Variant report

Variant	rs73034701
Chromosome Location	chr1:169294395-169294396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr1:169294321-169294698	K562	blood:	n/a	chr1:169294486-169294499
2	USF1	chr1:169294357-169294667	H1-hESC	embryonic stem cell:	n/a	n/a
3	RCOR1	chr1:169294395-169294704	K562	blood:	n/a	n/a
4	USF1	chr1:169294370-169294638	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169281102..169283906-chr1:169293701..169295205,2	K562	blood:

Variant related genes	Relation type
NME7	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs16861993	0.81[AFR][1000 genomes]
rs16862000	0.81[AFR][1000 genomes]
rs16862089	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16862091	1.00[AMR][1000 genomes]
rs16862101	1.00[AMR][1000 genomes]
rs57339033	1.00[AMR][1000 genomes]
rs57461302	0.81[AFR][1000 genomes]
rs57479005	0.81[AFR][1000 genomes]
rs57556667	1.00[AMR][1000 genomes]
rs58003088	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58149696	1.00[AMR][1000 genomes]
rs58775541	1.00[AMR][1000 genomes]
rs58860567	1.00[AMR][1000 genomes]
rs59937757	0.81[AFR][1000 genomes]
rs6656776	1.00[AMR][1000 genomes]
rs6664612	1.00[AMR][1000 genomes]
rs6687062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034683	1.00[AFR][1000 genomes]
rs73034687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035344	0.81[AFR][1000 genomes]
rs73035348	0.81[AFR][1000 genomes]
rs73035355	0.81[AFR][1000 genomes]
rs73035376	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035381	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036820	1.00[AMR][1000 genomes]
rs73036830	1.00[AMR][1000 genomes]
rs73036833	1.00[AMR][1000 genomes]
rs73036856	1.00[AMR][1000 genomes]
rs73036860	1.00[AMR][1000 genomes]
rs73041751	1.00[AMR][1000 genomes]
rs73041774	1.00[AMR][1000 genomes]
rs73051105	1.00[AMR][1000 genomes]
rs73051107	1.00[AMR][1000 genomes]
rs7417281	1.00[AMR][1000 genomes]
rs7532255	0.80[AFR][1000 genomes]
rs7532362	0.80[AFR][1000 genomes]
rs7534851	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv429913	chr1:169177019-169296744	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1010010	chr1:169189586-169347545	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv872531	chr1:169191860-169388193	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1012919	chr1:169200982-169324750	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv872532	chr1:169275630-169363203	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169259600-169294400	Weak transcription	Pancreas	Pancrea
2	chr1:169260400-169310400	Weak transcription	Fetal Stomach	stomach
3	chr1:169264400-169294400	Weak transcription	Left Ventricle	heart
4	chr1:169265000-169320400	Weak transcription	Aorta	Aorta
5	chr1:169270200-169336400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:169271800-169297200	Weak transcription	Psoas Muscle	Psoas
7	chr1:169273600-169312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:169276800-169304600	Weak transcription	Ovary	ovary
9	chr1:169277000-169294600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:169277000-169306200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:169279000-169295600	Weak transcription	Adipose Nuclei	Adipose
12	chr1:169279200-169296000	Weak transcription	Primary T cells from cord blood	blood
13	chr1:169280200-169304600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:169281600-169294400	Weak transcription	Fetal Intestine Small	intestine
15	chr1:169281600-169294400	Weak transcription	Lung	lung
16	chr1:169281600-169306600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:169281800-169295400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:169282000-169294600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:169282000-169306800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:169282200-169295800	Weak transcription	NHEK	skin
21	chr1:169282400-169295600	Weak transcription	NH-A	brain
22	chr1:169286200-169295400	Weak transcription	HUVEC	blood vessel
23	chr1:169287400-169294400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:169288600-169297200	Weak transcription	Small Intestine	intestine
25	chr1:169291000-169295600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:169291000-169295600	Weak transcription	HMEC	breast
27	chr1:169291000-169295800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:169291000-169296200	Weak transcription	NHDF-Ad	bronchial
29	chr1:169291000-169313200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:169291200-169296000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:169291400-169296000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:169291400-169296000	Weak transcription	Osteobl	bone
33	chr1:169291600-169295600	Weak transcription	Hela-S3	cervix
34	chr1:169292400-169294800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr1:169293400-169295400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:169293600-169294800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr1:169293600-169295600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr1:169293600-169295600	Enhancers	A549	lung
39	chr1:169293800-169294600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:169293800-169294800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:169294000-169294600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr1:169294000-169295400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:169294000-169305200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:169294200-169294600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr1:169294200-169295000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr1:169294200-169295600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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