Variant report

Variant	rs34756961
Chromosome Location	chr12:63153038-63153039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13156621	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13156906	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13171723	0.83[ASN][1000 genomes]
rs34760171	0.83[ASN][1000 genomes]
rs35118298	0.83[ASN][1000 genomes]
rs36139242	0.83[ASN][1000 genomes]
rs4501337	0.83[ASN][1000 genomes]
rs55633021	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55635821	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55832007	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62385831	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs71589310	0.83[ASN][1000 genomes]
rs9687860	0.83[AMR][1000 genomes];0.88[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	esv1802580	chr12:63139188-63157591	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv559157	chr12:63142592-63163019	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv899160	chr12:63149213-63209623	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63096600-63157000	Weak transcription	Pancreas	Pancrea
2	chr12:63126200-63155600	Weak transcription	Aorta	Aorta
3	chr12:63130200-63153200	Weak transcription	Fetal Intestine Large	intestine
4	chr12:63134400-63160600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:63140000-63168600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:63143400-63153200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:63143800-63155600	Weak transcription	Psoas Muscle	Psoas
8	chr12:63145400-63160600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:63145800-63154000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:63145800-63154600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:63145800-63155400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:63145800-63160600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:63145800-63160800	Weak transcription	Brain Substantia Nigra	brain
14	chr12:63145800-63163400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:63145800-63169400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:63149000-63155600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:63149800-63154400	Weak transcription	Fetal Stomach	stomach
18	chr12:63149800-63158400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:63150000-63153400	Weak transcription	Fetal Intestine Small	intestine
20	chr12:63150000-63179800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:63150800-63154000	Weak transcription	Lung	lung
22	chr12:63150800-63155600	Weak transcription	Left Ventricle	heart
23	chr12:63151000-63155600	Weak transcription	Right Atrium	heart
24	chr12:63151000-63160600	Weak transcription	Brain Angular Gyrus	brain
25	chr12:63151400-63154200	Weak transcription	K562	blood
26	chr12:63151600-63154600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:63151800-63153600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:63152000-63153200	Enhancers	HepG2	liver
29	chr12:63152200-63153600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
30	chr12:63152200-63153600	Weak transcription	Gastric	stomach
31	chr12:63152200-63154200	Weak transcription	HSMMtube	muscle
32	chr12:63152200-63155800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr12:63152200-63160600	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:63152400-63153400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:63152400-63153600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:63152400-63154200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:63152400-63154200	Weak transcription	Fetal Kidney	kidney
38	chr12:63152400-63154200	Enhancers	A549	lung
39	chr12:63152400-63154600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:63152400-63156000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:63152400-63161200	Weak transcription	HUVEC	blood vessel
42	chr12:63152600-63153600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:63152600-63154000	Weak transcription	Osteobl	bone
44	chr12:63152600-63154600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr12:63152600-63154600	Weak transcription	NH-A	brain
46	chr12:63152600-63154600	Weak transcription	NHLF	lung
47	chr12:63153000-63153200	Enhancers	Stomach Mucosa	stomach
48	chr12:63153000-63153600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:63153000-63153800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:63153000-63154000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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