Variant report

Variant	rs74134428
Chromosome Location	chr1:185134667-185134668
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185133181..185135413-chr1:185139132..185141782,2	K562	blood:
2	chr1:185118825..185122081-chr1:185134391..185138048,3	K562	blood:
3	chr1:185134171..185136406-chr1:185138241..185141622,3	MCF-7	breast:
4	chr1:185126593..185129222-chr1:185131770..185134978,3	K562	blood:
5	chr1:185133181..185136561-chr1:185138198..185141782,4	K562	blood:

Variant related genes	Relation type
ENSG00000231084	Chromatin interaction
ENSG00000116668	Chromatin interaction

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

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

rs_ID	r²[population]
rs59154649	1.00[AFR][1000 genomes]
rs59444625	1.00[AFR][1000 genomes]
rs74134429	1.00[AFR][1000 genomes]
rs74134430	1.00[AFR][1000 genomes]
rs74134442	1.00[AFR][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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking 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 miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548396	chr1:185038104-185151378	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv521613	chr1:185071831-185171869	Flanking Active TSS Strong transcription Weak transcription Enhancers 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	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185127200-185147000	Weak transcription	Spleen	Spleen
2	chr1:185127200-185169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:185127400-185135400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:185127400-185135600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:185127400-185136400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:185127400-185144400	Weak transcription	Pancreas	Pancrea
7	chr1:185127400-185152200	Weak transcription	Aorta	Aorta
8	chr1:185127400-185153000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:185127400-185157400	Weak transcription	Small Intestine	intestine
10	chr1:185127400-185163400	Weak transcription	Esophagus	oesophagus
11	chr1:185127400-185192000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:185127600-185135200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:185127600-185135800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:185127600-185136400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr1:185127600-185138400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:185127600-185138800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:185127600-185139200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:185127600-185139400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:185127600-185139400	Weak transcription	Fetal Kidney	kidney
20	chr1:185127600-185144400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:185127600-185144800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:185127600-185145200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:185127600-185145400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:185127600-185147400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:185127600-185170000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:185127600-185184600	Weak transcription	Psoas Muscle	Psoas
27	chr1:185127600-185218200	Weak transcription	Right Ventricle	heart
28	chr1:185127800-185136400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:185127800-185147000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:185128000-185135600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:185128000-185136200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:185128000-185136600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:185128000-185137000	Weak transcription	NH-A	brain
34	chr1:185128000-185166400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:185128200-185135000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:185128200-185135000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:185128200-185135200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr1:185128200-185135800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:185128200-185139400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr1:185128200-185139400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:185128200-185139400	Weak transcription	Dnd41	blood
42	chr1:185128200-185147200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr1:185128200-185153800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:185128200-185161200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:185128400-185135200	Weak transcription	Fetal Intestine Small	intestine
46	chr1:185128400-185136200	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:185128400-185136200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr1:185128400-185136400	Weak transcription	Brain Anterior Caudate	brain
49	chr1:185128400-185136400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:185128400-185137000	Weak transcription	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links