Variant report

Variant	rs56974914
Chromosome Location	chr1:67514703-67514704
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	chr1:67510782..67514868-chr1:67517359..67519551,3	MCF-7	breast:
2	chr1:67489684..67491408-chr1:67513710..67516514,2	K562	blood:

Variant related genes	Relation type
ENSG00000116704	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10157422	0.82[AMR][1000 genomes]
rs12095648	0.86[AMR][1000 genomes]
rs7512229	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7553230	0.86[AMR][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	nsv461751	chr1:67479598-67689036	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv546445	chr1:67479598-67689036	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67473800-67518000	Weak transcription	A549	lung
2	chr1:67484000-67518400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:67486200-67516800	Weak transcription	NHEK	skin
4	chr1:67486800-67515800	Weak transcription	Stomach Mucosa	stomach
5	chr1:67487800-67516600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:67488400-67518000	Weak transcription	Right Ventricle	heart
7	chr1:67495400-67517000	Weak transcription	Small Intestine	intestine
8	chr1:67500200-67517200	Strong transcription	HSMM	muscle
9	chr1:67500400-67516400	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr1:67500800-67515400	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr1:67500800-67516000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:67500800-67516200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:67500800-67516600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:67500800-67517000	Strong transcription	Adipose Nuclei	Adipose
15	chr1:67500800-67517600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:67501000-67517400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:67501400-67516000	Strong transcription	Fetal Intestine Large	intestine
18	chr1:67501400-67516400	Strong transcription	NH-A	brain
19	chr1:67501800-67516000	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:67501800-67516000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr1:67501800-67517000	Strong transcription	Fetal Thymus	thymus
22	chr1:67501800-67517200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr1:67502200-67515600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr1:67502200-67516200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:67502200-67516600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:67502400-67515000	Strong transcription	Primary T cells from cord blood	blood
27	chr1:67502400-67517400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:67503000-67514800	Strong transcription	Placenta	Placenta
29	chr1:67503400-67516200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:67503400-67516600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:67503400-67516600	Strong transcription	Dnd41	blood
32	chr1:67503400-67517200	Strong transcription	Primary hematopoietic stem cells	blood
33	chr1:67504000-67514800	Strong transcription	Brain Anterior Caudate	brain
34	chr1:67504200-67517800	Weak transcription	Fetal Brain Male	brain
35	chr1:67504400-67515200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:67505600-67516600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:67505800-67515600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:67505800-67516400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:67506600-67517400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:67506600-67518400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:67506600-67518400	Weak transcription	Gastric	stomach
42	chr1:67506800-67518000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:67506800-67518400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:67506800-67518400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:67507000-67515600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:67507800-67518200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:67508000-67517600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:67508200-67517200	Strong transcription	Osteobl	bone
49	chr1:67508400-67514800	Strong transcription	Stomach Smooth Muscle	stomach
50	chr1:67508400-67516400	Strong transcription	NHDF-Ad	bronchial

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