Variant report

Variant	rs73181916
Chromosome Location	chr12:104751021-104751022
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104749005..104751520-chr12:104753750..104756278,3	K562	blood:
2	chr12:104744585..104747269-chr12:104747658..104751523,4	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10735392	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10735393	0.85[EUR][1000 genomes]
rs10735395	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10745995	0.83[AMR][1000 genomes]
rs10745996	0.83[AMR][1000 genomes]
rs10861204	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11111919	1.00[AFR][1000 genomes]
rs11111943	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12426783	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17202862	1.00[AFR][1000 genomes]
rs3935020	1.00[AFR][1000 genomes]
rs3935021	0.88[EUR][1000 genomes]
rs4246264	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4246269	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4246270	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4246271	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4388968	0.82[AMR][1000 genomes]
rs4447242	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4502051	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4545635	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4630362	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4964227	1.00[AFR][1000 genomes]
rs4964228	1.00[AFR][1000 genomes]
rs4964257	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4964260	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4964288	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4964732	1.00[AFR][1000 genomes]
rs4964741	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4964752	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4964761	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4964779	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4964784	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58129714	0.96[ASN][1000 genomes]
rs6419386	0.82[AMR][1000 genomes]
rs6539131	1.00[AFR][1000 genomes]
rs6539137	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7138035	0.83[AMR][1000 genomes]
rs7138317	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7139336	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7294997	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7298613	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7299669	1.00[AFR][1000 genomes]
rs7303483	0.81[AMR][1000 genomes]
rs73177990	1.00[AFR][1000 genomes]
rs73181919	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73181926	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73181944	1.00[AFR][1000 genomes]
rs7962423	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7969351	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7969604	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9738614	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9739826	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9739833	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1048075	chr12:104694799-104751460	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv541588	chr12:104694799-104751460	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104721800-104760000	Weak transcription	Stomach Mucosa	stomach
2	chr12:104728800-104755000	Weak transcription	Fetal Heart	heart
3	chr12:104743600-104751200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:104744800-104752000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:104745000-104752200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:104745000-104761400	Weak transcription	Psoas Muscle	Psoas
7	chr12:104745400-104754000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:104745800-104754000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:104746000-104756800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:104746200-104751200	Weak transcription	Fetal Stomach	stomach
11	chr12:104746200-104751200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:104746200-104754600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:104746200-104754800	Weak transcription	Hela-S3	cervix
14	chr12:104746200-104761200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:104746200-104763000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:104746400-104752200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:104747600-104752400	Weak transcription	NHEK	skin
18	chr12:104747800-104751200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:104747800-104751400	Weak transcription	Primary B cells from cord blood	blood
20	chr12:104747800-104756000	Weak transcription	Aorta	Aorta
21	chr12:104748400-104751200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:104748400-104761000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:104748600-104751400	Weak transcription	NH-A	brain
24	chr12:104748600-104752800	Weak transcription	K562	blood
25	chr12:104749000-104751200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:104749000-104751400	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:104749000-104751400	Weak transcription	HMEC	breast
28	chr12:104749000-104753400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:104749000-104754000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:104749000-104754000	Weak transcription	Spleen	Spleen
31	chr12:104749000-104755000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:104749000-104758600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:104749000-104762800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:104749000-104763200	Weak transcription	Primary T cells from cord blood	blood
35	chr12:104749000-104765800	Weak transcription	Thymus	Thymus
36	chr12:104749200-104751400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:104749200-104751400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:104749200-104751600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:104749200-104751600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:104749200-104751800	Weak transcription	NHDF-Ad	bronchial
41	chr12:104749200-104755200	Weak transcription	Left Ventricle	heart
42	chr12:104749200-104755200	Weak transcription	Osteobl	bone
43	chr12:104749200-104763000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:104749200-104763400	Weak transcription	HUVEC	blood vessel
45	chr12:104749400-104751200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:104749400-104751200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr12:104749400-104752000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:104749600-104753000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:104749800-104751400	Enhancers	A549	lung
50	chr12:104749800-104769400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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