Variant report

Variant	rs73951134
Chromosome Location	chr2:74303437-74303438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74296119..74298697-chr2:74300085..74304083,6	K562	blood:
2	chr2:74302146..74304941-chr2:74345913..74348314,2	K562	blood:
3	chr2:74296493..74298697-chr2:74301422..74303522,3	K562	blood:
4	chr2:74303308..74305107-chr2:74335863..74338424,2	K562	blood:
5	chr2:74210506..74213042-chr2:74302850..74305189,2	K562	blood:
6	chr2:74212010..74214395-chr2:74301311..74304248,2	MCF-7	breast:
7	chr2:74299165..74300793-chr2:74302480..74304693,2	MCF-7	breast:
8	chr2:74303366..74305130-chr2:74308677..74311311,2	K562	blood:
9	chr2:74211335..74216336-chr2:74300187..74305558,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255989	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000235499	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs56196018	1.00[AFR][1000 genomes]
rs56220427	1.00[AFR][1000 genomes]
rs57078518	1.00[AFR][1000 genomes]
rs60232103	1.00[AFR][1000 genomes]
rs60800561	1.00[AFR][1000 genomes]
rs61190810	1.00[AFR][1000 genomes]
rs72816199	1.00[AFR][1000 genomes]
rs73948286	1.00[AFR][1000 genomes]
rs73951129	1.00[AFR][1000 genomes]
rs73951131	1.00[AFR][1000 genomes]
rs73951132	1.00[AFR][1000 genomes]
rs73951133	1.00[AFR][1000 genomes]
rs73951135	1.00[AFR][1000 genomes]
rs73951136	1.00[AFR][1000 genomes]
rs73951137	0.81[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	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv874284	chr2:74283728-74348797	Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv874285	chr2:74283728-74355244	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74264800-74311000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:74265400-74315000	Weak transcription	HUVEC	blood vessel
3	chr2:74269800-74328000	Weak transcription	Psoas Muscle	Psoas
4	chr2:74275200-74307800	Weak transcription	Aorta	Aorta
5	chr2:74275600-74304000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:74275800-74307800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:74275800-74317000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:74276200-74307600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:74276800-74307400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:74277000-74307600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:74277000-74308000	Weak transcription	Adipose Nuclei	Adipose
12	chr2:74277200-74307600	Weak transcription	Spleen	Spleen
13	chr2:74277200-74307600	Weak transcription	Hela-S3	cervix
14	chr2:74277600-74306800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:74279200-74317000	Weak transcription	Small Intestine	intestine
16	chr2:74281200-74306800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:74281600-74307600	Weak transcription	Pancreas	Pancrea
18	chr2:74281800-74310200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:74282000-74319600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr2:74284200-74307800	Weak transcription	Esophagus	oesophagus
21	chr2:74287400-74306600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:74287400-74314000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:74287600-74310600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:74291800-74307400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:74294000-74303800	Weak transcription	Brain Substantia Nigra	brain
26	chr2:74294000-74307600	Weak transcription	Ovary	ovary
27	chr2:74294400-74307200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:74294600-74304000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:74294600-74307000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:74294800-74304000	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:74295000-74303800	Weak transcription	Brain Angular Gyrus	brain
32	chr2:74295000-74307400	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:74295200-74306800	Weak transcription	Lung	lung
34	chr2:74295800-74305200	Strong transcription	Primary B cells from cord blood	blood
35	chr2:74296200-74306800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:74296600-74307800	Weak transcription	Colonic Mucosa	Colon
37	chr2:74296800-74304200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:74298000-74305000	Strong transcription	Primary T cells from cord blood	blood
39	chr2:74298400-74306800	Weak transcription	Fetal Stomach	stomach
40	chr2:74298400-74320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:74299200-74307000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:74299200-74307600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:74299400-74304600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:74299400-74306800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:74299600-74304400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr2:74299800-74304000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:74299800-74332000	Strong transcription	Dnd41	blood
48	chr2:74299800-74333800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:74300000-74304000	Genic enhancers	K562	blood
50	chr2:74300000-74306800	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links