Variant report

Variant	rs72998553
Chromosome Location	chr1:76722603-76722604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2035611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4353143	1.00[AMR][1000 genomes]
rs72998539	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72998547	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72998571	1.00[AMR][1000 genomes]
rs72998579	1.00[AMR][1000 genomes]
rs72998584	1.00[AMR][1000 genomes]
rs72998597	1.00[AMR][1000 genomes]
rs73000416	1.00[AMR][1000 genomes]
rs73000483	1.00[AMR][1000 genomes]
rs73002405	1.00[AMR][1000 genomes]
rs73002412	1.00[AMR][1000 genomes]
rs73002414	1.00[AMR][1000 genomes]
rs73004241	1.00[AMR][1000 genomes]
rs73006152	1.00[AMR][1000 genomes]
rs73006167	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1008763	chr1:76692057-76723417	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1001452	chr1:76692057-76724652	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1499	chr1:76704981-76749688	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv534168	chr1:76718950-77039352	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76716400-76723200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:76716600-76723600	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:76719600-76727200	Weak transcription	Aorta	Aorta
4	chr1:76719600-76727600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr1:76719800-76722800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:76719800-76724000	Weak transcription	Adipose Nuclei	Adipose
7	chr1:76720000-76723000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr1:76720000-76724400	Enhancers	Fetal Thymus	thymus
9	chr1:76720000-76726200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:76720000-76727600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr1:76720200-76723400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:76720200-76727800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr1:76720200-76728000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:76720400-76722800	Enhancers	HUVEC	blood vessel
15	chr1:76720600-76723000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:76720600-76725800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:76720800-76723200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:76720800-76725800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr1:76721000-76723000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:76721000-76726000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr1:76721600-76725800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:76721800-76723000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:76721800-76723400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr1:76722000-76722800	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr1:76722000-76722800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:76722000-76722800	Enhancers	Fetal Lung	lung
27	chr1:76722000-76723200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:76722000-76723600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr1:76722000-76723600	Enhancers	Thymus	Thymus
30	chr1:76722000-76723800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr1:76722000-76723800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr1:76722000-76732800	Weak transcription	Fetal Kidney	kidney
33	chr1:76722200-76723000	Weak transcription	Small Intestine	intestine
34	chr1:76722200-76723800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr1:76722200-76723800	Enhancers	Fetal Heart	heart
36	chr1:76722400-76723400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:76722400-76725800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr1:76722600-76723000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:76722600-76723200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:76722600-76723800	Enhancers	Primary T cells fromperipheralblood	blood
41	chr1:76722600-76725600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:76722600-76726000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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