Variant report

Variant	rs73081848
Chromosome Location	chr1:212926191-212926192
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212903656..212906475-chr1:212923448..212926257,3	K562	blood:
2	chr1:212867492..212870204-chr1:212923902..212926371,2	K562	blood:
3	chr1:212924762..212928442-chr1:212932501..212935953,4	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11571524	1.00[AMR][1000 genomes]
rs11571533	1.00[AMR][1000 genomes]
rs11571535	1.00[AMR][1000 genomes]
rs11571558	1.00[AMR][1000 genomes]
rs41296720	0.93[AFR][1000 genomes]
rs41300021	0.93[AFR][1000 genomes]
rs41300031	0.93[AFR][1000 genomes]
rs41307644	0.81[AFR][1000 genomes]
rs56697362	1.00[AFR][1000 genomes]
rs57219112	0.93[AFR][1000 genomes]
rs57638446	0.87[AFR][1000 genomes]
rs58103452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58411510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59645180	1.00[AFR][1000 genomes]
rs60028272	1.00[AMR][1000 genomes]
rs61307999	0.81[AFR][1000 genomes]
rs61531628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075730	1.00[AFR][1000 genomes]
rs73075736	1.00[AFR][1000 genomes]
rs73075738	1.00[AFR][1000 genomes]
rs73075782	0.93[AFR][1000 genomes]
rs73075890	1.00[AMR][1000 genomes]
rs73075893	1.00[AMR][1000 genomes]
rs73075901	1.00[AMR][1000 genomes]
rs73077743	1.00[AMR][1000 genomes]
rs73077745	1.00[AMR][1000 genomes]
rs73077750	1.00[AMR][1000 genomes]
rs73077752	1.00[AMR][1000 genomes]
rs73077765	1.00[AMR][1000 genomes]
rs73077787	1.00[AMR][1000 genomes]
rs73077796	1.00[AMR][1000 genomes]
rs73077801	1.00[AMR][1000 genomes]
rs73077863	0.93[AFR][1000 genomes]
rs73077871	0.93[AFR][1000 genomes]
rs73079812	1.00[AMR][1000 genomes]
rs73079819	1.00[AMR][1000 genomes]
rs73079839	1.00[AMR][1000 genomes]
rs73079842	1.00[AMR][1000 genomes]
rs73079854	1.00[AMR][1000 genomes]
rs73079874	1.00[AMR][1000 genomes]
rs73079880	0.88[AFR][1000 genomes]
rs73079886	0.88[AFR][1000 genomes]
rs73079887	0.88[AFR][1000 genomes]
rs73079900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73079978	0.93[AFR][1000 genomes]
rs73079997	0.93[AFR][1000 genomes]
rs73080000	0.93[AFR][1000 genomes]
rs73081820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73081821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73081838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73081859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73081865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73081874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73081896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73083716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73083720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73083723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73083787	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv549148	chr1:212876902-212962207	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv1005983	chr1:212917531-212947521	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv2756884	chr1:212925429-213006397	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	esv2758997	chr1:212925429-213006397	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212895400-212926400	Weak transcription	Esophagus	oesophagus
2	chr1:212895400-212964600	Weak transcription	Pancreas	Pancrea
3	chr1:212895600-212964600	Weak transcription	Gastric	stomach
4	chr1:212895800-212926200	Weak transcription	Hela-S3	cervix
5	chr1:212898800-212934000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:212899800-212926400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:212900400-212927600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:212900400-212932600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:212900400-212936200	Weak transcription	Aorta	Aorta
10	chr1:212901400-212954000	Weak transcription	NH-A	brain
11	chr1:212902200-212941800	Weak transcription	Fetal Kidney	kidney
12	chr1:212902600-212943600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:212903600-212926400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:212904800-212926200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:212908000-212933200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:212912000-212935800	Weak transcription	K562	blood
17	chr1:212915400-212932600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:212915400-212933400	Weak transcription	Ovary	ovary
19	chr1:212915400-212934400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:212915400-212936000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:212915400-212942000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:212917400-212926400	Weak transcription	Thymus	Thymus
23	chr1:212917600-212931200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:212918400-212929400	Weak transcription	Fetal Stomach	stomach
25	chr1:212918800-212930400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:212919600-212926400	Weak transcription	Right Atrium	heart
27	chr1:212920000-212929200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:212920600-212929400	Weak transcription	Fetal Intestine Small	intestine
29	chr1:212921000-212929400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:212922200-212939600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:212923000-212926200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr1:212923400-212928600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr1:212923600-212926200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:212923600-212926200	Weak transcription	Brain Anterior Caudate	brain
35	chr1:212923600-212926200	Weak transcription	Colon Smooth Muscle	Colon
36	chr1:212923600-212927600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:212923600-212927800	Weak transcription	Left Ventricle	heart
38	chr1:212923600-212932800	Weak transcription	Fetal Intestine Large	intestine
39	chr1:212923600-212935400	Weak transcription	Lung	lung
40	chr1:212923600-212956200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:212923600-212963800	Weak transcription	Brain Angular Gyrus	brain
42	chr1:212923600-212964400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:212923800-212926200	Weak transcription	Adipose Nuclei	Adipose
44	chr1:212923800-212926200	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:212923800-212926400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:212923800-212926400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:212923800-212926400	Weak transcription	Fetal Thymus	thymus
48	chr1:212923800-212926400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:212923800-212926400	Weak transcription	HSMM	muscle
50	chr1:212923800-212926600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links