Variant report

Variant	rs6737455
Chromosome Location	chr2:48574520-48574521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48568770..48570498-chr2:48574091..48575734,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17037271	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28399967	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28439229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28485447	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28570232	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28595126	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34136171	0.85[EUR][1000 genomes]
rs56879885	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57729372	0.84[AFR][1000 genomes]
rs60527991	0.82[AFR][1000 genomes]
rs60743061	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62137000	0.91[AFR][1000 genomes]
rs62138796	0.82[AFR][1000 genomes]
rs62138798	0.83[AFR][1000 genomes]
rs62138817	0.88[AFR][1000 genomes]
rs6545031	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6545033	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72887650	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72887686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7563625	0.89[AFR][1000 genomes]
rs7576648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7583112	0.82[AFR][1000 genomes]
rs9677579	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][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	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv874001	chr2:48534363-48624007	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv874002	chr2:48547751-48610367	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv874003	chr2:48570509-48619869	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48569000-48580000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:48570800-48575600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:48570800-48577400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:48571000-48577000	Weak transcription	Spleen	Spleen
5	chr2:48571200-48574800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr2:48571200-48605200	Weak transcription	Colonic Mucosa	Colon
7	chr2:48571600-48580000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:48572200-48597000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:48572400-48580000	Weak transcription	Stomach Mucosa	stomach
10	chr2:48573000-48576200	ZNF genes & repeats	Dnd41	blood
11	chr2:48573000-48578000	ZNF genes & repeats	GM12878-XiMat	blood
12	chr2:48573200-48576400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
13	chr2:48573200-48576400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
14	chr2:48573200-48577600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:48573200-48577800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr2:48573200-48578400	ZNF genes & repeats	Primary B cells from cord blood	blood
17	chr2:48573200-48578800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:48573200-48579400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr2:48573400-48574600	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr2:48573400-48574600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:48573400-48574800	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr2:48573400-48574800	ZNF genes & repeats	Fetal Thymus	thymus
23	chr2:48573400-48574800	ZNF genes & repeats	Thymus	Thymus
24	chr2:48573400-48575200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
25	chr2:48573400-48576000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
26	chr2:48573400-48576000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr2:48573400-48576200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr2:48573400-48576200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:48573400-48576200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:48573400-48576200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
31	chr2:48573400-48576200	ZNF genes & repeats	K562	blood
32	chr2:48573400-48576200	ZNF genes & repeats	NHEK	skin
33	chr2:48573400-48576400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr2:48573400-48576400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr2:48573400-48576600	ZNF genes & repeats	Fetal Muscle Leg	muscle
36	chr2:48573400-48577000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
37	chr2:48573400-48578000	ZNF genes & repeats	Fetal Intestine Large	intestine
38	chr2:48573400-48578000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr2:48573400-48578400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
40	chr2:48573400-48578800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
41	chr2:48573400-48579200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:48573400-48579200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:48573400-48583200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:48573600-48574600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
45	chr2:48573600-48575000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:48573600-48575600	Strong transcription	HMEC	breast
47	chr2:48573600-48576200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
48	chr2:48573600-48578600	Weak transcription	Pancreas	Pancrea
49	chr2:48573600-48579000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:48573600-48579200	ZNF genes & repeats	A549	lung

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