Variant report

Variant	rs73951137
Chromosome Location	chr2:74307769-74307770
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74135282..74138023-chr2:74306309..74308409,2	K562	blood:
2	chr2:74224947..74225590-chr2:74307213..74308057,2	MCF-7	breast:
3	chr2:74210985..74213488-chr2:74306326..74309716,4	MCF-7	breast:
4	chr2:74227468..74229424-chr2:74305762..74308272,2	K562	blood:
5	chr2:74210549..74215392-chr2:74304825..74309552,5	MCF-7	breast:
6	chr2:74295370..74297334-chr2:74306137..74308629,2	MCF-7	breast:
7	chr2:74305435..74308379-chr2:74347377..74349549,3	K562	blood:

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

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs56196018	0.81[AFR][1000 genomes]
rs56220427	0.81[AFR][1000 genomes]
rs57078518	0.81[AFR][1000 genomes]
rs60232103	0.81[AFR][1000 genomes]
rs60800561	0.81[AFR][1000 genomes]
rs61190810	0.81[AFR][1000 genomes]
rs72816199	0.81[AFR][1000 genomes]
rs73948286	0.81[AFR][1000 genomes]
rs73948996	1.00[AMR][1000 genomes]
rs73951129	0.81[AFR][1000 genomes]
rs73951131	0.81[AFR][1000 genomes]
rs73951132	0.81[AFR][1000 genomes]
rs73951133	0.81[AFR][1000 genomes]
rs73951134	0.81[AFR][1000 genomes]
rs73951135	0.81[AFR][1000 genomes]
rs73951136	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:122 , 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	chr2:74275800-74307800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:74275800-74317000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:74277000-74308000	Weak transcription	Adipose Nuclei	Adipose
8	chr2:74279200-74317000	Weak transcription	Small Intestine	intestine
9	chr2:74281800-74310200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:74282000-74319600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:74284200-74307800	Weak transcription	Esophagus	oesophagus
12	chr2:74287400-74314000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:74287600-74310600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:74296600-74307800	Weak transcription	Colonic Mucosa	Colon
15	chr2:74298400-74320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:74299800-74332000	Strong transcription	Dnd41	blood
17	chr2:74299800-74333800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:74300000-74314200	Weak transcription	HMEC	breast
19	chr2:74300000-74333200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:74300400-74308000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:74300800-74333600	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:74301600-74308400	Weak transcription	Fetal Kidney	kidney
23	chr2:74301800-74308200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:74301800-74308400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:74301800-74318000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:74302000-74307800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:74302000-74308200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:74302000-74309600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:74302800-74307800	Weak transcription	Right Ventricle	heart
30	chr2:74303200-74309400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:74303200-74310200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:74303200-74321000	Weak transcription	Fetal Brain Male	brain
33	chr2:74303400-74308000	Weak transcription	A549	lung
34	chr2:74303400-74308200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr2:74304600-74314000	Weak transcription	Stomach Mucosa	stomach
36	chr2:74305000-74307800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:74305000-74308000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:74305000-74308000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:74305000-74316600	Weak transcription	Right Atrium	heart
40	chr2:74305200-74307800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:74305200-74308000	Weak transcription	Primary B cells from cord blood	blood
42	chr2:74305200-74308000	Weak transcription	Brain Anterior Caudate	brain
43	chr2:74305200-74308000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:74305200-74308000	Weak transcription	Brain Substantia Nigra	brain
45	chr2:74305400-74307800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:74305800-74313200	Weak transcription	Fetal Heart	heart
47	chr2:74306000-74308600	Enhancers	K562	blood
48	chr2:74306000-74332400	Strong transcription	Fetal Intestine Small	intestine
49	chr2:74306400-74332000	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr2:74306600-74308400	Genic enhancers	Placenta	Placenta

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