Variant report

Variant	rs12261664
Chromosome Location	chr10:90636240-90636241
allele	A/G
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:1)
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	chr10:90636202-90636252	RPTEC	kidney:	n/a
2	chr10:90636202-90636252	MCF10A-Er-Src	breast:	n/a
3	chr10:90636202-90636252	AG09309	skin:	n/a
4	chr10:90636202-90636252	NHDF-neo	bronchial:	n/a
5	chr10:90636202-90636252	ProgFib	skin:	n/a
6	chr10:90636202-90636252	NHBE	bronchial:	n/a
7	chr10:90636202-90636252	HPAEpiC	pulmonary alveolar:	n/a
8	chr10:90636202-90636252	H1-hESC	embryonic stem cell:	embryo
9	chr10:90636202-90636252	SAEC	small airway:	n/a
10	chr10:90636202-90636252	AG09319	gingival:	n/a
11	chr10:90636202-90636252	HRE	kidney:	n/a
12	chr10:90636202-90636252	GM12891	blood:	n/a
13	chr10:90636202-90636252	HCPEpiC	choroid plexus:	n/a
14	chr10:90636202-90636252	A549	lung:	n/a
15	chr10:90636202-90636252	HCT-116	colon:	n/a
16	chr10:90636202-90636252	PFSK-1	brain:	n/a
17	chr10:90636202-90636252	CMK	blood:	n/a
18	chr10:90636202-90636252	GM12878	blood:	n/a
19	chr10:90636202-90636252	U87	brain:	n/a
20	chr10:90636202-90636252	HEK293	kidney:	embryo
21	chr10:90636202-90636252	HEEpiC	esophagus:	n/a
22	chr10:90636202-90636252	HCF	heart:	n/a
23	chr10:90636202-90636252	Hela-S3	cervix:	n/a
24	chr10:90636202-90636252	K562	blood:	n/a
25	chr10:90636202-90636252	AG04450	lung:	fetal
26	chr10:90636202-90636252	BE2_C	brain:	n/a
27	chr10:90636202-90636252	HMEC	breast:	n/a
28	chr10:90636202-90636252	HAEpiC	amniotic membrane:	n/a
29	chr10:90636202-90636252	HL-60	blood:	n/a
30	chr10:90636202-90636252	AG04449	skin:	fetal
31	chr10:90636202-90636252	PrEC	prostate:	n/a
32	chr10:90636202-90636252	HRPEpiC	eye:	n/a
33	chr10:90636202-90636252	IMR90	lung:	fetal
34	chr10:90636202-90636252	SKMC	muscle:	n/a
35	chr10:90636202-90636252	BJ	skin:	n/a
36	chr10:90636202-90636252	MCF-7	breast:	n/a
37	chr10:90636202-90636252	HepG2	liver:	n/a
38	chr10:90636202-90636252	ECC-1	luminal epithelium:	n/a
39	chr10:90636202-90636252	Caco-2	colon:	n/a
40	chr10:90636202-90636252	GM19239	blood:	n/a
41	chr10:90636202-90636252	NB4	blood:	n/a
42	chr10:90636202-90636252	SK-N-SH	brain:	n/a
43	chr10:90636202-90636252	Jurkat	blood:	n/a
44	chr10:90636202-90636252	HNPCEpiC	eye:	n/a
45	chr10:90636202-90636252	Hepatocyte	liver:	n/a
46	chr10:90636202-90636252	GM06990	blood:	n/a
47	chr10:90636202-90636252	NT2-D1	testis:	n/a
48	chr10:90636202-90636252	HCM	heart:	n/a
49	chr10:90636202-90636252	HIPEpiC	eye:	n/a
50	chr10:90636202-90636252	AoSMC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:90634887..90637855-chr10:90638729..90640945,2	MCF-7	breast:

No data

Variant related genes	Relation type
STAMBPL1	CpG island
ENSG00000138134	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10509558	0.86[ASN][1000 genomes]
rs10509559	0.86[ASN][1000 genomes]
rs11202875	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11202885	0.86[ASN][1000 genomes]
rs12242274	0.86[ASN][1000 genomes]
rs12243282	0.86[ASN][1000 genomes]
rs12243621	0.86[ASN][1000 genomes]
rs12247227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12260572	0.86[ASN][1000 genomes]
rs17113724	0.86[ASN][1000 genomes]
rs17113812	1.00[EUR][1000 genomes]
rs17113942	0.86[ASN][1000 genomes]
rs17113959	0.86[ASN][1000 genomes]
rs17114000	0.86[ASN][1000 genomes]
rs17114016	0.86[ASN][1000 genomes]
rs17114020	0.86[ASN][1000 genomes]
rs17114024	0.86[ASN][1000 genomes]
rs17114057	0.86[ASN][1000 genomes]
rs2231780	0.86[ASN][1000 genomes]
rs2231785	0.86[ASN][1000 genomes]
rs2231786	0.86[ASN][1000 genomes]
rs3898173	0.86[ASN][1000 genomes]
rs3898174	0.86[ASN][1000 genomes]
rs58673564	0.86[ASN][1000 genomes]
rs73364839	0.86[ASN][1000 genomes]
rs73364841	0.86[ASN][1000 genomes]
rs73364851	0.86[ASN][1000 genomes]
rs74147301	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs74150103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74150104	1.00[EUR][1000 genomes]
rs7899463	1.00[EUR][1000 genomes]
rs7908124	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7911566	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529324	chr10:90198865-90738588	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv831942	chr10:90564697-90730352	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90630200-90639000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr10:90633800-90637400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:90634800-90638000	Weak transcription	NHLF	lung
4	chr10:90635000-90639200	Weak transcription	Fetal Heart	heart
5	chr10:90635000-90639400	Weak transcription	Ovary	ovary

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