Variant report

Variant	rs73081896
Chromosome Location	chr1:212947391-212947392
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212946670..212949968-chr1:212963213..212965983,4	K562	blood:

Variant related genes	Relation type
ENSG00000117697	Chromatin interaction
ENSG00000203705	Chromatin interaction

Extended variants
information (count: 66 )
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]
rs73081848	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]
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:8 , 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
8	nsv1010003	chr1:212944240-212986996	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212895400-212964600	Weak transcription	Pancreas	Pancrea
2	chr1:212895600-212964600	Weak transcription	Gastric	stomach
3	chr1:212901400-212954000	Weak transcription	NH-A	brain
4	chr1:212923600-212956200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:212923600-212963800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:212923600-212964400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:212923800-212957600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:212923800-212964200	Weak transcription	HMEC	breast
9	chr1:212924000-212954200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:212926600-212954200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:212926600-212963400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:212926800-212947800	Weak transcription	NHDF-Ad	bronchial
13	chr1:212926800-212948000	Weak transcription	Osteobl	bone
14	chr1:212926800-212954200	Weak transcription	Hela-S3	cervix
15	chr1:212927400-212963400	Weak transcription	Small Intestine	intestine
16	chr1:212927400-212964200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:212928400-212954000	Weak transcription	Fetal Brain Male	brain
18	chr1:212928400-212956200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:212928600-212947800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:212928600-212954200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:212929000-212947800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:212934200-212952400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:212936600-212950600	Weak transcription	Placenta	Placenta
24	chr1:212936600-212954800	Weak transcription	Left Ventricle	heart
25	chr1:212936600-212956000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:212936600-212956200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:212936600-212956200	Weak transcription	Thymus	Thymus
28	chr1:212936600-212959800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:212936600-212960200	Weak transcription	Lung	lung
30	chr1:212936600-212964400	Weak transcription	Esophagus	oesophagus
31	chr1:212939400-212956200	Weak transcription	Fetal Stomach	stomach
32	chr1:212941200-212964200	Weak transcription	Right Ventricle	heart
33	chr1:212942400-212950400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:212942400-212964200	Weak transcription	Aorta	Aorta
35	chr1:212942600-212964400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:212942800-212956400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:212942800-212964200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:212943000-212954200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr1:212943200-212953800	Weak transcription	HSMM	muscle
40	chr1:212943200-212954200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr1:212943200-212954200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:212943200-212956200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:212943200-212956200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr1:212943200-212964200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:212943600-212954000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:212943600-212957800	Weak transcription	Brain Anterior Caudate	brain
47	chr1:212943800-212947800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:212943800-212949000	Strong transcription	Dnd41	blood
49	chr1:212943800-212953800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr1:212943800-212954800	Weak transcription	Colon Smooth Muscle	Colon

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