Variant report

Variant	rs7983450
Chromosome Location	chr13:110980063-110980064
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1106649	1.00[YRI][hapmap]
rs592103	1.00[YRI][hapmap]
rs9521803	1.00[YRI][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:85 , 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	chr13:110969800-110980200	Enhancers	Rectal Smooth Muscle	rectum
3	chr13:110969800-110983200	Enhancers	Fetal Heart	heart
4	chr13:110972600-111007200	Weak transcription	Gastric	stomach
5	chr13:110972800-110995000	Weak transcription	Esophagus	oesophagus
6	chr13:110973800-110982000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:110974000-110993000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:110975000-110981600	Enhancers	Colon Smooth Muscle	Colon
9	chr13:110975400-110981400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:110976200-110982600	Weak transcription	HMEC	breast
11	chr13:110976600-110982400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:110976800-110980800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:110976800-110982600	Weak transcription	Brain Anterior Caudate	brain
14	chr13:110977000-110982600	Weak transcription	Brain Germinal Matrix	brain
15	chr13:110977800-110981400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr13:110977800-110984200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:110978000-110980200	Enhancers	Fetal Muscle Leg	muscle
18	chr13:110978400-110980200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr13:110978400-110980200	Enhancers	HSMMtube	muscle
20	chr13:110978400-110980600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr13:110978400-110981000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr13:110978400-110981600	Enhancers	HSMM	muscle
23	chr13:110978400-110985200	Enhancers	NHDF-Ad	bronchial
24	chr13:110978600-110980200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr13:110978600-110980200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:110978600-110980200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:110978600-110980200	Enhancers	Fetal Lung	lung
28	chr13:110978600-110980200	Enhancers	A549	lung
29	chr13:110978600-110981200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr13:110978600-110981600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:110978600-110982200	Genic enhancers	Osteobl	bone
32	chr13:110978800-110980200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr13:110978800-110980200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr13:110978800-110980200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:110979000-110980200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr13:110979000-110983800	Weak transcription	Brain Substantia Nigra	brain
37	chr13:110979200-110980800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr13:110979200-110980800	Weak transcription	HUVEC	blood vessel
39	chr13:110979200-110981600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr13:110979200-110981600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr13:110979200-110981800	Weak transcription	Spleen	Spleen
42	chr13:110979200-110983800	Weak transcription	Psoas Muscle	Psoas
43	chr13:110979200-110986200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr13:110979400-110980200	Enhancers	Fetal Brain Male	brain
45	chr13:110979400-110980200	Enhancers	Stomach Smooth Muscle	stomach
46	chr13:110979400-110983200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr13:110979400-110983800	Weak transcription	Colonic Mucosa	Colon
48	chr13:110979400-110985000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr13:110979600-110980200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr13:110979600-110980200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links