Variant report

Variant	rs73063929
Chromosome Location	chr2:210917892-210917893
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	chr2:210910340..210914664-chr2:210915151..210918524,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10048697	0.82[AFR][1000 genomes]
rs1111193	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1990513	0.84[AFR][1000 genomes]
rs2192323	0.82[AFR][1000 genomes]
rs2539868	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2539872	1.00[AMR][1000 genomes]
rs2887881	0.84[AFR][1000 genomes]
rs57875655	1.00[AMR][1000 genomes]
rs58282165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58931716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6739292	0.82[AFR][1000 genomes]
rs73063910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063940	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063963	0.90[AFR][1000 genomes]
rs73065813	0.84[AFR][1000 genomes]
rs73065817	0.84[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	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1004426	chr2:210709999-211001680	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210868000-210920000	Weak transcription	Spleen	Spleen
2	chr2:210874000-210920800	Weak transcription	Fetal Heart	heart
3	chr2:210881800-210953000	Weak transcription	Gastric	stomach
4	chr2:210882400-210919400	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:210882400-210922800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:210882400-210927800	Weak transcription	Right Ventricle	heart
7	chr2:210883000-210920600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:210887800-210919600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:210889000-210919400	Weak transcription	HSMMtube	muscle
10	chr2:210889000-210920200	Weak transcription	Fetal Brain Male	brain
11	chr2:210889000-210925600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:210890000-210919200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:210891000-210927800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:210891400-210918800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:210893400-210939000	Weak transcription	Brain Substantia Nigra	brain
16	chr2:210894000-210969400	Weak transcription	Fetal Kidney	kidney
17	chr2:210899600-210919200	Weak transcription	Brain Anterior Caudate	brain
18	chr2:210902400-210919200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:210904200-210919400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:210907200-210919200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:210908800-210919200	Weak transcription	Adipose Nuclei	Adipose
22	chr2:210911600-210925000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:210911600-210928000	Weak transcription	Primary T cells from cord blood	blood
24	chr2:210911600-210980800	Weak transcription	Pancreas	Pancrea
25	chr2:210911800-210918200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:210911800-210919000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:210911800-210919200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:210911800-210919400	Weak transcription	Fetal Stomach	stomach
29	chr2:210911800-210919600	Weak transcription	Ovary	ovary
30	chr2:210911800-210920000	Weak transcription	Aorta	Aorta
31	chr2:210911800-210920600	Weak transcription	Esophagus	oesophagus
32	chr2:210911800-210920600	Weak transcription	Lung	lung
33	chr2:210911800-210921000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:210912000-210919200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:210912000-210919800	Weak transcription	Left Ventricle	heart
36	chr2:210912000-210920000	Weak transcription	Thymus	Thymus
37	chr2:210912600-210919200	Weak transcription	Brain Germinal Matrix	brain
38	chr2:210912600-210919200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:210912600-210919400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:210912800-210919200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:210912800-210919400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:210913000-210919000	Weak transcription	Fetal Brain Female	brain
43	chr2:210913000-210919200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr2:210913000-210919400	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:210913000-210919800	Weak transcription	Fetal Intestine Small	intestine
46	chr2:210913000-210937800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:210913000-210964400	Weak transcription	Primary B cells from cord blood	blood
48	chr2:210913200-210923400	Weak transcription	Fetal Intestine Large	intestine
49	chr2:210913800-210919000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr2:210914000-210919000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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