Variant report

Variant	rs1179447
Chromosome Location	chr12:120798460-120798461
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	chr12:120796844..120799038-chr12:120810328..120813184,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1076206	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1179430	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1179433	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1179434	0.83[ASN][1000 genomes]
rs1179436	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1179437	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1179438	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1179440	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1179441	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1179442	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1179443	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1179445	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1179446	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1179449	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1183783	0.85[ASN][1000 genomes]
rs1184532	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1306624	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs206948	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs206949	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs206952	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2261612	0.87[EUR][1000 genomes]
rs2283367	0.97[ASN][1000 genomes]
rs2285679	0.97[ASN][1000 genomes]
rs2522131	0.87[EUR][1000 genomes]
rs2522133	0.88[EUR][1000 genomes]
rs2522134	0.89[EUR][1000 genomes]
rs2951690	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3782901	0.97[ASN][1000 genomes]
rs735382	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7484571	0.83[ASN][1000 genomes]
rs757122	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs916842	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120764000-120799200	Weak transcription	Right Atrium	heart
2	chr12:120779600-120799000	Weak transcription	Fetal Heart	heart
3	chr12:120779800-120798800	Strong transcription	Fetal Intestine Small	intestine
4	chr12:120780800-120803200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:120783800-120799000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:120784800-120800400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:120789400-120799000	Weak transcription	Pancreas	Pancrea
8	chr12:120789400-120799000	Weak transcription	Stomach Mucosa	stomach
9	chr12:120789400-120799200	Weak transcription	Right Ventricle	heart
10	chr12:120789400-120802000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:120794200-120799000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:120794600-120799000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:120794600-120799800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:120794800-120798800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:120794800-120799000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:120794800-120799000	Weak transcription	Brain Angular Gyrus	brain
17	chr12:120794800-120799000	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:120794800-120799000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:120794800-120799200	Weak transcription	Left Ventricle	heart
20	chr12:120794800-120799400	Weak transcription	Esophagus	oesophagus
21	chr12:120794800-120799800	Weak transcription	Brain Substantia Nigra	brain
22	chr12:120794800-120800200	Weak transcription	Gastric	stomach
23	chr12:120795000-120799000	Weak transcription	Osteobl	bone
24	chr12:120795200-120798600	Weak transcription	Brain Anterior Caudate	brain
25	chr12:120795200-120799000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:120795200-120799000	Weak transcription	NH-A	brain
27	chr12:120795400-120798800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:120795800-120798800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:120795800-120804200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:120796000-120798800	Genic enhancers	H1 Cell Line	embryonic stem cell
31	chr12:120796000-120799000	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:120796200-120798800	Weak transcription	Fetal Lung	lung
33	chr12:120796200-120800000	Weak transcription	Fetal Kidney	kidney
34	chr12:120796200-120805000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:120796600-120798800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:120796800-120799000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr12:120796800-120799200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
38	chr12:120797000-120799000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr12:120797000-120799000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:120797000-120799000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr12:120797200-120798600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr12:120797200-120798800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:120797400-120798600	Weak transcription	Fetal Brain Female	brain
44	chr12:120797400-120798800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:120797400-120799000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:120797400-120799000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:120797400-120799600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr12:120797600-120798600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr12:120797600-120798800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:120797600-120798800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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