Variant report

Variant	rs73079962
Chromosome Location	chr12:30872178-30872179
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11608803	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613738	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17486840	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17560141	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687472	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687964	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17688437	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17688567	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17739338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2099029	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2882856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4459394	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931357	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931358	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931359	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55957969	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300410	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73077865	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077869	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077870	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077877	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077884	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077887	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077893	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079992	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73079995	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73079996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30849200-30881600	Weak transcription	Right Ventricle	heart
2	chr12:30849600-30881200	Weak transcription	Psoas Muscle	Psoas
3	chr12:30849600-30881600	Weak transcription	Aorta	Aorta
4	chr12:30857400-30881800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:30858000-30891800	Weak transcription	Fetal Heart	heart
6	chr12:30859200-30892200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:30859400-30883400	Weak transcription	Colonic Mucosa	Colon
8	chr12:30859800-30877000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:30860400-30881600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:30861000-30879000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:30861200-30875000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:30861400-30872600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:30861400-30881600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:30861400-30885000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:30861400-30906200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:30861400-30906600	Weak transcription	Small Intestine	intestine
17	chr12:30861800-30872600	Strong transcription	Fetal Brain Female	brain
18	chr12:30861800-30872800	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr12:30861800-30877800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:30861800-30879000	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr12:30861800-30884600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:30861800-30894600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:30861800-30895200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:30862000-30872200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:30862000-30872600	Strong transcription	Liver	Liver
26	chr12:30862000-30877800	Strong transcription	HMEC	breast
27	chr12:30862000-30878800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:30862000-30879000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:30862200-30872200	Strong transcription	Brain Anterior Caudate	brain
30	chr12:30862200-30879000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:30862200-30895000	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr12:30862400-30872400	Strong transcription	Primary T cells from cord blood	blood
33	chr12:30862400-30876600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:30862400-30895600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:30862600-30872400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:30862600-30872400	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr12:30862800-30872400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:30862800-30872400	Strong transcription	Left Ventricle	heart
39	chr12:30863400-30872200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:30863400-30872200	Weak transcription	Thymus	Thymus
41	chr12:30863400-30874000	Weak transcription	Fetal Stomach	stomach
42	chr12:30863400-30877200	Weak transcription	Pancreas	Pancrea
43	chr12:30863400-30877600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:30863400-30881600	Weak transcription	Gastric	stomach
45	chr12:30863400-30882800	Weak transcription	Brain Substantia Nigra	brain
46	chr12:30863400-30885200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:30863400-30891000	Weak transcription	GM12878-XiMat	blood
48	chr12:30863400-30906400	Weak transcription	Spleen	Spleen
49	chr12:30863400-30906600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:30864600-30905200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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