Variant report

Variant	rs73683943
Chromosome Location	chr7:28077071-28077072
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:28066207..28069550-chr7:28075402..28078570,3	K562	blood:
2	chr7:28076279..28077866-chr7:28090411..28093072,2	K562	blood:
3	chr7:28068756..28071584-chr7:28075935..28078228,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs57516014	1.00[AMR][1000 genomes]
rs58890703	1.00[AMR][1000 genomes]
rs60825597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60912742	1.00[AMR][1000 genomes]
rs61474284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6975894	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302940	1.00[AMR][1000 genomes]
rs73683932	1.00[AMR][1000 genomes]
rs73683933	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683935	1.00[AMR][1000 genomes]
rs73683936	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683937	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683938	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683940	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683941	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683949	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683952	1.00[AMR][1000 genomes]
rs73683973	1.00[AMR][1000 genomes]
rs73684087	1.00[AMR][1000 genomes]
rs73685831	1.00[AMR][1000 genomes]
rs7794172	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:28067600-28078600	Weak transcription	Fetal Stomach	stomach
2	chr7:28071000-28078600	Enhancers	Rectal Smooth Muscle	rectum
3	chr7:28071600-28080000	Weak transcription	Primary B cells from cord blood	blood
4	chr7:28072000-28079200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:28073200-28082600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr7:28073800-28077600	Enhancers	Liver	Liver
7	chr7:28074400-28077200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:28074400-28085800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:28074600-28078600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:28074600-28078800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:28074600-28084200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:28075200-28078400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr7:28075400-28078200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:28075400-28079400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:28075600-28082400	Enhancers	HSMMtube	muscle
16	chr7:28075800-28078000	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr7:28076000-28077800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr7:28076000-28078400	Enhancers	HUVEC	blood vessel
19	chr7:28076000-28078800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr7:28076000-28081000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr7:28076200-28077400	Enhancers	Fetal Intestine Small	intestine
22	chr7:28076200-28077600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:28076200-28077600	Enhancers	GM12878-XiMat	blood
24	chr7:28076200-28077800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:28076200-28078000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr7:28076200-28082200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:28076400-28077600	Enhancers	Fetal Intestine Large	intestine
28	chr7:28076400-28077800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:28076600-28077200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr7:28076600-28077400	Enhancers	Fetal Heart	heart
31	chr7:28076600-28077800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr7:28076600-28080200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:28076600-28080800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:28076600-28080800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:28076600-28082200	Weak transcription	Lung	lung
36	chr7:28076800-28077200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:28076800-28077200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:28076800-28077200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr7:28076800-28077200	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr7:28076800-28077200	Active TSS	A549	lung
41	chr7:28076800-28077400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr7:28076800-28077400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:28076800-28077400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:28076800-28077400	Enhancers	NHLF	lung
45	chr7:28076800-28077600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:28076800-28077600	Enhancers	K562	blood
47	chr7:28076800-28077600	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr7:28076800-28079200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:28076800-28079800	Enhancers	Colon Smooth Muscle	Colon
50	chr7:28076800-28080800	Weak transcription	Placenta	Placenta

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