Variant report

Variant	rs981321
Chromosome Location	chr7:122525329-122525330
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1023535	0.82[CHB][hapmap]
rs10487750	0.82[CHB][hapmap]
rs12534868	0.82[CHB][hapmap]
rs12538235	0.82[CHB][hapmap]
rs12540674	0.86[CHB][hapmap]
rs12706438	0.82[CHB][hapmap]
rs12706439	0.90[CHB][hapmap]
rs12706440	0.82[CHB][hapmap]
rs12706442	0.82[CHB][hapmap]
rs12706443	0.90[CHB][hapmap]
rs12706444	0.82[CHB][hapmap]
rs12706445	0.82[CHB][hapmap]
rs12706451	0.82[CHB][hapmap]
rs12706453	0.82[CHB][hapmap]
rs12706454	0.82[CHB][hapmap]
rs13224552	0.82[CHB][hapmap]
rs13226818	0.82[CHB][hapmap]
rs13227070	0.82[CHB][hapmap]
rs13227529	0.90[CHB][hapmap]
rs13232111	0.82[CHB][hapmap]
rs13233385	0.82[CHB][hapmap]
rs13235728	0.90[CHB][hapmap]
rs13239280	0.82[CHB][hapmap]
rs13240237	0.82[CHB][hapmap]
rs13245411	0.82[CHB][hapmap]
rs17144817	0.82[CHB][hapmap]
rs17144859	0.90[CHB][hapmap]
rs17144881	0.82[CHB][hapmap]
rs17144922	0.81[CHB][hapmap]
rs17144937	0.82[CHB][hapmap]
rs17144940	0.82[CHB][hapmap]
rs17144942	0.82[CHB][hapmap]
rs17144945	0.82[CHB][hapmap]
rs17144947	0.82[CHB][hapmap]
rs17144949	0.82[CHB][hapmap]
rs17144969	0.82[CHB][hapmap]
rs17145052	0.82[CHB][hapmap]
rs17145065	0.82[CHB][hapmap]
rs2097912	0.82[CHB][hapmap]
rs2190252	0.82[CHB][hapmap]
rs2190253	0.82[CHB][hapmap]
rs2190256	0.82[CHB][hapmap]
rs2190259	0.82[CHB][hapmap]
rs2214844	0.82[CHB][hapmap]
rs41476049	0.82[CEU][hapmap];0.83[TSI][hapmap]
rs4292628	0.82[CHB][hapmap]
rs4464881	0.82[CHB][hapmap]
rs4475406	0.82[CHB][hapmap]
rs4607548	0.82[CHB][hapmap]
rs6944532	0.82[CHB][hapmap]
rs6947532	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963799	0.82[CHB][hapmap]
rs6966101	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966490	0.92[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7782606	0.82[CHB][hapmap]
rs7787372	0.82[CHB][hapmap]
rs982272	0.81[CHB][hapmap]
rs990625	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532178	chr7:122203056-122978846	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv532179	chr7:122249639-122986259	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv532181	chr7:122291571-122684719	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv532218	chr7:122360779-122934247	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer 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
5	nsv1033520	chr7:122366544-122992937	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv949059	chr7:122386967-123066042	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv948531	chr7:122386967-123191974	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv949180	chr7:122386967-123237070	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv524192	chr7:122403421-123218522	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv498124	chr7:122412493-122986259	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs981321	NDUFA5	cis	parietal	SCAN
rs981321	ASB15	cis	parietal	SCAN
rs981321	HYAL4	cis	cerebellum	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122496200-122525600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:122520600-122525400	Weak transcription	Small Intestine	intestine
3	chr7:122521800-122525400	Weak transcription	Gastric	stomach
4	chr7:122522800-122527400	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr7:122523000-122527400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:122523200-122527600	Active TSS	Fetal Kidney	kidney
7	chr7:122523600-122525400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:122523800-122525400	Weak transcription	Hela-S3	cervix
9	chr7:122524000-122526000	Active TSS	Right Atrium	heart
10	chr7:122524000-122527400	Active TSS	Placenta Amnion	Placenta Amnion
11	chr7:122524400-122525800	Flanking Active TSS	HUVEC	blood vessel
12	chr7:122524400-122527600	Active TSS	Brain Angular Gyrus	brain
13	chr7:122524400-122527600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr7:122524400-122527600	Active TSS	Ovary	ovary
15	chr7:122524800-122525400	Flanking Active TSS	Fetal Lung	lung
16	chr7:122524800-122525600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr7:122524800-122527600	Active TSS	Stomach Smooth Muscle	stomach
18	chr7:122525000-122525400	Active TSS	H1 Cell Line	embryonic stem cell
19	chr7:122525000-122525400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr7:122525000-122525600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
21	chr7:122525000-122525600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
22	chr7:122525000-122525600	Flanking Active TSS	Fetal Heart	heart
23	chr7:122525000-122525600	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr7:122525000-122525600	Active TSS	Fetal Stomach	stomach
25	chr7:122525000-122527200	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr7:122525000-122527600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr7:122525000-122527600	Active TSS	Brain Anterior Caudate	brain
28	chr7:122525000-122527600	Active TSS	Brain Cingulate Gyrus	brain
29	chr7:122525000-122527600	Active TSS	Duodenum Mucosa	Duodenum
30	chr7:122525200-122525400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:122525200-122525400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:122525200-122525400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:122525200-122525400	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr7:122525200-122525400	Flanking Active TSS	Fetal Intestine Large	intestine
35	chr7:122525200-122525400	Flanking Active TSS	Stomach Mucosa	stomach
36	chr7:122525200-122525400	Active TSS	HepG2	liver
37	chr7:122525200-122525400	Enhancers	HMEC	breast
38	chr7:122525200-122525400	Enhancers	NH-A	brain
39	chr7:122525200-122525400	Enhancers	NHDF-Ad	bronchial
40	chr7:122525200-122525400	Flanking Active TSS	NHLF	lung
41	chr7:122525200-122525600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:122525200-122525600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
43	chr7:122525200-122525600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
44	chr7:122525200-122525600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:122525200-122525600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr7:122525200-122525600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr7:122525200-122525600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr7:122525200-122525800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:122525200-122525800	Flanking Active TSS	Liver	Liver
50	chr7:122525200-122525800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle

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