Variant report

Variant	rs10180207
Chromosome Location	chr2:55260946-55260947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55253309..55255989-chr2:55259127..55262322,3	MCF-7	breast:
2	chr2:55256333..55257873-chr2:55260544..55262457,2	MCF-7	breast:
3	chr2:55223597..55226125-chr2:55260747..55262677,2	K562	blood:
4	chr2:55257553..55263983-chr2:55266645..55270936,7	K562	blood:
5	chr2:55215664..55218100-chr2:55259563..55261709,2	K562	blood:
6	chr2:55253656..55256107-chr2:55260589..55262893,2	K562	blood:
7	chr2:55257154..55258943-chr2:55260166..55262885,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10084445	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10170102	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10175952	0.94[EUR][1000 genomes]
rs10179491	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10181115	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10182203	0.90[EUR][1000 genomes]
rs10191684	0.80[AFR][1000 genomes]
rs10191774	0.80[EUR][1000 genomes]
rs10197533	0.92[EUR][1000 genomes]
rs10198096	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10206953	0.80[EUR][1000 genomes]
rs11125554	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13385999	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13394823	0.81[AFR][1000 genomes]
rs13394824	0.81[AFR][1000 genomes]
rs13400353	0.90[EUR][1000 genomes]
rs13401937	0.87[AFR][1000 genomes]
rs17046567	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17046569	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60989108	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6545469	0.80[EUR][1000 genomes]
rs6715980	0.81[EUR][1000 genomes]
rs6725187	0.88[AMR][1000 genomes]
rs72912579	0.92[EUR][1000 genomes]
rs7584992	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874155	chr2:55205262-55307646	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55237600-55272600	Weak transcription	Fetal Stomach	stomach
2	chr2:55241000-55272400	Weak transcription	Fetal Kidney	kidney
3	chr2:55243000-55262400	Weak transcription	Hela-S3	cervix
4	chr2:55245600-55265600	Weak transcription	Stomach Mucosa	stomach
5	chr2:55250400-55271000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:55250400-55274000	Weak transcription	Pancreas	Pancrea
7	chr2:55252600-55261400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:55253400-55273000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:55253800-55261400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:55254200-55269800	Weak transcription	Aorta	Aorta
11	chr2:55254200-55270400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:55254400-55262600	Enhancers	Brain Hippocampus Middle	brain
13	chr2:55254800-55265000	Enhancers	Brain Substantia Nigra	brain
14	chr2:55255200-55261200	Weak transcription	HUVEC	blood vessel
15	chr2:55255400-55272600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:55255400-55272600	Weak transcription	Fetal Intestine Small	intestine
17	chr2:55256400-55266600	Weak transcription	Left Ventricle	heart
18	chr2:55256400-55270400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:55256600-55262200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:55256600-55264000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:55256600-55265200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:55256800-55264200	Weak transcription	HSMMtube	muscle
23	chr2:55257000-55262400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:55257600-55261600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:55257600-55261600	Enhancers	Brain Angular Gyrus	brain
26	chr2:55258000-55261600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:55258000-55262800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:55258000-55263000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr2:55258200-55262800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr2:55258400-55261400	Enhancers	Fetal Muscle Leg	muscle
31	chr2:55259000-55261000	Weak transcription	Osteobl	bone
32	chr2:55259000-55264400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:55259000-55264600	Weak transcription	HMEC	breast
34	chr2:55259000-55264600	Weak transcription	NHLF	lung
35	chr2:55259000-55265600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:55259000-55267400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:55259000-55272800	Weak transcription	Small Intestine	intestine
38	chr2:55259200-55261600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:55259200-55261600	Enhancers	Brain Anterior Caudate	brain
40	chr2:55259200-55262400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:55259200-55264400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:55259200-55272800	Weak transcription	Fetal Heart	heart
43	chr2:55259400-55261600	Enhancers	Primary T cells fromperipheralblood	blood
44	chr2:55259400-55261600	Enhancers	Brain Cingulate Gyrus	brain
45	chr2:55259400-55264400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:55259400-55275200	Weak transcription	Esophagus	oesophagus
47	chr2:55259600-55261400	Enhancers	Primary B cells from peripheral blood	blood
48	chr2:55259600-55263400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:55259600-55263400	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr2:55259800-55261400	Enhancers	Thymus	Thymus

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