Variant report

Variant	rs6545436
Chromosome Location	chr2:54899119-54899120
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	chr2:54898899..54901777-chr2:54904985..54907433,2	K562	blood:
2	chr2:54891251..54894116-chr2:54898637..54900968,3	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10166179	1.00[EUR][1000 genomes]
rs10188600	1.00[EUR][1000 genomes]
rs1030601	1.00[EUR][1000 genomes]
rs11885098	1.00[EUR][1000 genomes]
rs11895933	1.00[EUR][1000 genomes]
rs13386997	1.00[EUR][1000 genomes]
rs13394958	1.00[EUR][1000 genomes]
rs13409783	1.00[EUR][1000 genomes]
rs13419870	1.00[EUR][1000 genomes]
rs3936082	1.00[EUR][1000 genomes]
rs56726104	1.00[EUR][1000 genomes]
rs61332964	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61743072	1.00[EUR][1000 genomes]
rs6545439	1.00[EUR][1000 genomes]
rs6753590	1.00[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6753689	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6756814	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6757017	1.00[EUR][1000 genomes]
rs72918768	1.00[EUR][1000 genomes]
rs73932784	1.00[EUR][1000 genomes]
rs73934323	1.00[EUR][1000 genomes]
rs7559157	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54863000-54899400	Strong transcription	Primary T cells from cord blood	blood
2	chr2:54883000-54899400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:54891000-54899400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:54891200-54899800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:54893800-54899600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:54893800-54900200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:54894000-54899400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:54894000-54899600	Strong transcription	NH-A	brain
9	chr2:54894600-54902200	Weak transcription	Psoas Muscle	Psoas
10	chr2:54894800-54900400	Weak transcription	Small Intestine	intestine
11	chr2:54894800-54900600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:54895200-54900400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:54895400-54900200	Strong transcription	Fetal Muscle Leg	muscle
14	chr2:54895400-54900400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:54895600-54899400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr2:54895800-54899800	Weak transcription	Right Atrium	heart
17	chr2:54895800-54900000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:54895800-54900600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:54895800-54902200	Weak transcription	Ovary	ovary
20	chr2:54896200-54899800	Weak transcription	Esophagus	oesophagus
21	chr2:54896600-54899200	Genic enhancers	HSMMtube	muscle
22	chr2:54896600-54899400	Genic enhancers	HSMM	muscle
23	chr2:54896800-54900600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:54896800-54902400	Weak transcription	K562	blood
25	chr2:54897000-54900400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:54897000-54900600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:54897000-54903800	Weak transcription	Brain Germinal Matrix	brain
28	chr2:54897200-54907800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr2:54897400-54900600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:54897600-54899200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:54897600-54899400	Strong transcription	Fetal Lung	lung
32	chr2:54897600-54899800	Weak transcription	Stomach Mucosa	stomach
33	chr2:54897600-54900000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:54897600-54900200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:54897600-54900400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:54897600-54902800	Weak transcription	Gastric	stomach
37	chr2:54897800-54899200	Weak transcription	Pancreas	Pancrea
38	chr2:54897800-54899600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr2:54897800-54899800	Weak transcription	Colonic Mucosa	Colon
40	chr2:54897800-54900200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr2:54897800-54901200	Strong transcription	A549	lung
42	chr2:54898000-54899200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:54898000-54899200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr2:54898000-54899400	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:54898000-54899600	Weak transcription	Brain Angular Gyrus	brain
46	chr2:54898000-54899600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr2:54898000-54899800	Weak transcription	Left Ventricle	heart
48	chr2:54898000-54900400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:54898000-54901400	Weak transcription	Dnd41	blood
50	chr2:54898200-54899200	Weak transcription	Fetal Intestine Small	intestine

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