Variant report

Variant	rs73104103
Chromosome Location	chr12:48063387-48063388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48059314..48062042-chr12:48063084..48066316,3	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12422974	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12423045	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12426347	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12426849	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35044089	0.82[EUR][1000 genomes]
rs57848393	0.87[EUR][1000 genomes]
rs67201012	0.87[EUR][1000 genomes]
rs67408202	0.87[EUR][1000 genomes]
rs7303895	1.00[EUR][1000 genomes]
rs7304743	1.00[EUR][1000 genomes]
rs73102120	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102125	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102127	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102140	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102148	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102151	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102168	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104138	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73104143	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73104144	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73104148	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73104152	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73104155	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73104161	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73104163	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73104177	0.87[EUR][1000 genomes]
rs73104184	0.87[EUR][1000 genomes]
rs73104188	0.87[EUR][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];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430507	chr12:47883933-48079507	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	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
3	nsv1050043	chr12:47949004-48087218	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv899058	chr12:48012390-48082482	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv695	chr12:48043261-48088221	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73104103	RP1-197B17.3	cis	Thyroid	GTEx

Chromatin state (count:123 , 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	chr12:48031000-48083200	Weak transcription	Esophagus	oesophagus
3	chr12:48040600-48086000	Weak transcription	Fetal Brain Male	brain
4	chr12:48043400-48080000	Weak transcription	NHEK	skin
5	chr12:48045200-48079200	Weak transcription	NHLF	lung
6	chr12:48046200-48068000	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:48046600-48083000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:48046600-48087800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:48046600-48090000	Weak transcription	Psoas Muscle	Psoas
10	chr12:48046600-48097000	Weak transcription	Brain Angular Gyrus	brain
11	chr12:48046600-48097600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:48046600-48099200	Weak transcription	Gastric	stomach
13	chr12:48046800-48079200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:48046800-48083200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:48046800-48098600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:48046800-48099000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:48050200-48065800	Weak transcription	Fetal Heart	heart
18	chr12:48050200-48098600	Weak transcription	Pancreas	Pancrea
19	chr12:48051400-48069200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:48051800-48069400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:48052000-48094400	Weak transcription	Aorta	Aorta
22	chr12:48052800-48064800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr12:48052800-48065000	Strong transcription	Dnd41	blood
24	chr12:48052800-48065200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr12:48052800-48065400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:48053000-48063400	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:48053000-48068600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:48053600-48067000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:48055200-48083200	Weak transcription	Brain Germinal Matrix	brain
30	chr12:48056000-48073000	Weak transcription	Fetal Brain Female	brain
31	chr12:48056000-48075000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:48056000-48099000	Weak transcription	Right Ventricle	heart
33	chr12:48057200-48067000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:48057200-48098800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:48058000-48098600	Weak transcription	Colonic Mucosa	Colon
36	chr12:48058200-48064400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:48058200-48064800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:48058200-48064800	Strong transcription	Primary T cells from cord blood	blood
39	chr12:48058200-48065000	Strong transcription	Liver	Liver
40	chr12:48058200-48065200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr12:48058200-48067200	Strong transcription	Primary B cells from cord blood	blood
42	chr12:48058200-48069000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:48058200-48086000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:48058400-48064400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:48058400-48064800	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr12:48058400-48065000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:48058400-48065200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:48058400-48065200	Strong transcription	Placenta	Placenta
49	chr12:48058400-48065200	Strong transcription	Hela-S3	cervix
50	chr12:48058400-48065800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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