Variant report

Variant	rs11735482
Chromosome Location	chr4:89776246-89776247
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	chr4:89774983..89777193-chr4:89781761..89783267,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10001319	0.81[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10022272	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097200	0.89[ASW][hapmap];0.82[CEU][hapmap];0.96[GIH][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12649368	0.96[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1379934	0.84[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1563688	1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17815876	0.92[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2100679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34321014	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4456928	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62308743	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6847388	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7680357	0.81[EUR][1000 genomes]
rs7690881	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[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	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11735482	HERC6	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89752000-89778800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr4:89754600-89779600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:89764400-89779400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:89765000-89779400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:89765000-89780400	Weak transcription	Ovary	ovary
6	chr4:89765000-89780600	Weak transcription	Left Ventricle	heart
7	chr4:89765200-89778200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:89765200-89780400	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:89765400-89780400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:89765400-89780800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:89766000-89780400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:89767600-89779800	Weak transcription	Fetal Stomach	stomach
13	chr4:89767800-89777600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:89767800-89779600	Weak transcription	Adipose Nuclei	Adipose
15	chr4:89767800-89780400	Weak transcription	Fetal Kidney	kidney
16	chr4:89767800-89780800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr4:89768000-89779600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:89768800-89789400	Weak transcription	Fetal Intestine Small	intestine
19	chr4:89771000-89803200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:89771200-89779600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:89772200-89779800	Weak transcription	Placenta	Placenta
22	chr4:89773600-89784200	Weak transcription	Gastric	stomach
23	chr4:89774800-89776400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:89775400-89780400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:89775800-89776400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:89776000-89776400	Enhancers	NHEK	skin

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