Variant report

Variant	rs8029506
Chromosome Location	chr15:49566740-49566741
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49562115..49563825-chr15:49566654..49568505,2	K562	blood:
2	chr15:49558189..49560695-chr15:49563264..49567318,4	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10519211	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10519221	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10519229	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1055254	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1114003	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11630318	0.85[EUR][1000 genomes]
rs11632038	0.83[EUR][1000 genomes]
rs11632303	0.83[CEU][hapmap]
rs11632575	0.80[EUR][1000 genomes]
rs11633282	0.81[EUR][1000 genomes]
rs11634636	0.85[EUR][1000 genomes]
rs11635005	0.85[EUR][1000 genomes]
rs11635354	0.81[CEU][hapmap]
rs11635455	0.83[CEU][hapmap]
rs11638515	0.83[CEU][hapmap]
rs11638606	0.81[EUR][1000 genomes]
rs16962065	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16962067	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16962101	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16962112	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16962139	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16962146	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16962147	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16962166	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16962169	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16962171	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16962174	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16962175	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16962177	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16962187	1.00[CHB][hapmap]
rs16962189	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16962196	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16962202	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16962205	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16962209	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16962211	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16962213	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16962235	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16962236	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16962237	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16962238	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16962244	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16962256	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16962257	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs16962259	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16962262	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16962273	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16962274	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16962276	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16962288	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs16962296	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16962307	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16962308	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16962314	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16962327	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16962331	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16962416	1.00[CHB][hapmap]
rs17394420	0.81[CEU][hapmap]
rs17394970	0.83[CEU][hapmap]
rs17396119	0.83[CEU][hapmap]
rs17396536	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs17396612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17396747	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs17397211	0.83[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17473148	0.83[CEU][hapmap]
rs17473568	0.81[CEU][hapmap]
rs17475228	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17476361	0.85[EUR][1000 genomes]
rs17476940	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17477722	0.81[EUR][1000 genomes]
rs1835227	0.91[ASN][1000 genomes]
rs2059935	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2078024	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2127243	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2163097	0.91[ASN][1000 genomes]
rs2169931	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2279192	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2413958	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2899437	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3088333	0.81[CEU][hapmap]
rs35692325	0.85[EUR][1000 genomes]
rs3784630	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs57252806	0.81[EUR][1000 genomes]
rs57560518	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57749497	0.85[EUR][1000 genomes]
rs59112977	0.81[EUR][1000 genomes]
rs59356430	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7162633	0.82[EUR][1000 genomes]
rs7165168	0.82[EUR][1000 genomes]
rs7167474	0.85[EUR][1000 genomes]
rs7167852	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7168633	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7173759	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7176949	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7178101	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7179094	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7179907	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7181656	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7183899	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73392233	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73392262	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73394324	0.85[EUR][1000 genomes]
rs73394331	0.85[EUR][1000 genomes]
rs73394333	0.85[EUR][1000 genomes]
rs73394339	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73394355	0.85[EUR][1000 genomes]
rs73394357	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394359	0.83[EUR][1000 genomes]
rs73396206	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73396235	0.81[EUR][1000 genomes]
rs73398223	0.82[EUR][1000 genomes]
rs73398243	0.82[EUR][1000 genomes]
rs8025550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8027094	0.81[EUR][1000 genomes]
rs8028746	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8030457	0.82[EUR][1000 genomes]
rs8031680	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8033311	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8035829	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8029506	FGF7	cis	Muscle Skeletal	GTEx

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49520400-49595600	Weak transcription	Right Ventricle	heart
2	chr15:49528000-49576000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr15:49533800-49576200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr15:49535600-49574200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:49535600-49574200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr15:49535800-49566800	Weak transcription	Left Ventricle	heart
7	chr15:49535800-49575800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:49540000-49577600	Weak transcription	Small Intestine	intestine
9	chr15:49541600-49575000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr15:49541600-49595800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:49543800-49574200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr15:49548800-49575800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr15:49549400-49575200	Weak transcription	Hela-S3	cervix
14	chr15:49551000-49574200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr15:49551000-49575400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr15:49554800-49575400	Weak transcription	Fetal Lung	lung
17	chr15:49557200-49611800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:49557800-49569600	Weak transcription	Fetal Intestine Small	intestine
19	chr15:49557800-49575800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:49557800-49575800	Weak transcription	Fetal Stomach	stomach
21	chr15:49557800-49607600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr15:49558000-49575800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr15:49558000-49624400	Weak transcription	Esophagus	oesophagus
24	chr15:49558200-49611800	Weak transcription	Colonic Mucosa	Colon
25	chr15:49558400-49575800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr15:49558600-49568400	Weak transcription	Psoas Muscle	Psoas
27	chr15:49558600-49569000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr15:49558600-49574000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:49558600-49575400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr15:49558800-49574000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr15:49558800-49575200	Weak transcription	Fetal Intestine Large	intestine
32	chr15:49559000-49574600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:49559200-49581400	Weak transcription	Spleen	Spleen
34	chr15:49559600-49573800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr15:49559800-49574200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr15:49559800-49575200	Weak transcription	Primary B cells from cord blood	blood
37	chr15:49560000-49574000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr15:49560400-49568600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr15:49561000-49600800	Weak transcription	Pancreas	Pancrea
40	chr15:49561200-49575200	Weak transcription	Thymus	Thymus
41	chr15:49561600-49577800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr15:49562000-49595800	Weak transcription	HepG2	liver
43	chr15:49562200-49626000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr15:49562800-49571200	Weak transcription	Placenta	Placenta
45	chr15:49563000-49568200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr15:49563000-49576000	Weak transcription	Colon Smooth Muscle	Colon
47	chr15:49563200-49568400	Strong transcription	Primary T cells from cord blood	blood
48	chr15:49563400-49568400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:49563400-49568400	Weak transcription	Brain Anterior Caudate	brain
50	chr15:49563400-49572400	Weak transcription	Fetal Muscle Leg	muscle

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