Variant report

Variant	rs10045128
Chromosome Location	chr5:142420653-142420654
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:142414825..142417650-chr5:142419145..142423301,4	K562	blood:

Variant related genes	Relation type
ENSG00000145819	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10044668	1.00[EUR][1000 genomes]
rs10051655	1.00[EUR][1000 genomes]
rs10056044	1.00[AMR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13356063	1.00[EUR][1000 genomes]
rs2108645	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:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830375	chr5:141991792-142449956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142397000-142431000	Weak transcription	Small Intestine	intestine
2	chr5:142400000-142442600	Weak transcription	Spleen	Spleen
3	chr5:142403600-142421200	Weak transcription	Gastric	stomach
4	chr5:142403600-142445000	Weak transcription	Colonic Mucosa	Colon
5	chr5:142404200-142421000	Weak transcription	Fetal Intestine Small	intestine
6	chr5:142404200-142421400	Weak transcription	Brain Angular Gyrus	brain
7	chr5:142404200-142421400	Weak transcription	Lung	lung
8	chr5:142404400-142421400	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:142405400-142421400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:142405400-142430800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:142405800-142421400	Weak transcription	Brain Anterior Caudate	brain
12	chr5:142405800-142430800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:142406200-142421200	Weak transcription	Fetal Heart	heart
14	chr5:142406200-142421400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:142406200-142421400	Weak transcription	Right Ventricle	heart
16	chr5:142408800-142421200	Weak transcription	Left Ventricle	heart
17	chr5:142410200-142421600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr5:142410200-142430400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr5:142410400-142421400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:142410400-142428200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr5:142410400-142435800	Weak transcription	Dnd41	blood
22	chr5:142410600-142421400	Weak transcription	Adipose Nuclei	Adipose
23	chr5:142410600-142433800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:142410800-142421000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr5:142410800-142421200	Weak transcription	Fetal Thymus	thymus
26	chr5:142410800-142421200	Weak transcription	Thymus	Thymus
27	chr5:142410800-142434000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr5:142410800-142436200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr5:142411000-142421000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr5:142411000-142421400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr5:142411000-142421400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr5:142411000-142421400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr5:142411000-142429600	Weak transcription	Brain Hippocampus Middle	brain
34	chr5:142411000-142433600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr5:142411200-142421000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr5:142412000-142421400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr5:142412000-142421400	Weak transcription	Stomach Mucosa	stomach
38	chr5:142412400-142421400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:142412600-142421400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:142413200-142421400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:142413400-142421200	Weak transcription	Fetal Stomach	stomach
42	chr5:142413400-142430600	Weak transcription	A549	lung
43	chr5:142414200-142421000	Weak transcription	HSMMtube	muscle
44	chr5:142416000-142430400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr5:142416800-142425200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr5:142416800-142426000	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr5:142416800-142430800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr5:142417000-142421400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:142417000-142421400	Weak transcription	Esophagus	oesophagus
50	chr5:142417000-142421800	Weak transcription	NH-A	brain

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