Variant report

Variant	rs73077877
Chromosome Location	chr12:30815503-30815504
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	chr12:30814366..30817094-chr12:30823251..30825006,2	K562	blood:
2	chr12:30814175..30817421-chr12:30818477..30821058,3	K562	blood:

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];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613738	0.93[AMR][1000 genomes]
rs11614046	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17486840	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17560141	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687472	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	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[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];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931359	0.96[AMR][1000 genomes];0.91[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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300410	1.00[ASN][1000 genomes]
rs73077865	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077884	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077887	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077893	1.00[AMR][1000 genomes];0.96[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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30767000-30844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:30779800-30825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:30780800-30847000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:30781800-30826400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:30782400-30821200	Weak transcription	Esophagus	oesophagus
6	chr12:30783800-30827400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:30783800-30829000	Weak transcription	Small Intestine	intestine
8	chr12:30784000-30815800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:30784800-30836600	Weak transcription	Fetal Heart	heart
10	chr12:30785000-30847800	Weak transcription	Gastric	stomach
11	chr12:30785200-30846400	Weak transcription	Spleen	Spleen
12	chr12:30785400-30847200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:30786000-30826600	Weak transcription	Colonic Mucosa	Colon
14	chr12:30787200-30821200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:30788000-30821000	Weak transcription	Stomach Mucosa	stomach
16	chr12:30791200-30815600	Weak transcription	Fetal Brain Female	brain
17	chr12:30791200-30825200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:30793600-30825200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:30796800-30816000	Weak transcription	NHLF	lung
20	chr12:30801400-30815600	Weak transcription	Brain Germinal Matrix	brain
21	chr12:30807800-30835200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:30808000-30837800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:30808400-30816400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:30808400-30816800	Strong transcription	Fetal Thymus	thymus
25	chr12:30808400-30829800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr12:30808600-30820200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:30808600-30830400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr12:30808600-30839200	Strong transcription	Liver	Liver
29	chr12:30808800-30816600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:30808800-30835000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr12:30808800-30838000	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:30809200-30828800	Weak transcription	Pancreas	Pancrea
33	chr12:30809400-30820800	Weak transcription	Lung	lung
34	chr12:30809800-30818800	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:30810000-30838200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:30810200-30816200	Strong transcription	Brain Hippocampus Middle	brain
37	chr12:30810400-30821200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr12:30810800-30843200	Strong transcription	Dnd41	blood
39	chr12:30810800-30843800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr12:30811000-30844200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:30811200-30830200	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr12:30811400-30818200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:30811400-30821000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr12:30812000-30816400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:30812000-30816600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr12:30812000-30816600	Strong transcription	Fetal Muscle Leg	muscle
47	chr12:30812000-30816800	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr12:30812200-30816400	Strong transcription	Brain Anterior Caudate	brain
49	chr12:30812200-30816600	Strong transcription	Left Ventricle	heart
50	chr12:30812200-30816800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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