Variant report

Variant	rs2108645
Chromosome Location	chr5:142459507-142459508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10044668	1.00[EUR][1000 genomes]
rs10045128	1.00[EUR][1000 genomes]
rs10051655	1.00[EUR][1000 genomes]
rs10056044	1.00[EUR][1000 genomes]
rs10074187	1.00[EUR][1000 genomes]
rs10076583	1.00[EUR][1000 genomes]
rs10080138	1.00[EUR][1000 genomes]
rs10155562	1.00[EUR][1000 genomes]
rs10214217	1.00[EUR][1000 genomes]
rs10477199	1.00[EUR][1000 genomes]
rs10477202	1.00[EUR][1000 genomes]
rs11951777	1.00[EUR][1000 genomes]
rs12332305	1.00[EUR][1000 genomes]
rs13356063	1.00[EUR][1000 genomes]
rs28688005	1.00[EUR][1000 genomes]
rs58817012	1.00[EUR][1000 genomes]
rs7702357	1.00[EUR][1000 genomes]
rs9324902	1.00[EUR][1000 genomes]
rs9324906	1.00[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	nsv830511	chr5:142335447-142496694	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1025662	chr5:142345454-142498236	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv522807	chr5:142417658-142529960	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142443600-142465000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr5:142443800-142473600	Weak transcription	Aorta	Aorta
3	chr5:142445400-142466600	Weak transcription	Brain Anterior Caudate	brain
4	chr5:142445600-142464000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr5:142446200-142473400	Weak transcription	Stomach Mucosa	stomach
6	chr5:142447000-142471600	Weak transcription	Dnd41	blood
7	chr5:142447200-142464800	Weak transcription	Fetal Lung	lung
8	chr5:142447400-142473600	Weak transcription	Adipose Nuclei	Adipose
9	chr5:142447400-142480200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr5:142447800-142462800	Weak transcription	Thymus	Thymus
11	chr5:142448600-142465200	Weak transcription	NHLF	lung
12	chr5:142448600-142473600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:142449000-142464000	Weak transcription	Small Intestine	intestine
14	chr5:142449400-142487600	Weak transcription	Liver	Liver
15	chr5:142449600-142464800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr5:142449800-142463400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:142449800-142473800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr5:142450000-142497000	Weak transcription	Primary B cells from cord blood	blood
19	chr5:142451600-142466600	Weak transcription	Fetal Intestine Large	intestine
20	chr5:142452200-142465200	Weak transcription	A549	lung
21	chr5:142453800-142469400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr5:142454600-142463200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr5:142454600-142463600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr5:142454600-142464000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:142454600-142466200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:142454600-142466400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:142454800-142465200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:142455800-142460400	Strong transcription	Primary T cells from cord blood	blood
29	chr5:142455800-142463200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:142455800-142466200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:142456200-142461200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr5:142457000-142459600	Enhancers	Fetal Muscle Leg	muscle
33	chr5:142457400-142462600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr5:142457600-142463000	Weak transcription	Right Atrium	heart
35	chr5:142457600-142466400	Weak transcription	Lung	lung
36	chr5:142457800-142460000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:142457800-142465200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr5:142457800-142466600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr5:142458000-142462800	Weak transcription	Left Ventricle	heart
40	chr5:142458000-142464000	Weak transcription	Fetal Intestine Small	intestine
41	chr5:142458000-142466200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:142458000-142466200	Weak transcription	Placenta	Placenta
43	chr5:142458000-142466800	Weak transcription	Fetal Stomach	stomach
44	chr5:142458000-142469000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr5:142458000-142488400	Weak transcription	Gastric	stomach
46	chr5:142458400-142460600	Weak transcription	Fetal Heart	heart
47	chr5:142458800-142459800	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr5:142458800-142466200	Weak transcription	HSMMtube	muscle
49	chr5:142458800-142466200	Weak transcription	NHDF-Ad	bronchial
50	chr5:142459000-142459800	Strong transcription	Fetal Muscle Trunk	muscle

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