Variant report

Variant	rs3748946
Chromosome Location	chr2:55813678-55813679
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55813293..55814824-chr2:55818333..55821254,2	MCF-7	breast:
2	chr2:55812932..55815807-chr2:55836794..55839488,2	K562	blood:
3	chr2:55806123..55808942-chr2:55812057..55814728,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4671258	1.00[JPT][hapmap]

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	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv874160	chr2:55713102-55828974	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv525434	chr2:55716650-55841640	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv834080	chr2:55741036-55927928	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	esv2757798	chr2:55747239-55981074	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	esv2759050	chr2:55747239-55981074	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1008452	chr2:55809191-55987274	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55752600-55831400	Weak transcription	Stomach Mucosa	stomach
2	chr2:55769600-55816000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:55770400-55818200	Weak transcription	Small Intestine	intestine
4	chr2:55770600-55821600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr2:55770800-55815800	Strong transcription	Liver	Liver
6	chr2:55779600-55816200	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:55779600-55831400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:55788600-55816600	Strong transcription	Primary B cells from peripheral blood	blood
9	chr2:55788800-55825200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:55789800-55822800	Weak transcription	HSMMtube	muscle
11	chr2:55789800-55843600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:55790200-55829000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:55790200-55842400	Weak transcription	Fetal Brain Male	brain
14	chr2:55790400-55836200	Weak transcription	Fetal Heart	heart
15	chr2:55790800-55816600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:55790800-55819400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:55793400-55817000	Strong transcription	Fetal Thymus	thymus
18	chr2:55794200-55818200	Weak transcription	Psoas Muscle	Psoas
19	chr2:55794400-55825200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:55794400-55829000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:55794800-55816200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr2:55796800-55823800	Weak transcription	Thymus	Thymus
23	chr2:55796800-55825200	Weak transcription	Brain Substantia Nigra	brain
24	chr2:55796800-55825600	Weak transcription	Pancreas	Pancrea
25	chr2:55796800-55829400	Weak transcription	Esophagus	oesophagus
26	chr2:55796800-55842600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:55797000-55818200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:55797000-55824200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:55797000-55828000	Weak transcription	Aorta	Aorta
30	chr2:55797000-55829400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:55797000-55829600	Weak transcription	Gastric	stomach
32	chr2:55801400-55820000	Weak transcription	Ovary	ovary
33	chr2:55802200-55815800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr2:55802200-55818200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:55802400-55816200	Strong transcription	Placenta	Placenta
36	chr2:55802400-55816800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:55802400-55816800	Strong transcription	HepG2	liver
38	chr2:55803000-55838800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:55803200-55823800	Weak transcription	Lung	lung
40	chr2:55803400-55821200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:55804000-55814400	Weak transcription	Fetal Intestine Small	intestine
42	chr2:55804000-55814400	Weak transcription	Fetal Stomach	stomach
43	chr2:55804000-55824000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:55804200-55818200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:55804200-55820600	Weak transcription	Left Ventricle	heart
46	chr2:55804400-55825200	Weak transcription	K562	blood
47	chr2:55806200-55820600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr2:55806600-55825600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:55806800-55815600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:55806800-55825200	Weak transcription	Placenta Amnion	Placenta Amnion

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