Variant report

Variant	rs1171495
Chromosome Location	chr10:22944854-22944855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:22925448..22927926-chr10:22944270..22946510,2	MCF-7	breast:
2	chr10:22944721..22947461-chr10:23031170..23034103,2	MCF-7	breast:
3	chr10:22943900..22945955-chr10:23001727..23004467,2	K562	blood:
4	chr10:22932646..22934969-chr10:22944582..22946637,2	K562	blood:
5	chr10:22937993..22940131-chr10:22944693..22947159,2	K562	blood:
6	chr10:22861092..22863092-chr10:22944384..22945902,2	K562	blood:
7	chr10:22940458..22943239-chr10:22943736..22945993,2	K562	blood:

Variant related genes	Relation type
ENSG00000150867	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1171491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1171498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1171501	1.00[AFR][1000 genomes]
rs1171508	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12241403	1.00[CEU][hapmap]
rs12249960	0.85[AMR][1000 genomes]
rs12260388	1.00[AFR][1000 genomes]
rs1326335	1.00[AFR][1000 genomes]
rs1326337	1.00[AFR][1000 genomes]
rs1326339	1.00[CEU][hapmap]
rs1326342	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1359641	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1359643	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1536333	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs1536335	1.00[AFR][1000 genomes]
rs1620658	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1627549	0.96[EUR][1000 genomes]
rs1628535	0.96[EUR][1000 genomes]
rs16922592	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs1750764	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1750765	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1750766	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1750767	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1750768	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1750769	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1750771	0.96[EUR][1000 genomes]
rs1750772	0.96[EUR][1000 genomes]
rs1750773	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1750774	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1778305	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1778309	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1778312	0.83[EUR][1000 genomes]
rs1778313	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1778319	0.92[EUR][1000 genomes]
rs1778320	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1778321	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1778322	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1778324	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1778325	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1778326	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1778328	0.96[EUR][1000 genomes]
rs1778329	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1778330	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1778332	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1778341	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1778344	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1831001	1.00[AFR][1000 genomes]
rs1887093	1.00[AFR][1000 genomes]
rs2559519	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2559525	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2798980	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35386008	1.00[AFR][1000 genomes]
rs7082472	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs7084761	1.00[AFR][1000 genomes]
rs7087100	1.00[AFR][1000 genomes]
rs943191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs943193	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830947	chr10:22881196-23004381	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv831809	chr10:22918101-23069676	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22915000-22951800	Weak transcription	Fetal Intestine Small	intestine
2	chr10:22929600-22948400	Enhancers	Brain Cingulate Gyrus	brain
3	chr10:22935000-22945400	Enhancers	Primary B cells from peripheral blood	blood
4	chr10:22935200-22953000	Enhancers	Brain Substantia Nigra	brain
5	chr10:22936400-22958000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:22937800-22947800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr10:22937800-22951200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr10:22937800-22955200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr10:22938200-22947800	Weak transcription	NH-A	brain
10	chr10:22938800-22946800	Enhancers	Primary hematopoietic stem cells	blood
11	chr10:22938800-22949400	Weak transcription	HMEC	breast
12	chr10:22938800-22949600	Weak transcription	NHEK	skin
13	chr10:22939000-22946000	Weak transcription	Psoas Muscle	Psoas
14	chr10:22939000-22947600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr10:22939400-22945200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:22940800-22951800	Weak transcription	Left Ventricle	heart
17	chr10:22941000-22945800	Weak transcription	HSMM	muscle
18	chr10:22941000-22947800	Weak transcription	HepG2	liver
19	chr10:22941400-22945800	Weak transcription	HSMMtube	muscle
20	chr10:22941600-22945800	Genic enhancers	GM12878-XiMat	blood
21	chr10:22941600-22949200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr10:22942000-22946800	Enhancers	Fetal Thymus	thymus
23	chr10:22942000-22952800	Enhancers	Brain Hippocampus Middle	brain
24	chr10:22942200-22945000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr10:22942200-22945000	Enhancers	Duodenum Mucosa	Duodenum
26	chr10:22942400-22947400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr10:22942400-22947600	Weak transcription	Adipose Nuclei	Adipose
28	chr10:22942400-22959800	Weak transcription	Right Ventricle	heart
29	chr10:22942600-22945600	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr10:22942600-22947400	Weak transcription	Dnd41	blood
31	chr10:22942600-22947600	Weak transcription	K562	blood
32	chr10:22942600-22949200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr10:22942600-22949400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr10:22942800-22947800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr10:22943200-22945400	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr10:22943200-22948200	Enhancers	Brain Anterior Caudate	brain
37	chr10:22943400-22945000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr10:22943400-22945000	Enhancers	Esophagus	oesophagus
39	chr10:22943400-22945200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr10:22943400-22945400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr10:22943400-22945400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr10:22943400-22945400	Enhancers	H9 Cell Line	embryonic stem cell
43	chr10:22943400-22945400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr10:22943400-22948600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr10:22943400-22952200	Enhancers	Brain Angular Gyrus	brain
46	chr10:22943600-22945000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr10:22943600-22945000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr10:22943600-22945200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr10:22943600-22945200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr10:22943600-22945200	Enhancers	Placenta	Placenta

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