Variant report

Variant	rs55995866
Chromosome Location	chr5:75701344-75701345
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10043040	0.90[EUR][1000 genomes]
rs10044351	0.89[EUR][1000 genomes]
rs10044370	0.90[EUR][1000 genomes]
rs10044373	0.90[EUR][1000 genomes]
rs10057706	0.81[ASN][1000 genomes]
rs10059376	0.81[ASN][1000 genomes]
rs10065322	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10068074	0.90[EUR][1000 genomes]
rs10068404	0.83[EUR][1000 genomes]
rs10070688	0.90[EUR][1000 genomes]
rs10072221	0.90[EUR][1000 genomes]
rs10073228	0.90[EUR][1000 genomes]
rs10073282	0.90[EUR][1000 genomes]
rs10073382	0.91[EUR][1000 genomes]
rs10073448	0.91[EUR][1000 genomes]
rs10077372	0.90[EUR][1000 genomes]
rs10079393	0.89[EUR][1000 genomes]
rs10462539	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10462540	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1122654	0.83[ASN][1000 genomes]
rs11738470	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11740038	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11744637	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11747990	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11749318	0.90[EUR][1000 genomes]
rs12189455	0.81[ASN][1000 genomes]
rs12523532	0.90[EUR][1000 genomes]
rs13175420	0.90[EUR][1000 genomes]
rs13357820	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1984636	0.83[ASN][1000 genomes]
rs28386181	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3886042	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3886043	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3951318	0.81[ASN][1000 genomes]
rs4254886	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4296785	0.85[ASN][1000 genomes]
rs4501323	0.85[ASN][1000 genomes]
rs4501324	0.85[ASN][1000 genomes]
rs4615280	0.90[EUR][1000 genomes]
rs4704310	0.85[ASN][1000 genomes]
rs56189196	0.89[EUR][1000 genomes]
rs57929471	0.82[ASN][1000 genomes]
rs59428516	0.89[EUR][1000 genomes]
rs60570368	0.90[EUR][1000 genomes]
rs62363209	0.82[ASN][1000 genomes]
rs62363210	0.87[ASN][1000 genomes]
rs62363211	0.82[ASN][1000 genomes]
rs6453217	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6865628	0.90[EUR][1000 genomes]
rs6887962	0.91[EUR][1000 genomes]
rs6895725	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7706926	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7707426	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7718641	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7731240	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs875541	0.81[ASN][1000 genomes]
rs875543	0.81[ASN][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	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv882206	chr5:75676658-75746813	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75697800-75702000	Active TSS	Fetal Kidney	kidney
2	chr5:75699200-75701600	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr5:75699800-75701600	Active TSS	Adipose Nuclei	Adipose
4	chr5:75699800-75701600	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr5:75700000-75701400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:75700000-75701600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr5:75700000-75702600	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr5:75700000-75703400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr5:75700000-75703400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:75700000-75703600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:75700200-75701600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:75700200-75701800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr5:75700200-75701800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:75700200-75701800	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr5:75700200-75702000	Flanking Active TSS	Liver	Liver
16	chr5:75700200-75702000	Flanking Active TSS	HepG2	liver
17	chr5:75700200-75702200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr5:75700200-75703000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr5:75700200-75704600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr5:75700400-75701400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr5:75700400-75701600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr5:75700400-75701600	Active TSS	Fetal Brain Female	brain
23	chr5:75700600-75701400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:75700600-75701400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr5:75700600-75703200	Enhancers	Primary B cells from peripheral blood	blood
26	chr5:75700600-75707400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:75700800-75701400	Active TSS	Brain Germinal Matrix	brain
28	chr5:75700800-75701400	Enhancers	Fetal Thymus	thymus
29	chr5:75700800-75701400	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr5:75700800-75701800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:75700800-75701800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr5:75700800-75701800	Weak transcription	Small Intestine	intestine
33	chr5:75700800-75701800	Weak transcription	Stomach Mucosa	stomach
34	chr5:75700800-75702000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr5:75700800-75702400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:75700800-75702400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:75700800-75702600	Enhancers	Fetal Intestine Small	intestine
38	chr5:75700800-75702800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr5:75700800-75703000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:75700800-75707200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:75701000-75702000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:75701000-75702200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:75701000-75702200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr5:75701000-75702600	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr5:75701000-75703400	Enhancers	Primary T cells from cord blood	blood
46	chr5:75701000-75703400	Enhancers	K562	blood
47	chr5:75701000-75706200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr5:75701000-75721600	Weak transcription	Fetal Stomach	stomach
49	chr5:75701200-75701400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:75701200-75701400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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