Variant report

Variant	rs73077893
Chromosome Location	chr12:30846707-30846708
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:30840558..30845484-chr12:30846630..30850252,8	K562	blood:
2	chr12:30840520..30843164-chr12:30846192..30848468,2	MCF-7	breast:
3	chr12:30845389..30848478-chr12:30907681..30910609,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSPAN11-10	chr12:30845902-30846912	ucscGeneNc_uc001rjo_1

Variant related genes	Relation type
ENSG00000246331	Chromatin interaction
ENSG00000110888	Chromatin interaction
ENSG00000133704	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11608803	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613738	0.93[AMR][1000 genomes]
rs11614046	0.82[AMR][1000 genomes]
rs17486840	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17560141	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687472	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687791	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687846	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687964	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17688437	1.00[ASN][1000 genomes]
rs17688567	0.96[AMR][1000 genomes]
rs17739338	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2099029	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2882856	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4459394	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930937	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931357	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931358	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931359	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931363	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55957969	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300410	1.00[ASN][1000 genomes]
rs73077865	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077869	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077870	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077877	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077887	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079959	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079962	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079965	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079966	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079970	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079971	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079992	1.00[ASN][1000 genomes]
rs73079995	1.00[ASN][1000 genomes]
rs73079996	0.96[AMR][1000 genomes];0.92[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30780800-30847000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:30785000-30847800	Weak transcription	Gastric	stomach
3	chr12:30785400-30847200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:30821800-30847200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:30821800-30847400	Weak transcription	Lung	lung
6	chr12:30822600-30847400	Weak transcription	Aorta	Aorta
7	chr12:30827000-30847000	Weak transcription	Colonic Mucosa	Colon
8	chr12:30831800-30846800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:30832200-30846800	Weak transcription	Fetal Stomach	stomach
10	chr12:30833600-30847000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:30834800-30847000	Weak transcription	Stomach Mucosa	stomach
12	chr12:30837400-30847000	Weak transcription	Fetal Thymus	thymus
13	chr12:30837600-30847000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:30838400-30847400	Weak transcription	Placenta	Placenta
15	chr12:30838600-30847400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:30839600-30846800	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:30839600-30847000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:30840800-30847000	Weak transcription	Primary B cells from cord blood	blood
19	chr12:30843200-30846800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:30844000-30847000	Enhancers	NHEK	skin
21	chr12:30844200-30846800	Enhancers	Hela-S3	cervix
22	chr12:30844200-30847400	Enhancers	HUVEC	blood vessel
23	chr12:30844400-30846800	Enhancers	HepG2	liver
24	chr12:30844600-30846800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:30844600-30846800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:30844600-30846800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:30844600-30846800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:30844600-30846800	Weak transcription	NHLF	lung
29	chr12:30844600-30847000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:30844600-30847000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:30844600-30847000	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr12:30844600-30847000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:30844600-30847000	Weak transcription	Right Atrium	heart
34	chr12:30844600-30847000	Weak transcription	NH-A	brain
35	chr12:30844600-30847200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:30844600-30847200	Weak transcription	HSMMtube	muscle
37	chr12:30844600-30847400	Weak transcription	Left Ventricle	heart
38	chr12:30844600-30847600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:30844600-30847800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:30844600-30847800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:30844600-30847800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:30844800-30847400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:30844800-30847400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:30845200-30846800	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr12:30845200-30847400	Enhancers	Primary hematopoietic stem cells	blood
46	chr12:30845200-30847400	Enhancers	Osteobl	bone
47	chr12:30845200-30847600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:30845200-30847800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:30845400-30847000	Enhancers	Liver	Liver
50	chr12:30845400-30847200	Enhancers	Primary T helper cells fromperipheralblood	blood

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