Variant report

Variant	rs4756921
Chromosome Location	chr11:17835483-17835484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17833715..17836483-chr11:17839806..17843021,3	MCF-7	breast:
2	chr11:17802032..17804366-chr11:17833882..17835723,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2079228	0.85[EUR][1000 genomes]
rs4756919	0.94[CEU][hapmap]
rs4757592	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7932302	0.94[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832078	chr11:17780503-17953521	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1043973	chr11:17781560-17869896	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv897026	chr11:17823296-18084878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4756921	USH1C	cis	cerebellum	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17806000-17837800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr11:17806800-17867400	Weak transcription	Primary B cells from cord blood	blood
3	chr11:17808200-17861400	Weak transcription	Thymus	Thymus
4	chr11:17815600-17841400	Weak transcription	HepG2	liver
5	chr11:17818600-17843200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:17825400-17843400	Weak transcription	Lung	lung
7	chr11:17831000-17836200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr11:17831200-17837000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:17831200-17849400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr11:17831600-17835600	Enhancers	Fetal Muscle Leg	muscle
11	chr11:17831600-17836400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr11:17831800-17835600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:17831800-17835600	Enhancers	Left Ventricle	heart
14	chr11:17832000-17849600	Weak transcription	Primary T cells from cord blood	blood
15	chr11:17832200-17835600	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr11:17832200-17835800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:17832200-17835800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:17832400-17835600	Enhancers	Brain Anterior Caudate	brain
19	chr11:17832400-17835600	Enhancers	Fetal Brain Male	brain
20	chr11:17832400-17836400	Enhancers	Rectal Smooth Muscle	rectum
21	chr11:17832400-17838600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:17833000-17835600	Enhancers	Stomach Smooth Muscle	stomach
23	chr11:17833000-17836600	Enhancers	Psoas Muscle	Psoas
24	chr11:17833000-17843800	Weak transcription	HSMMtube	muscle
25	chr11:17833200-17835600	Enhancers	Fetal Lung	lung
26	chr11:17833200-17838000	Weak transcription	Right Atrium	heart
27	chr11:17833400-17835600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr11:17833600-17835800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:17833600-17836200	Enhancers	Fetal Stomach	stomach
30	chr11:17833800-17835600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:17833800-17835800	Enhancers	Colon Smooth Muscle	Colon
32	chr11:17833800-17843000	Weak transcription	Fetal Heart	heart
33	chr11:17833800-17867400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:17834200-17835600	Enhancers	Fetal Brain Female	brain
35	chr11:17834200-17838000	Weak transcription	Esophagus	oesophagus
36	chr11:17834400-17835600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:17834400-17835600	Enhancers	Small Intestine	intestine
38	chr11:17834400-17835600	Enhancers	NH-A	brain
39	chr11:17834400-17836400	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:17834600-17835600	Enhancers	HMEC	breast
41	chr11:17834600-17835800	Enhancers	NHEK	skin
42	chr11:17834600-17836800	Enhancers	Osteobl	bone
43	chr11:17834600-17838000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr11:17834600-17838000	Weak transcription	Pancreas	Pancrea
45	chr11:17834600-17838000	Weak transcription	Right Ventricle	heart
46	chr11:17834600-17838000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:17834800-17836000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:17834800-17836600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:17834800-17838800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr11:17834800-17843400	Weak transcription	Stomach Mucosa	stomach

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