Variant report

Variant	rs11732776
Chromosome Location	chr4:100854329-100854330
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr4:100854246-100854400	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:100814544..100816576-chr4:100853046..100854892,3	K562	blood:
2	chr4:100850716..100855335-chr4:100865818..100872882,15	K562	blood:
3	chr4:100854185..100858103-chr4:100869055..100872773,4	MCF-7	breast:
4	chr4:100814281..100816576-chr4:100852313..100854892,3	K562	blood:
5	chr4:100830733..100833112-chr4:100854057..100856497,2	K562	blood:

No data

Variant related genes	Relation type
DNAJB14	TF binding region
ENSG00000245322	Chromatin interaction
ENSG00000109270	Chromatin interaction
ENSG00000164032	Chromatin interaction
ENSG00000164031	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10026048	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11097676	0.95[JPT][hapmap]
rs11097677	0.95[JPT][hapmap]
rs11935024	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11935399	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1365491	0.95[JPT][hapmap]
rs1365492	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1365495	0.91[JPT][hapmap]
rs17029563	0.95[JPT][hapmap]
rs17029583	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1863608	0.91[JPT][hapmap]
rs1896166	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1961323	0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1972698	0.95[JPT][hapmap]
rs2070738	0.89[CEU][hapmap]
rs2098937	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2114442	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2282588	0.91[JPT][hapmap]
rs2298735	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28404345	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2866174	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2866180	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28706589	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756087	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3775499	0.95[JPT][hapmap]
rs3775500	0.95[JPT][hapmap]
rs3775501	0.95[JPT][hapmap]
rs3775511	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4699764	0.86[JPT][hapmap]
rs4699765	0.91[JPT][hapmap]
rs60978748	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6532833	0.95[JPT][hapmap]
rs6532835	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6532836	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6811559	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6814895	0.95[JPT][hapmap]
rs6848337	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]
rs6849599	1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6854536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs715239	0.91[JPT][hapmap]
rs7675947	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7676564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7684872	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7686428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7689566	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7692416	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs919132	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs919133	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9307242	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[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	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
2	nsv879662	chr4:100849466-100876648	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11732776	DAPP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100816000-100867000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:100816000-100867000	Weak transcription	Lung	lung
3	chr4:100816200-100866200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:100820000-100866200	Weak transcription	Fetal Heart	heart
5	chr4:100824000-100865800	Weak transcription	Psoas Muscle	Psoas
6	chr4:100824400-100866000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:100827600-100856400	Weak transcription	Brain Substantia Nigra	brain
8	chr4:100828800-100866200	Weak transcription	Stomach Mucosa	stomach
9	chr4:100829200-100856400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:100829200-100866600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:100829400-100856200	Weak transcription	HepG2	liver
12	chr4:100829600-100866200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:100836600-100856800	Weak transcription	Spleen	Spleen
14	chr4:100839200-100855600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:100839200-100857400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:100840000-100862600	Weak transcription	K562	blood
17	chr4:100840200-100864600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:100840200-100865800	Weak transcription	Ovary	ovary
19	chr4:100840200-100866000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:100840200-100867000	Weak transcription	Gastric	stomach
21	chr4:100840400-100855000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:100840400-100855200	Weak transcription	Colon Smooth Muscle	Colon
23	chr4:100840400-100856400	Weak transcription	Fetal Kidney	kidney
24	chr4:100840400-100856400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr4:100840400-100856800	Weak transcription	Thymus	Thymus
26	chr4:100840400-100864600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:100840400-100866800	Weak transcription	Aorta	Aorta
28	chr4:100840400-100867000	Weak transcription	Esophagus	oesophagus
29	chr4:100840600-100862200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:100840800-100854600	Weak transcription	Fetal Muscle Leg	muscle
31	chr4:100840800-100854800	Weak transcription	Fetal Lung	lung
32	chr4:100840800-100855600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:100840800-100858200	Weak transcription	Fetal Stomach	stomach
34	chr4:100843400-100856200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr4:100844200-100856400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr4:100844800-100856400	Weak transcription	NH-A	brain
37	chr4:100847600-100856400	Weak transcription	Brain Angular Gyrus	brain
38	chr4:100847800-100856400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:100847800-100864600	Weak transcription	Hela-S3	cervix
40	chr4:100847800-100866200	Weak transcription	HSMMtube	muscle
41	chr4:100848400-100856600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr4:100848400-100866200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr4:100849400-100855200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:100849600-100855000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr4:100849600-100864800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr4:100849800-100856400	Weak transcription	Osteobl	bone
47	chr4:100850200-100855000	Weak transcription	NHEK	skin
48	chr4:100850400-100855000	Weak transcription	Liver	Liver
49	chr4:100850400-100855200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:100850400-100856400	Weak transcription	Primary T cells from cord blood	blood

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