Variant report

Variant	rs6848337
Chromosome Location	chr4:100811196-100811197
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:100802165..100805574-chr4:100807922..100811974,3	K562	blood:
2	chr4:100810623..100827791-chr4:100865444..100874425,55	K562	blood:
3	chr4:100799869..100822436-chr4:100866015..100873106,54	K562	blood:

Variant related genes	Relation type
ENSG00000164032	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000164031	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10026048	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11097676	0.95[JPT][hapmap]
rs11097677	0.95[JPT][hapmap]
rs11732776	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11935024	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11935399	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11939538	0.82[LWK][hapmap]
rs1365491	0.95[JPT][hapmap]
rs1365492	0.88[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1365495	0.91[JPT][hapmap]
rs17029563	0.95[JPT][hapmap]
rs17029583	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs17029662	0.82[LWK][hapmap]
rs1863608	0.90[JPT][hapmap]
rs1896166	0.94[ASW][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1961323	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1972698	0.95[JPT][hapmap]
rs2098937	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2114442	0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.96[ASN][1000 genomes]
rs2282588	0.91[JPT][hapmap]
rs2298735	0.88[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28404345	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2866174	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2866180	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28679452	0.81[ASN][1000 genomes]
rs28706589	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3756087	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3775499	0.95[JPT][hapmap]
rs3775500	0.95[JPT][hapmap]
rs3775501	0.95[JPT][hapmap]
rs3775511	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4699764	0.86[JPT][hapmap]
rs4699765	0.90[JPT][hapmap]
rs60978748	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6532833	0.95[JPT][hapmap]
rs6532835	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.98[ASN][1000 genomes]
rs6532836	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6811559	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6814895	0.95[JPT][hapmap]
rs6849599	0.89[ASW][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6854536	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs715239	0.91[JPT][hapmap]
rs7675947	0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7676564	0.94[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7684872	0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.96[ASN][1000 genomes]
rs7686428	0.94[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7689566	0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7692416	0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs919132	0.89[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs919133	0.89[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9307242	0.87[EUR][1000 genomes];0.92[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	nsv879661	chr4:100805207-100869635	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6848337	DAPP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100789600-100814200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:100790400-100814600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:100798400-100814200	Weak transcription	Stomach Mucosa	stomach
4	chr4:100799000-100813400	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr4:100799400-100812200	Weak transcription	HepG2	liver
6	chr4:100799600-100814800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:100800200-100814200	Weak transcription	Hela-S3	cervix
8	chr4:100801800-100814400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:100801800-100814600	Weak transcription	Psoas Muscle	Psoas
10	chr4:100802000-100812200	Weak transcription	Brain Angular Gyrus	brain
11	chr4:100802000-100814200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:100802000-100814200	Weak transcription	Aorta	Aorta
13	chr4:100802000-100814200	Weak transcription	Brain Germinal Matrix	brain
14	chr4:100802000-100814200	Weak transcription	Spleen	Spleen
15	chr4:100802000-100814200	Weak transcription	NHLF	lung
16	chr4:100802000-100814400	Weak transcription	Pancreas	Pancrea
17	chr4:100802200-100812800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:100802200-100814000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:100802200-100814200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:100802200-100814200	Weak transcription	Colonic Mucosa	Colon
21	chr4:100802200-100814200	Weak transcription	A549	lung
22	chr4:100802200-100814600	Weak transcription	Fetal Stomach	stomach
23	chr4:100802200-100814800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:100802200-100814800	Weak transcription	Esophagus	oesophagus
25	chr4:100802200-100814800	Weak transcription	Lung	lung
26	chr4:100802400-100813600	Weak transcription	Small Intestine	intestine
27	chr4:100802400-100814000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:100802400-100814200	Weak transcription	Ovary	ovary
29	chr4:100802400-100814200	Weak transcription	Right Ventricle	heart
30	chr4:100802400-100814200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:100802400-100814200	Weak transcription	Thymus	Thymus
32	chr4:100802400-100814400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr4:100802800-100812400	Weak transcription	Fetal Brain Female	brain
34	chr4:100803000-100814200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:100803000-100814200	Weak transcription	Fetal Brain Male	brain
36	chr4:100803000-100814200	Weak transcription	HSMMtube	muscle
37	chr4:100803200-100812400	Weak transcription	Primary T cells from cord blood	blood
38	chr4:100803200-100812400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr4:100803200-100814000	Weak transcription	Brain Substantia Nigra	brain
40	chr4:100803200-100814400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:100803400-100812400	Weak transcription	K562	blood
42	chr4:100803400-100813400	Weak transcription	Fetal Heart	heart
43	chr4:100803400-100813600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr4:100803600-100812200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr4:100803600-100814200	Weak transcription	Brain Hippocampus Middle	brain
46	chr4:100804400-100814400	Weak transcription	Fetal Kidney	kidney
47	chr4:100805200-100814400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:100805400-100812600	Weak transcription	Brain Anterior Caudate	brain
49	chr4:100805400-100814400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr4:100805400-100814400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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