Variant report

Variant	rs73396238
Chromosome Location	chr15:49639343-49639344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49635452..49638613-chr15:49638913..49642662,3	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1023683	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10519221	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519226	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10519227	0.86[EUR][1000 genomes]
rs11630318	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632038	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632211	1.00[ASN][1000 genomes]
rs11632303	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632575	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633282	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11634636	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635005	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635308	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635354	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635455	1.00[ASN][1000 genomes]
rs11635814	1.00[ASN][1000 genomes]
rs11638314	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11638515	0.85[EUR][1000 genomes]
rs11638606	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11639423	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12592277	0.87[EUR][1000 genomes]
rs12913966	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17394420	1.00[ASN][1000 genomes]
rs17394970	1.00[ASN][1000 genomes]
rs17396119	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17396536	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17396747	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17397211	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400427	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17400706	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17400916	1.00[ASN][1000 genomes]
rs17473148	1.00[ASN][1000 genomes]
rs17473568	1.00[ASN][1000 genomes]
rs17476361	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17476940	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17477722	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17478618	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17479003	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17479205	0.86[EUR][1000 genomes]
rs17479289	0.86[EUR][1000 genomes]
rs2078024	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28393768	1.00[ASN][1000 genomes]
rs28408092	1.00[ASN][1000 genomes]
rs28409376	1.00[ASN][1000 genomes]
rs28430272	1.00[ASN][1000 genomes]
rs28484276	1.00[ASN][1000 genomes]
rs28669217	1.00[ASN][1000 genomes]
rs3088333	1.00[ASN][1000 genomes]
rs35692325	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57252806	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57749497	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57785991	1.00[ASN][1000 genomes]
rs59112977	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59356430	0.80[EUR][1000 genomes]
rs60594237	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61259878	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61442055	1.00[ASN][1000 genomes]
rs7162633	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165168	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7167474	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7168316	0.86[EUR][1000 genomes]
rs7177624	1.00[ASN][1000 genomes]
rs73390343	1.00[ASN][1000 genomes]
rs73390360	1.00[ASN][1000 genomes]
rs73390362	1.00[ASN][1000 genomes]
rs73390384	1.00[ASN][1000 genomes]
rs73390392	1.00[ASN][1000 genomes]
rs73392236	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392249	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392256	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392277	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392288	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394324	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394331	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73394333	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394339	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394355	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394359	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73396206	0.80[EUR][1000 genomes]
rs73396235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398223	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398243	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398272	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398276	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73398284	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73400205	0.85[EUR][1000 genomes]
rs73408143	1.00[ASN][1000 genomes]
rs8027094	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8030457	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8033311	0.80[EUR][1000 genomes]
rs8040716	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039220	chr15:49492509-49644261	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1039368	chr15:49566094-49764066	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv833002	chr15:49621400-49781799	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription 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	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73396238	FGF7	cis	Muscle Skeletal	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49612600-49639400	Weak transcription	Right Ventricle	heart
2	chr15:49613600-49643000	Weak transcription	Pancreas	Pancrea
3	chr15:49613800-49639800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr15:49614200-49640200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:49614200-49640200	Weak transcription	Small Intestine	intestine
6	chr15:49616000-49641400	Weak transcription	Fetal Lung	lung
7	chr15:49622600-49642600	Weak transcription	HSMM	muscle
8	chr15:49623000-49640200	Weak transcription	Primary T cells from cord blood	blood
9	chr15:49623200-49646000	Weak transcription	Left Ventricle	heart
10	chr15:49623400-49639600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr15:49623400-49639800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr15:49623400-49640000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr15:49623400-49647600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:49623800-49640200	Weak transcription	Liver	Liver
15	chr15:49628600-49640800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:49632000-49640200	Weak transcription	Ovary	ovary
17	chr15:49632400-49639600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr15:49632400-49643000	Weak transcription	Lung	lung
19	chr15:49632600-49640200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:49635200-49640000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:49636000-49640400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr15:49636000-49640600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr15:49636200-49640200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr15:49636200-49640400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr15:49636200-49645200	Weak transcription	HUVEC	blood vessel
26	chr15:49637000-49640600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr15:49637000-49640600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:49637600-49644000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr15:49638800-49641000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:49638800-49642600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr15:49638800-49643000	Weak transcription	Aorta	Aorta

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