Variant report

Variant	rs72676543
Chromosome Location	chr1:45399156-45399157
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45391142..45392671-chr1:45397948..45400134,2	K562	blood:

Variant related genes	Relation type
ENSG00000070785	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11548990	0.88[EUR][1000 genomes]
rs17886354	0.86[AFR][1000 genomes]
rs2228084	0.81[EUR][1000 genomes]
rs2234480	0.81[EUR][1000 genomes]
rs41312020	0.88[EUR][1000 genomes]
rs59432881	0.81[EUR][1000 genomes]
rs6664113	0.82[EUR][1000 genomes]
rs72684406	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72684412	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72684416	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs72684425	0.81[EUR][1000 genomes]
rs72684426	0.81[EUR][1000 genomes]
rs7528534	0.82[EUR][1000 genomes]
rs7543211	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45347600-45410800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:45350800-45411800	Weak transcription	Left Ventricle	heart
3	chr1:45355800-45411200	Weak transcription	Fetal Lung	lung
4	chr1:45356000-45407000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr1:45356000-45423800	Weak transcription	Thymus	Thymus
6	chr1:45357400-45411800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:45359000-45411800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:45359200-45423600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr1:45360600-45410000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:45362200-45424200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:45373000-45411600	Weak transcription	HepG2	liver
12	chr1:45375200-45411800	Weak transcription	Aorta	Aorta
13	chr1:45378200-45412000	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:45378600-45412200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:45384600-45412600	Weak transcription	Psoas Muscle	Psoas
16	chr1:45384800-45406800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:45386200-45406600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:45386400-45411600	Weak transcription	Fetal Kidney	kidney
19	chr1:45387200-45405800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:45387800-45413000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:45387800-45413200	Weak transcription	Spleen	Spleen
22	chr1:45388200-45408400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:45388400-45412800	Weak transcription	Brain Germinal Matrix	brain
24	chr1:45389000-45405600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:45389000-45412600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:45389200-45407400	Weak transcription	Brain Substantia Nigra	brain
27	chr1:45389200-45412800	Weak transcription	Brain Anterior Caudate	brain
28	chr1:45389200-45450200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:45389600-45404000	Weak transcription	Fetal Brain Female	brain
30	chr1:45389800-45412400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:45390400-45426200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:45390600-45411800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:45391000-45406400	Weak transcription	Esophagus	oesophagus
34	chr1:45391000-45411800	Weak transcription	HSMMtube	muscle
35	chr1:45391200-45403000	Weak transcription	A549	lung
36	chr1:45391200-45406200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:45391200-45411600	Weak transcription	Colon Smooth Muscle	Colon
38	chr1:45391200-45412800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr1:45391200-45438400	Weak transcription	Dnd41	blood
40	chr1:45391200-45439800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr1:45391400-45437200	Weak transcription	Fetal Thymus	thymus
42	chr1:45391600-45409400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:45392400-45411800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:45392400-45433800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr1:45392600-45405600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:45392600-45411800	Weak transcription	HSMM	muscle
47	chr1:45392600-45412200	Weak transcription	Liver	Liver
48	chr1:45392600-45412600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:45392600-45423600	Weak transcription	Fetal Intestine Large	intestine
50	chr1:45392800-45443200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links