Variant report

Variant	rs72736243
Chromosome Location	chr1:101544697-101544698
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:101543484..101546642-chr1:101548253..101552562,3	K562	blood:
2	chr1:101536308..101538306-chr1:101542551..101545144,2	K562	blood:
3	chr1:101536308..101538834-chr1:101542551..101545172,3	K562	blood:

Variant related genes	Relation type
ENSG00000233184	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs61780316	1.00[AMR][1000 genomes]
rs61780322	1.00[AMR][1000 genomes]
rs61782086	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61782103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61782145	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001142	chr1:101399403-101783520	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535034	chr1:101399403-101783520	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv998086	chr1:101479700-101644198	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1008980	chr1:101501453-101620199	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:101501400-101546400	Weak transcription	Pancreas	Pancrea
2	chr1:101517800-101554000	Weak transcription	HSMMtube	muscle
3	chr1:101525800-101553000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:101526600-101552000	Weak transcription	Ovary	ovary
5	chr1:101528000-101548800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:101530600-101552000	Weak transcription	Fetal Heart	heart
7	chr1:101532000-101552400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:101532400-101546800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:101532800-101546400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:101533400-101546200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:101536200-101548000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:101536200-101554200	Weak transcription	Adipose Nuclei	Adipose
13	chr1:101536400-101545200	Weak transcription	Thymus	Thymus
14	chr1:101537200-101545200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:101537200-101552600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:101537400-101544800	Weak transcription	Brain Substantia Nigra	brain
17	chr1:101537400-101544800	Weak transcription	HUVEC	blood vessel
18	chr1:101537400-101545000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:101537400-101548200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:101537400-101548400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:101537400-101549800	Weak transcription	Psoas Muscle	Psoas
22	chr1:101537400-101552600	Weak transcription	Aorta	Aorta
23	chr1:101537400-101554200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:101537600-101545800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:101537600-101546400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:101537600-101554000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:101537800-101546400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:101538000-101548000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:101538400-101546400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:101539600-101552400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:101539600-101553600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:101539800-101548000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:101540600-101554800	Weak transcription	Osteobl	bone
34	chr1:101541400-101548400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:101541400-101554000	Weak transcription	HSMM	muscle
36	chr1:101541400-101555000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:101541600-101545400	Weak transcription	HMEC	breast
38	chr1:101541600-101553200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:101541600-101555400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:101541800-101544800	Weak transcription	GM12878-XiMat	blood
41	chr1:101541800-101545000	Weak transcription	Fetal Intestine Large	intestine
42	chr1:101541800-101545200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:101541800-101546600	Weak transcription	NHEK	skin
44	chr1:101541800-101553600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:101542000-101556800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:101542200-101551800	Weak transcription	Fetal Brain Male	brain
47	chr1:101542400-101546400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:101542400-101548200	Weak transcription	Left Ventricle	heart
49	chr1:101542800-101545400	Strong transcription	Dnd41	blood
50	chr1:101543400-101545200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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