Variant report

Variant	rs13055548
Chromosome Location	chr22:28308526-28308527
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:28284462..28287110-chr22:28306843..28308571,2	K562	blood:
2	chr22:28305823..28310839-chr22:28313322..28318569,8	MCF-7	breast:
3	chr22:28295306..28297742-chr22:28307525..28310849,3	MCF-7	breast:
4	chr22:28308235..28310167-chr22:28310580..28312213,2	MCF-7	breast:
5	chr22:28301560..28304524-chr22:28307675..28309326,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264073	Chromatin interaction
ENSG00000180957	Chromatin interaction
ENSG00000235954	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs13054964	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13055218	0.81[EUR][1000 genomes]
rs13055244	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13057007	0.81[EUR][1000 genomes]
rs13057353	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13057948	0.85[CEU][hapmap];1.00[AMR][1000 genomes]
rs13058493	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs28360522	0.81[EUR][1000 genomes]
rs34031771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34189918	0.81[EUR][1000 genomes]
rs34364992	0.81[EUR][1000 genomes]
rs34625726	0.81[EUR][1000 genomes]
rs34946887	0.94[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs35098100	1.00[AMR][1000 genomes]
rs35182834	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35568348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35568804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35649017	0.81[EUR][1000 genomes]
rs35750499	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35906248	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs36060887	0.87[AMR][1000 genomes]
rs41281591	0.93[EUR][1000 genomes]
rs71325264	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71325266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71325269	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71325273	0.81[EUR][1000 genomes]
rs736531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs767919	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs910009	1.00[AMR][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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv588878	chr22:28248840-28314113	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28247000-28311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:28277200-28308600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr22:28283600-28310000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr22:28286000-28309000	Weak transcription	Stomach Mucosa	stomach
5	chr22:28286200-28311400	Weak transcription	Right Atrium	heart
6	chr22:28288600-28309400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr22:28289000-28312600	Weak transcription	Psoas Muscle	Psoas
8	chr22:28292800-28309200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr22:28293200-28309000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr22:28293800-28309200	Weak transcription	Brain Substantia Nigra	brain
11	chr22:28293800-28309600	Weak transcription	Right Ventricle	heart
12	chr22:28293800-28311800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr22:28294000-28309200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr22:28295200-28309200	Weak transcription	Brain Angular Gyrus	brain
15	chr22:28295200-28313800	Weak transcription	Colonic Mucosa	Colon
16	chr22:28298400-28314000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:28299200-28314000	Weak transcription	Spleen	Spleen
18	chr22:28299400-28310200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr22:28300400-28309200	Weak transcription	Small Intestine	intestine
20	chr22:28300400-28311400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr22:28300800-28309200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr22:28301400-28309800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr22:28301600-28308600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr22:28303800-28311600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr22:28303800-28313000	Weak transcription	Fetal Brain Female	brain
26	chr22:28303800-28313200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr22:28304000-28309000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr22:28304000-28309200	Weak transcription	Fetal Kidney	kidney
29	chr22:28304000-28309200	Weak transcription	Ovary	ovary
30	chr22:28304000-28309400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr22:28304000-28313200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr22:28304200-28313000	Weak transcription	Fetal Brain Male	brain
33	chr22:28304800-28308600	Strong transcription	NHDF-Ad	bronchial
34	chr22:28306200-28309200	Weak transcription	Pancreas	Pancrea
35	chr22:28306200-28310200	Strong transcription	NHEK	skin
36	chr22:28306400-28308600	Weak transcription	Fetal Intestine Small	intestine
37	chr22:28306400-28308800	Weak transcription	Aorta	Aorta
38	chr22:28306400-28309400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr22:28306400-28309400	Weak transcription	Thymus	Thymus
40	chr22:28306400-28309600	Weak transcription	Gastric	stomach
41	chr22:28306400-28313800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr22:28306400-28313800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr22:28306400-28314200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr22:28306400-28314400	Weak transcription	Esophagus	oesophagus
45	chr22:28306600-28308600	Weak transcription	Left Ventricle	heart
46	chr22:28306600-28309000	Weak transcription	Brain Hippocampus Middle	brain
47	chr22:28306600-28313800	Weak transcription	Lung	lung
48	chr22:28306800-28309400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr22:28306800-28309600	Enhancers	Fetal Heart	heart
50	chr22:28307000-28308600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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