Variant report

Variant	rs73104152
Chromosome Location	chr12:48092874-48092875
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48038756..48040401-chr12:48092675..48094968,2	K562	blood:
2	chr12:48091436..48093570-chr12:48095325..48097034,2	MCF-7	breast:
3	chr12:48092278..48094742-chr12:48098274..48100605,3	K562	blood:
4	chr12:48083861..48085835-chr12:48091960..48094223,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000005175	Chromatin interaction
ENSG00000257433	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12422974	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12423045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12426347	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12426849	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35044089	0.82[EUR][1000 genomes]
rs57848393	0.95[EUR][1000 genomes]
rs67201012	0.95[EUR][1000 genomes]
rs67408202	0.95[EUR][1000 genomes]
rs7303895	0.93[EUR][1000 genomes]
rs7304743	0.93[EUR][1000 genomes]
rs73102120	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73102125	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73102127	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73102140	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73102148	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73102151	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73102166	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73102168	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73102171	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73102188	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73102195	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73102201	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73104103	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73104104	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73104111	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73104115	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73104116	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73104138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104177	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73104184	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73104188	0.95[EUR][1000 genomes]
rs73104190	1.00[AFR][1000 genomes]
rs73104197	1.00[AFR][1000 genomes]
rs73105818	1.00[AFR][1000 genomes]
rs73105829	1.00[AFR][1000 genomes]
rs73105845	1.00[AFR][1000 genomes]
rs73105847	1.00[AFR][1000 genomes]
rs73111258	0.82[EUR][1000 genomes]
rs73113117	0.82[EUR][1000 genomes]
rs73113139	0.82[EUR][1000 genomes]
rs73113143	0.82[EUR][1000 genomes]
rs73113159	0.89[EUR][1000 genomes]
rs73113161	0.89[EUR][1000 genomes]
rs7954764	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73104152	RP1-197B17.3	cis	Thyroid	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48029800-48098800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:48046600-48097000	Weak transcription	Brain Angular Gyrus	brain
3	chr12:48046600-48097600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:48046600-48099200	Weak transcription	Gastric	stomach
5	chr12:48046800-48098600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:48046800-48099000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:48050200-48098600	Weak transcription	Pancreas	Pancrea
8	chr12:48052000-48094400	Weak transcription	Aorta	Aorta
9	chr12:48056000-48099000	Weak transcription	Right Ventricle	heart
10	chr12:48057200-48098800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:48058000-48098600	Weak transcription	Colonic Mucosa	Colon
12	chr12:48060600-48094200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:48060800-48094200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:48062600-48094200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:48062800-48098600	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:48063000-48099000	Weak transcription	Small Intestine	intestine
17	chr12:48064600-48099200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:48068400-48097200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:48074000-48093600	Weak transcription	HMEC	breast
20	chr12:48074000-48095400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:48074000-48095800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr12:48074200-48097000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:48074200-48099000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr12:48075600-48097200	Weak transcription	Left Ventricle	heart
25	chr12:48075600-48098600	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:48076000-48098800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr12:48077200-48095800	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:48079600-48097600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:48081600-48097800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:48083600-48094400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:48083600-48097600	Weak transcription	Spleen	Spleen
32	chr12:48083600-48098600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr12:48083800-48098600	Weak transcription	Esophagus	oesophagus
34	chr12:48083800-48098800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr12:48083800-48099200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:48084000-48095200	Strong transcription	A549	lung
37	chr12:48084000-48095800	Strong transcription	Fetal Thymus	thymus
38	chr12:48085000-48096800	Strong transcription	Dnd41	blood
39	chr12:48085200-48095000	Strong transcription	Primary T cells from cord blood	blood
40	chr12:48085800-48095000	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:48086000-48095400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:48086400-48096000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:48086400-48096600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:48086400-48097000	Weak transcription	Fetal Heart	heart
45	chr12:48086400-48098000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:48086400-48098800	Weak transcription	Fetal Brain Male	brain
47	chr12:48086600-48093800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:48086600-48094200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:48086600-48098800	Weak transcription	HSMMtube	muscle
50	chr12:48086800-48093400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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