Variant report

Variant	rs17670707
Chromosome Location	chr22:30877936-30877937
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr22:30877764-30878032	MCF10A-Er-Src	breast:	n/a	chr22:30877936-30877944 chr22:30877933-30877941 chr22:30877934-30877946
2	FOS	chr22:30877776-30878055	MCF10A-Er-Src	breast:	n/a	chr22:30877936-30877944 chr22:30877933-30877941 chr22:30877934-30877946
3	CEBPB	chr22:30877864-30878131	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr22:30877897-30878113	IMR90	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:30877907-30877957	HRPEpiC	eye:	n/a
2	chr22:30877907-30877957	SK-N-MC	brain:	n/a
3	chr22:30877907-30877957	HPAEpiC	pulmonary alveolar:	n/a
4	chr22:30877907-30877957	NHBE	bronchial:	n/a
5	chr22:30877907-30877957	AG04449	skin:	fetal
6	chr22:30877907-30877957	HepG2	liver:	n/a
7	chr22:30877907-30877957	PrEC	prostate:	n/a
8	chr22:30877907-30877957	HMEC	breast:	n/a
9	chr22:30877907-30877957	AG09319	gingival:	n/a
10	chr22:30877907-30877957	SAEC	small airway:	n/a
11	chr22:30877907-30877957	PANC-1	pancreas:	n/a
12	chr22:30877907-30877957	GM12892	blood:	n/a
13	chr22:30877907-30877957	HCT-116	colon:	n/a
14	chr22:30877907-30877957	K562	blood:	n/a
15	chr22:30877907-30877957	HNPCEpiC	eye:	n/a
16	chr22:30877907-30877957	PFSK-1	brain:	n/a
17	chr22:30877907-30877957	GM12891	blood:	n/a
18	chr22:30877907-30877957	HUVEC	blood vessel:	n/a
19	chr22:30877907-30877957	HIPEpiC	eye:	n/a
20	chr22:30877907-30877957	HL-60	blood:	n/a
21	chr22:30877907-30877957	ovcar-3	ovarian:	n/a
22	chr22:30877907-30877957	HCM	heart:	n/a
23	chr22:30877907-30877957	ProgFib	skin:	n/a
24	chr22:30877907-30877957	HEK293	kidney:	embryo
25	chr22:30877907-30877957	HRCEpiC	kidney:	n/a
26	chr22:30877907-30877957	NH-A	brain:	n/a
27	chr22:30877907-30877957	HCF	heart:	n/a
28	chr22:30877907-30877957	Jurkat	blood:	n/a
29	chr22:30877907-30877957	IMR90	lung:	fetal
30	chr22:30877907-30877957	SKMC	muscle:	n/a
31	chr22:30877907-30877957	ECC-1	luminal epithelium:	n/a
32	chr22:30877907-30877957	AG09309	skin:	n/a
33	chr22:30877907-30877957	SK-N-SH	brain:	n/a
34	chr22:30877907-30877957	GM19239	blood:	n/a
35	chr22:30877907-30877957	GM12878	blood:	n/a
36	chr22:30877907-30877957	MCF10A-Er-Src	breast:	n/a
37	chr22:30877907-30877957	NB4	blood:	n/a
38	chr22:30877907-30877957	HCPEpiC	choroid plexus:	n/a
39	chr22:30877907-30877957	BE2_C	brain:	n/a
40	chr22:30877907-30877957	HEEpiC	esophagus:	n/a
41	chr22:30877907-30877957	AoSMC	blood vessel:	n/a
42	chr22:30877907-30877957	NHDF-neo	bronchial:	n/a
43	chr22:30877907-30877957	Caco-2	colon:	n/a
44	chr22:30877907-30877957	NT2-D1	testis:	n/a
45	chr22:30877907-30877957	BJ	skin:	n/a
46	chr22:30877907-30877957	U87	brain:	n/a
47	chr22:30877907-30877957	HAEpiC	amniotic membrane:	n/a
48	chr22:30877907-30877957	Hepatocyte	liver:	n/a
49	chr22:30877907-30877957	A549	lung:	n/a
50	chr22:30877907-30877957	MCF-7	breast:	n/a

No data

Variant related genes	Relation type
ENSG00000181123	TF binding region
SDC4P	TF binding region
SDC4P	CpG island
ENSG00000181123	CpG island

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1001409	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1008801	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11912737	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11914168	1.00[JPT][hapmap]
rs12484688	1.00[JPT][hapmap]
rs13053262	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13053759	0.81[AMR][1000 genomes]
rs13054004	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13054381	0.81[AMR][1000 genomes]
rs13750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16988720	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16988803	1.00[JPT][hapmap]
rs16988810	1.00[JPT][hapmap]
rs16988814	1.00[JPT][hapmap]
rs17670808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17738527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17738540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859479	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1986969	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2023967	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2189835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412989	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2412990	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35102600	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35530794	1.00[ASN][1000 genomes]
rs35841307	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4602314	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820019	1.00[JPT][hapmap]
rs4820856	1.00[YRI][hapmap]
rs4820869	1.00[JPT][hapmap]
rs4820874	1.00[JPT][hapmap]
rs5749104	1.00[YRI][hapmap]
rs60308761	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6518693	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6518695	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7284873	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285878	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7286523	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286807	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7287003	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7287135	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7287596	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7287943	0.93[EUR][1000 genomes]
rs7289277	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289828	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7291870	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7292573	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8136225	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8136992	1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8137267	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8137718	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8138759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8141108	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8141286	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8141318	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8141428	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8141671	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886615	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs886616	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs886617	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9306262	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9606735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606738	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606739	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606744	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9606745	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9606746	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606747	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9606749	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9608935	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608936	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608938	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9608940	1.00[ASN][1000 genomes]
rs9608941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608946	0.93[EUR][1000 genomes]
rs9608955	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608956	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9608960	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9608964	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9608966	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9608967	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9608968	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608972	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17670707	SEC14L4	cis	lung	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30872800-30881400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:30874600-30894000	Weak transcription	Right Atrium	heart
3	chr22:30877200-30878400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr22:30877400-30878200	Enhancers	Osteobl	bone
5	chr22:30877600-30878000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr22:30877600-30878200	Enhancers	HSMM	muscle
7	chr22:30877800-30878000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr22:30877800-30878000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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