Variant report

Variant	rs7330111
Chromosome Location	chr13:110986721-110986722
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11617664	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11619651	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11619656	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12428960	1.00[CHB][hapmap]
rs2131939	1.00[CHB][hapmap]
rs7330054	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7981946	1.00[CHB][hapmap]
rs7993125	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9588109	1.00[CHB][hapmap]

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	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1049454	chr13:110950768-111006547	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110962600-110989200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr13:110972600-111007200	Weak transcription	Gastric	stomach
3	chr13:110972800-110995000	Weak transcription	Esophagus	oesophagus
4	chr13:110974000-110993000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:110979800-110989200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:110979800-110989200	Weak transcription	Brain Hippocampus Middle	brain
7	chr13:110980000-110989400	Weak transcription	Fetal Intestine Small	intestine
8	chr13:110980200-110988600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:110980200-110989800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr13:110980200-110993000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr13:110980200-110995400	Weak transcription	A549	lung
12	chr13:110980200-111002800	Weak transcription	Fetal Brain Male	brain
13	chr13:110980800-110988000	Strong transcription	HUVEC	blood vessel
14	chr13:110981000-110989600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:110981600-110990200	Genic enhancers	Fetal Muscle Leg	muscle
16	chr13:110982000-110992600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr13:110982200-110989600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr13:110982400-110991000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr13:110983000-110987600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:110983200-110987000	Enhancers	HSMMtube	muscle
21	chr13:110983200-110988600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr13:110983200-110988800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr13:110983200-110992800	Enhancers	Colon Smooth Muscle	Colon
24	chr13:110983400-110987400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:110983400-110990200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr13:110983400-110991000	Weak transcription	Brain Germinal Matrix	brain
27	chr13:110984000-110987000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr13:110984000-110989200	Weak transcription	Colonic Mucosa	Colon
29	chr13:110984000-110989200	Weak transcription	Psoas Muscle	Psoas
30	chr13:110984000-110989200	Weak transcription	Small Intestine	intestine
31	chr13:110984000-110989600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr13:110984200-110988200	Weak transcription	Fetal Lung	lung
33	chr13:110984200-110988800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:110984200-110988800	Weak transcription	Aorta	Aorta
35	chr13:110984200-110989200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr13:110984200-110989600	Weak transcription	Fetal Kidney	kidney
37	chr13:110984200-110992400	Genic enhancers	NH-A	brain
38	chr13:110984400-110990200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr13:110984600-110987200	Enhancers	Fetal Heart	heart
40	chr13:110984800-110987400	Genic enhancers	HSMM	muscle
41	chr13:110985000-110987600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr13:110985000-110987600	Genic enhancers	Right Ventricle	heart
43	chr13:110985000-110987600	Genic enhancers	NHEK	skin
44	chr13:110985200-110986800	Enhancers	Lung	lung
45	chr13:110985200-110987400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr13:110985200-110987600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr13:110985200-110987600	Enhancers	Placenta	Placenta
48	chr13:110985200-110988600	Weak transcription	NHDF-Ad	bronchial
49	chr13:110985200-110990200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr13:110985200-110990200	Genic enhancers	Fetal Stomach	stomach

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