Variant report

Variant	rs10080138
Chromosome Location	chr5:142341166-142341167
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	5:142340582-142342235..5:142347475-142349069	H1-hESC	embryonic stem cell:	embryo

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10044668	1.00[EUR][1000 genomes]
rs10045128	1.00[EUR][1000 genomes]
rs10051655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10056044	1.00[EUR][1000 genomes]
rs10074187	1.00[EUR][1000 genomes]
rs10076583	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]
rs12332305	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[AMR][1000 genomes];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	nsv1031126	chr5:141893763-142399571	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142313400-142345200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr5:142313400-142356800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr5:142313400-142357200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:142313400-142360800	Weak transcription	Aorta	Aorta
5	chr5:142313400-142360800	Weak transcription	Fetal Intestine Large	intestine
6	chr5:142314400-142359000	Weak transcription	Placenta	Placenta
7	chr5:142315400-142353000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:142315600-142347200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:142316000-142357200	Weak transcription	Primary B cells from cord blood	blood
10	chr5:142318400-142341600	Weak transcription	Brain Substantia Nigra	brain
11	chr5:142318800-142349200	Weak transcription	Brain Angular Gyrus	brain
12	chr5:142331600-142348600	Weak transcription	Fetal Intestine Small	intestine
13	chr5:142334400-142350800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr5:142334400-142356800	Weak transcription	Primary T cells from cord blood	blood
15	chr5:142336000-142356400	Weak transcription	Lung	lung
16	chr5:142336200-142345600	Weak transcription	Small Intestine	intestine
17	chr5:142337600-142356000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:142337600-142356400	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:142337800-142345200	Weak transcription	Fetal Lung	lung
20	chr5:142338200-142341600	Enhancers	HepG2	liver
21	chr5:142338600-142341200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:142338800-142341600	Flanking Active TSS	A549	lung
23	chr5:142339200-142345400	Weak transcription	Stomach Mucosa	stomach
24	chr5:142339200-142349200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr5:142339200-142349400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr5:142339200-142360800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:142339400-142342000	Weak transcription	Colon Smooth Muscle	Colon
28	chr5:142339400-142345000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:142339400-142351200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:142339600-142349200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr5:142339600-142349200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:142339600-142349400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr5:142339800-142341400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr5:142339800-142344400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr5:142339800-142347400	Weak transcription	Gastric	stomach
36	chr5:142339800-142349200	Weak transcription	Right Ventricle	heart
37	chr5:142339800-142351200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:142339800-142357000	Weak transcription	HSMMtube	muscle
39	chr5:142340200-142345200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:142340400-142342000	Weak transcription	NHLF	lung
41	chr5:142340400-142344200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr5:142340600-142341800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:142340800-142341200	Enhancers	Left Ventricle	heart
44	chr5:142340800-142341200	Enhancers	Pancreas	Pancrea
45	chr5:142340800-142341200	Enhancers	Right Atrium	heart
46	chr5:142340800-142345400	Weak transcription	HMEC	breast
47	chr5:142340800-142357000	Weak transcription	NHEK	skin
48	chr5:142341000-142341200	Enhancers	Fetal Heart	heart
49	chr5:142341000-142341400	Genic enhancers	Primary monocytes fromperipheralblood	blood
50	chr5:142341000-142341400	Weak transcription	Hela-S3	cervix

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