Variant report

Variant	rs73077865
Chromosome Location	chr12:30779344-30779345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30776811..30779665-chr12:30781833..30784951,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11608803	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614046	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17486840	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17560141	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687472	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687791	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687846	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687964	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17688437	1.00[ASN][1000 genomes]
rs17688567	0.81[AMR][1000 genomes]
rs17739338	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2099029	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2882856	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850959	0.90[AMR][1000 genomes]
rs4459394	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930937	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931357	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931358	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931359	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931363	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55957969	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300410	1.00[ASN][1000 genomes]
rs73077869	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077870	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077877	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077884	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077887	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077893	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079959	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079962	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079965	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079966	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079970	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079971	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079992	1.00[ASN][1000 genomes]
rs73079995	1.00[ASN][1000 genomes]
rs73079996	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][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	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

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30767000-30780800	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:30767000-30784800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:30767000-30785600	Weak transcription	Pancreas	Pancrea
4	chr12:30767000-30844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:30767600-30780800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:30767600-30780800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:30770600-30783400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:30770800-30783200	Weak transcription	Fetal Stomach	stomach
9	chr12:30771000-30781600	Weak transcription	Fetal Brain Female	brain
10	chr12:30771000-30812200	Weak transcription	Aorta	Aorta
11	chr12:30771200-30804200	Weak transcription	Fetal Brain Male	brain
12	chr12:30771400-30781200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:30771400-30783000	Weak transcription	Brain Germinal Matrix	brain
14	chr12:30771400-30783000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:30771400-30783000	Weak transcription	HSMMtube	muscle
16	chr12:30772800-30783400	Weak transcription	A549	lung
17	chr12:30774000-30780800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:30774200-30781200	Weak transcription	Brain Substantia Nigra	brain
19	chr12:30774400-30780800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:30774600-30812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:30775000-30781200	Weak transcription	Primary B cells from cord blood	blood
22	chr12:30775000-30781200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:30775000-30781600	Weak transcription	HUVEC	blood vessel
24	chr12:30775200-30780600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:30775200-30783400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:30775400-30781200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr12:30775600-30780800	Weak transcription	Esophagus	oesophagus
28	chr12:30775600-30780800	Weak transcription	Osteobl	bone
29	chr12:30775600-30781200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:30775600-30781200	Weak transcription	NHLF	lung
31	chr12:30775600-30781400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:30775600-30781600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:30775600-30815400	Weak transcription	Right Ventricle	heart
34	chr12:30775800-30779400	Weak transcription	HepG2	liver
35	chr12:30775800-30780600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:30775800-30781200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:30775800-30781200	Weak transcription	Adipose Nuclei	Adipose
38	chr12:30775800-30783000	Weak transcription	HSMM	muscle
39	chr12:30775800-30784800	Weak transcription	GM12878-XiMat	blood
40	chr12:30775800-30813200	Weak transcription	HMEC	breast
41	chr12:30775800-30815200	Weak transcription	NHEK	skin
42	chr12:30776000-30780600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:30776000-30780800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:30776000-30780800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:30776000-30781200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:30776000-30782800	Weak transcription	NHDF-Ad	bronchial
47	chr12:30776000-30783600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:30776000-30808400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr12:30776200-30781000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:30776200-30783600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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