Variant report

Variant	rs6670380
Chromosome Location	chr1:153044071-153044072
allele	A/C
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	chr1:153044071-153044121	A549	lung:	n/a
2	chr1:153044071-153044121	MCF10A-Er-Src	breast:	n/a
3	chr1:153044071-153044121	RPTEC	kidney:	n/a
4	chr1:153044071-153044121	H1-hESC	embryonic stem cell:	embryo
5	chr1:153044071-153044121	HCF	heart:	n/a
6	chr1:153044071-153044121	HEEpiC	esophagus:	n/a
7	chr1:153044071-153044121	PFSK-1	brain:	n/a
8	chr1:153044071-153044121	HCM	heart:	n/a
9	chr1:153044071-153044121	GM19239	blood:	n/a
10	chr1:153044071-153044121	BJ	skin:	n/a
11	chr1:153044071-153044121	GM06990	blood:	n/a
12	chr1:153044071-153044121	MCF-7	breast:	n/a
13	chr1:153044071-153044121	NH-A	brain:	n/a
14	chr1:153044071-153044121	HUVEC	blood vessel:	n/a
15	chr1:153044071-153044121	BE2_C	brain:	n/a
16	chr1:153044071-153044121	Hela-S3	cervix:	n/a
17	chr1:153044071-153044121	HMEC	breast:	n/a
18	chr1:153044071-153044121	HIPEpiC	eye:	n/a
19	chr1:153044071-153044121	CMK	blood:	n/a
20	chr1:153044071-153044121	Jurkat	blood:	n/a
21	chr1:153044071-153044121	T-47D	breast:	n/a
22	chr1:153044071-153044121	HRCEpiC	kidney:	n/a
23	chr1:153044071-153044121	SKMC	muscle:	n/a
24	chr1:153044071-153044121	HRE	kidney:	n/a
25	chr1:153044071-153044121	AG04450	lung:	fetal
26	chr1:153044071-153044121	U87	brain:	n/a
27	chr1:153044071-153044121	GM12891	blood:	n/a
28	chr1:153044071-153044121	Caco-2	colon:	n/a
29	chr1:153044071-153044121	SK-N-MC	brain:	n/a
30	chr1:153044071-153044121	K562	blood:	n/a
31	chr1:153044071-153044121	SK-N-SH	brain:	n/a
32	chr1:153044071-153044121	ECC-1	luminal epithelium:	n/a
33	chr1:153044071-153044121	HRPEpiC	eye:	n/a
34	chr1:153044071-153044121	HNPCEpiC	eye:	n/a
35	chr1:153044071-153044121	AG09319	gingival:	n/a
36	chr1:153044071-153044121	PrEC	prostate:	n/a
37	chr1:153044071-153044121	ovcar-3	ovarian:	n/a
38	chr1:153044071-153044121	HepG2	liver:	n/a
39	chr1:153044071-153044121	NHDF-neo	bronchial:	n/a
40	chr1:153044071-153044121	LNCaP	prostate:	n/a
41	chr1:153044071-153044121	HCT-116	colon:	n/a
42	chr1:153044071-153044121	HAEpiC	amniotic membrane:	n/a
43	chr1:153044071-153044121	NB4	blood:	n/a
44	chr1:153044071-153044121	AG10803	skin:	n/a
45	chr1:153044071-153044121	NHBE	bronchial:	n/a
46	chr1:153044071-153044121	SK-N-SH_RA	brain:	n/a
47	chr1:153044071-153044121	AoSMC	blood vessel:	n/a
48	chr1:153044071-153044121	PANC-1	pancreas:	n/a
49	chr1:153044071-153044121	HPAEpiC	pulmonary alveolar:	n/a
50	chr1:153044071-153044121	SAEC	small airway:	n/a

No data

Variant related genes	Relation type
SPRR2B	CpG island

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10888528	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10888529	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1108410	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11205179	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11205180	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11205181	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11205182	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205185	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11205186	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11205187	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205188	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205189	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11485498	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11488175	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11576797	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11590835	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11812015	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12079087	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12082627	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12083211	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1500937	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1577960	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1995308	0.94[EUR][1000 genomes]
rs3737864	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4845513	0.93[EUR][1000 genomes]
rs55906223	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56158137	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56412380	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61811886	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61811902	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61811903	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587724	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6587725	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660797	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6660878	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6661059	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6661063	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6664380	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6673356	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6675009	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6677674	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6680061	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6683514	0.82[EUR][1000 genomes]
rs6686526	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6689066	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6689510	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692062	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698361	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7531076	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7532166	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7540609	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7543689	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548977	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7551791	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013433	chr1:152619305-153262215	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv535170	chr1:152619305-153262215	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1001834	chr1:152648853-153279143	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
4	nsv547899	chr1:152672005-153245082	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
6	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
7	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv1003756	chr1:152944201-153044621	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv464017	chr1:153033406-153099345	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv547920	chr1:153033406-153099345	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv946395	chr1:153042430-153069958	Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6670380	SPRR1B	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153032200-153053400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:153044000-153044600	Enhancers	Esophagus	oesophagus
3	chr1:153044000-153045400	Enhancers	K562	blood

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