Variant report

Variant	rs57142071
Chromosome Location	chr12:123106101-123106102
allele	C/T
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]
rs55817227	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55935830	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56019922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56977093	0.81[AFR][1000 genomes]
rs56990369	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57766838	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58276954	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60586933	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61062446	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61275910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61585633	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6489161	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7134209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7297776	0.86[AFR][1000 genomes]
rs7307052	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7310898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7960674	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7972727	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7973067	0.85[AFR][1000 genomes];1.00[AMR][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	nsv1041677	chr12:122991478-123114125	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	64 gene(s)	inside rSNPs	diseases
2	nsv1054458	chr12:123045662-123133545	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	esv2761772	chr12:123045674-123115508	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123012400-123114000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:123012400-123117000	Weak transcription	Pancreas	Pancrea
3	chr12:123012400-123121200	Weak transcription	Aorta	Aorta
4	chr12:123012800-123109200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:123013000-123109200	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:123013200-123112400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:123013400-123107400	Weak transcription	Fetal Heart	heart
8	chr12:123013400-123120600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:123015600-123115000	Strong transcription	Dnd41	blood
10	chr12:123022600-123113800	Weak transcription	Colonic Mucosa	Colon
11	chr12:123029200-123107600	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:123037200-123113000	Weak transcription	Brain Anterior Caudate	brain
13	chr12:123038400-123120000	Weak transcription	Small Intestine	intestine
14	chr12:123042600-123107200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:123043800-123121800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:123050800-123112600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:123050800-123115200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:123058600-123110200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:123059400-123119000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:123060200-123113000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:123077000-123106400	Weak transcription	Right Ventricle	heart
22	chr12:123077400-123137600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:123077600-123115000	Weak transcription	Esophagus	oesophagus
24	chr12:123077600-123128200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:123081000-123116000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:123084600-123112600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:123085800-123120800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:123086200-123112200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:123086400-123111800	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr12:123086400-123115000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:123086400-123115000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:123086400-123116400	Strong transcription	Fetal Thymus	thymus
33	chr12:123087000-123116200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:123087400-123115000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:123088000-123122200	Weak transcription	HSMMtube	muscle
36	chr12:123089000-123115400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:123091800-123107200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:123092400-123109000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:123093600-123109600	Strong transcription	Fetal Stomach	stomach
40	chr12:123094000-123109000	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr12:123094200-123107400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr12:123094200-123108200	Weak transcription	Psoas Muscle	Psoas
43	chr12:123094200-123108400	Strong transcription	Fetal Intestine Large	intestine
44	chr12:123094200-123108600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:123094200-123109600	Strong transcription	Fetal Muscle Leg	muscle
46	chr12:123096400-123109800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:123096400-123112000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:123096400-123113600	Weak transcription	Gastric	stomach
49	chr12:123096400-123119400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr12:123096400-123120200	Weak transcription	Stomach Smooth Muscle	stomach

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