-225427223	HRE	kidney:	n/a
6	chr1:225427173-225427223	SK-N-SH	brain:	n/a
7	chr1:225427173-225427223	Caco-2	colon:	n/a
8	chr1:225427173-225427223	HepG2	liver:	n/a
9	chr1:225427173-225427223	T-47D	breast:	n/a
10	chr1:225427173-225427223	HAEpiC	amniotic membrane:	n/a
11	chr1:225427173-225427223	CMK	blood:	n/a
12	chr1:225427173-225427223	SK-N-MC	brain:	n/a
13	chr1:225427173-225427223	K562	blood:	n/a
14	chr1:225427173-225427223	AG09319	gingival:	n/a
15	chr1:225427173-225427223	AG10803	skin:	n/a
16	chr1:225427173-225427223	GM12892	blood:	n/a
17	chr1:225427173-225427223	U87	brain:	n/a
18	chr1:225427173-225427223	GM19239	blood:	n/a
19	chr1:225427173-225427223	A549	lung:	n/a
20	chr1:225427173-225427223	Hela-S3	cervix:	n/a
21	chr1:225427173-225427223	NHDF-neo	bronchial:	n/a
22	chr1:225427173-225427223	HIPEpiC	eye:	n/a
23	chr1:225427173-225427223	Jurkat	blood:	n/a
24	chr1:225427173-225427223	ProgFib	skin:	n/a
25	chr1:225427173-225427223	ovcar-3	ovarian:	n/a
26	chr1:225427173-225427223	ECC-1	luminal epithelium:	n/a
27	chr1:225427173-225427223	PFSK-1	brain:	n/a
28	chr1:225427173-225427223	AG04449	skin:	fetal
29	chr1:225427173-225427223	SK-N-SH_RA	brain:	n/a
30	chr1:225427173-225427223	HRCEpiC	kidney:	n/a
31	chr1:225427173-225427223	HUVEC	blood vessel:	n/a
32	chr1:225427173-225427223	HEEpiC	esophagus:	n/a
33	chr1:225427173-225427223	NB4	blood:	n/a
34	chr1:225427173-225427223	HCPEpiC	choroid plexus:	n/a
35	chr1:225427173-225427223	NT2-D1	testis:	n/a
36	chr1:225427173-225427223	HCF	heart:	n/a
37	chr1:225427173-225427223	HEK293	kidney:	embryo
38	chr1:225427173-225427223	HCM	heart:	n/a
39	chr1:225427173-225427223	HNPCEpiC	eye:	n/a
40	chr1:225427173-225427223	HL-60	blood:	n/a
41	chr1:225427173-225427223	MCF-7	breast:	n/a
42	chr1:225427173-225427223	GM12878	blood:	n/a
43	chr1:225427173-225427223	GM12891	blood:	n/a
44	chr1:225427173-225427223	HCT-116	colon:	n/a
45	chr1:225427173-225427223	AG09309	skin:	n/a
46	chr1:225427173-225427223	SAEC	small airway:	n/a
47	chr1:225427173-225427223	NH-A	brain:	n/a
48	chr1:225427173-225427223	Hepatocyte	liver:	n/a
49	chr1:225427173-225427223	AG04450	lung:	fetal
50	chr1:225427173-225427223	LNCaP	prostate:	n/a

No data

Variant related genes	Relation type
DNAH14	CpG island

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1067206	0.89[ASN][1000 genomes]
rs10799296	0.91[ASN][1000 genomes]
rs10915791	0.89[ASN][1000 genomes]
rs10915797	0.92[ASN][1000 genomes]
rs10915798	0.92[ASN][1000 genomes]
rs10915802	0.92[ASN][1000 genomes]
rs10915803	0.92[ASN][1000 genomes]
rs10915806	0.88[ASN][1000 genomes]
rs12064555	0.90[ASN][1000 genomes]
rs12068189	0.90[ASN][1000 genomes]
rs12068193	0.90[ASN][1000 genomes]
rs12077485	0.92[ASN][1000 genomes]
rs12077966	0.89[ASN][1000 genomes]
rs12090119	0.89[ASN][1000 genomes]
rs12097990	0.92[ASN][1000 genomes]
rs12728007	0.92[ASN][1000 genomes]
rs12733733	0.90[ASN][1000 genomes]
rs12754230	0.92[ASN][1000 genomes]
rs1480101	0.89[ASN][1000 genomes]
rs1480107	0.90[ASN][1000 genomes]
rs2035302	0.89[ASN][1000 genomes]
rs34248528	0.92[ASN][1000 genomes]
rs4653608	0.90[ASN][1000 genomes]
rs4653610	0.90[ASN][1000 genomes]
rs56332582	0.90[ASN][1000 genomes]
rs584720	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs590744	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs596036	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs599355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs608979	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61851476	0.85[ASN][1000 genomes]
rs61851519	0.92[ASN][1000 genomes]
rs621210	0.93[ASN][1000 genomes]
rs625391	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs625428	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs633544	0.92[ASN][1000 genomes]
rs634342	0.92[ASN][1000 genomes]
rs634895	0.92[ASN][1000 genomes]
rs662897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666735	0.89[ASN][1000 genomes]
rs669326	0.92[ASN][1000 genomes]
rs6693785	0.92[ASN][1000 genomes]
rs673897	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs674025	0.96[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs71646708	0.91[ASN][1000 genomes]
rs7536245	0.88[ASN][1000 genomes]
rs7541259	0.92[ASN][1000 genomes]
rs7555756	0.92[ASN][1000 genomes]
rs785383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9887766	0.90[ASN][1000 genomes]
rs9887975	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998899	chr1:225210813-225496353	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv468205	chr1:225304971-225476025	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv549264	chr1:225304971-225476025	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv945672	chr1:225339532-225561349	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv873226	chr1:225347689-225555602	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv832703	chr1:225375953-225520216	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1014968	chr1:225389490-225459008	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
8	nsv1005481	chr1:225389490-225462887	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
9	nsv997904	chr1:225389490-225466637	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1002430	chr1:225389490-225471683	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv2762171	chr1:225390933-225463772	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
12	nsv549265	chr1:225395959-225462346	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
13	esv1805729	chr1:225404951-225526778	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv2757774	chr1:225404951-225526778	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv2759002	chr1:225404951-225526778	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv428312	chr1:225404951-225526778	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 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	chr1:225426200-225427200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:225426800-225430600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:225427000-225427400	Enhancers	Pancreas	Pancrea

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