Variant report

Variant	rs7983632
Chromosome Location	chr13:97845419-97845420
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:97773536..97776027-chr13:97843320..97845998,2	MCF-7	breast:
2	chr13:97843816..97845941-chr13:97847770..97849726,2	K562	blood:
3	chr13:97844488..97847084-chr13:97911183..97912981,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10220223	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1410758	0.82[ASN][1000 genomes]
rs16953899	0.83[EUR][1000 genomes]
rs16953900	0.83[EUR][1000 genomes]
rs17235537	0.82[ASN][1000 genomes]
rs17235551	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17301278	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17301299	0.82[ASN][1000 genomes]
rs17301306	0.82[ASN][1000 genomes]
rs3825522	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4120984	0.82[ASN][1000 genomes]
rs4445760	0.83[EUR][1000 genomes]
rs4456365	0.86[EUR][1000 genomes]
rs5024203	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57348783	0.88[EUR][1000 genomes]
rs57806253	0.88[EUR][1000 genomes]
rs59695980	0.86[EUR][1000 genomes]
rs61107763	0.85[EUR][1000 genomes]
rs6491338	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6491339	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6491341	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7317886	0.81[EUR][1000 genomes]
rs7317904	0.88[EUR][1000 genomes]
rs7322677	0.83[EUR][1000 genomes]
rs7322973	0.83[EUR][1000 genomes]
rs7329695	0.83[TSI][hapmap]
rs7331281	0.86[EUR][1000 genomes]
rs7332127	0.86[EUR][1000 genomes]
rs7332327	0.81[EUR][1000 genomes]
rs7337250	0.88[EUR][1000 genomes]
rs7338056	1.00[CEU][hapmap];0.84[CHD][hapmap];0.96[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs7338420	0.88[EUR][1000 genomes]
rs7338629	0.88[EUR][1000 genomes]
rs7983895	0.83[EUR][1000 genomes]
rs7984898	1.00[ASN][1000 genomes]
rs7988998	0.88[EUR][1000 genomes]
rs7989356	0.85[EUR][1000 genomes]
rs7990235	0.88[EUR][1000 genomes]
rs7991020	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7995449	0.86[EUR][1000 genomes]
rs7997476	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7997574	0.86[EUR][1000 genomes]
rs8000282	0.85[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9513210	0.83[EUR][1000 genomes]
rs9513211	0.83[EUR][1000 genomes]
rs9513214	0.90[EUR][1000 genomes]
rs9513215	0.88[EUR][1000 genomes]
rs9513216	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9513219	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9513221	0.85[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9516834	0.81[EUR][1000 genomes]
rs9516835	0.83[EUR][1000 genomes]
rs9516843	0.83[EUR][1000 genomes]
rs9516844	0.86[EUR][1000 genomes]
rs9516845	0.88[EUR][1000 genomes]
rs9516846	0.88[EUR][1000 genomes]
rs9516847	0.88[EUR][1000 genomes]
rs9516848	0.88[EUR][1000 genomes]
rs9516849	0.88[EUR][1000 genomes]
rs9516850	0.88[EUR][1000 genomes]
rs9516853	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9516857	0.80[LWK][hapmap];0.81[MKK][hapmap]
rs9516864	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9516867	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9516870	0.93[ASW][hapmap];0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.90[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9516871	0.85[CEU][hapmap];0.93[CHB][hapmap];0.87[AMR][1000 genomes]
rs9516872	0.85[CEU][hapmap];0.93[CHB][hapmap];0.85[AMR][1000 genomes]
rs9584530	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1137	chr13:97803474-97848814	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7983632	RAP2A	cis	parietal	SCAN
rs7983632	GPC5	cis	parietal	SCAN
rs7983632	FARP1	cis	lymphoblastoid	seeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97841000-97846400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr13:97841400-97845800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:97841400-97846000	Weak transcription	NHEK	skin
4	chr13:97842000-97846400	Enhancers	K562	blood
5	chr13:97842400-97846800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr13:97842800-97847600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:97843000-97850600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:97843200-97847200	Enhancers	Stomach Mucosa	stomach
9	chr13:97843400-97847600	Enhancers	Placenta	Placenta
10	chr13:97843600-97847200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr13:97843800-97846600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:97844000-97847600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr13:97844200-97846000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr13:97844200-97846000	Weak transcription	HSMM	muscle
15	chr13:97844200-97846200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr13:97844200-97849000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:97844400-97845800	Weak transcription	HSMMtube	muscle
18	chr13:97844400-97846600	Weak transcription	Brain Substantia Nigra	brain
19	chr13:97844400-97846600	Weak transcription	Fetal Muscle Leg	muscle
20	chr13:97844400-97846800	Weak transcription	Brain Hippocampus Middle	brain
21	chr13:97844800-97846600	Weak transcription	Brain Anterior Caudate	brain
22	chr13:97844800-97846800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr13:97845000-97846000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr13:97845200-97845800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr13:97845200-97846000	Enhancers	Gastric	stomach
26	chr13:97845200-97847800	Enhancers	HMEC	breast
27	chr13:97845200-97847800	Enhancers	HUVEC	blood vessel
28	chr13:97845400-97846200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr13:97845400-97847200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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