Variant report

Variant	rs7943599
Chromosome Location	chr11:76313069-76313070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76312055..76314144-chr11:76316042..76318637,2	K562	blood:
2	chr11:76309441..76311518-chr11:76311642..76314549,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10793176	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10899237	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899238	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11236798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11236800	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236806	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11236808	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11604124	0.82[ASN][1000 genomes]
rs11605443	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11827686	0.82[EUR][1000 genomes]
rs12222706	0.81[ASN][1000 genomes]
rs12575191	0.86[ASN][1000 genomes]
rs4438063	0.91[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs4485135	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4553390	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59753271	0.86[ASN][1000 genomes]
rs60413358	0.86[ASN][1000 genomes]
rs61380430	0.89[ASN][1000 genomes]
rs61566046	0.89[ASN][1000 genomes]
rs7942382	0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs7945414	0.86[ASN][1000 genomes]
rs7950468	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951284	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645696	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];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	nsv1043912	chr11:76301316-76439095	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1039451	chr11:76301316-76440221	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1810781	chr11:76311021-76464814	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7943599	DNAJB13	cis	cerebellum	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76303200-76313600	Weak transcription	Gastric	stomach
2	chr11:76303200-76315600	Weak transcription	Brain Angular Gyrus	brain
3	chr11:76303600-76315800	Weak transcription	Esophagus	oesophagus
4	chr11:76304200-76313200	Weak transcription	Stomach Mucosa	stomach
5	chr11:76304400-76313400	Weak transcription	Colonic Mucosa	Colon
6	chr11:76304400-76315600	Weak transcription	Pancreas	Pancrea
7	chr11:76309600-76313200	Weak transcription	Left Ventricle	heart
8	chr11:76309800-76313400	Weak transcription	Fetal Thymus	thymus
9	chr11:76309800-76313400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:76310400-76313400	Weak transcription	Fetal Lung	lung
11	chr11:76310400-76313400	Weak transcription	Right Ventricle	heart
12	chr11:76310400-76315600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:76310600-76313200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:76310600-76313200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:76310600-76313400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:76310600-76313400	Weak transcription	Spleen	Spleen
17	chr11:76310600-76313600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:76310600-76320200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:76310800-76313400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:76310800-76313400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:76310800-76313800	Weak transcription	Osteobl	bone
22	chr11:76311000-76313400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr11:76311000-76313600	Weak transcription	Small Intestine	intestine
24	chr11:76311200-76314000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:76311200-76320800	Weak transcription	NH-A	brain
26	chr11:76311400-76313400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:76311400-76313400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:76311400-76313600	Weak transcription	Lung	lung
29	chr11:76312400-76314200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr11:76312400-76317800	Enhancers	Ovary	ovary
31	chr11:76312400-76318000	Enhancers	Placenta	Placenta
32	chr11:76312600-76317400	Enhancers	Colon Smooth Muscle	Colon
33	chr11:76312600-76317800	Enhancers	Fetal Stomach	stomach
34	chr11:76312800-76313200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr11:76312800-76313200	Weak transcription	NHLF	lung
36	chr11:76312800-76314200	Enhancers	Primary hematopoietic stem cells	blood
37	chr11:76312800-76314400	Enhancers	Stomach Smooth Muscle	stomach
38	chr11:76312800-76315000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:76312800-76316000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr11:76312800-76317000	Enhancers	Fetal Heart	heart
41	chr11:76312800-76317600	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr11:76312800-76317800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr11:76312800-76317800	Enhancers	Right Atrium	heart
44	chr11:76312800-76318400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:76313000-76313400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:76313000-76314400	Enhancers	HUVEC	blood vessel
47	chr11:76313000-76315200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:76313000-76315800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:76313000-76318000	Enhancers	NHDF-Ad	bronchial

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