Variant report

Variant	rs7974834
Chromosome Location	chr12:50639782-50639783
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50633929..50638139-chr12:50638624..50643008,10	K562	blood:
2	chr12:50639732..50644182-chr12:50792343..50795361,4	K562	blood:
3	chr12:50639206..50641232-chr12:50793861..50796336,2	K562	blood:
4	chr12:50590965..50593256-chr12:50639470..50642013,2	K562	blood:
5	chr12:50639528..50641829-chr12:51035745..51038139,2	K562	blood:
6	chr12:50612347..50619665-chr12:50638648..50642431,12	K562	blood:
7	chr12:50612347..50617844-chr12:50638648..50642831,7	K562	blood:
8	chr12:50619714..50622106-chr12:50639705..50642592,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000050405	Chromatin interaction
ENSG00000161813	Chromatin interaction
ENSG00000257256	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10450773	0.82[EUR][1000 genomes]
rs10747572	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10783346	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10783347	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12423130	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28364704	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3815671	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61928280	0.87[EUR][1000 genomes]
rs7302422	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs736167	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8181651	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
4	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
5	nsv1035796	chr12:50634342-50784312	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50616800-50641600	Weak transcription	Brain Angular Gyrus	brain
2	chr12:50616800-50651800	Weak transcription	Brain Anterior Caudate	brain
3	chr12:50618600-50640000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:50627600-50644600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr12:50628800-50640800	Weak transcription	Esophagus	oesophagus
6	chr12:50633200-50651200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:50633600-50643400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:50634000-50640200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:50634200-50641000	Weak transcription	Lung	lung
10	chr12:50634200-50643400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:50634600-50648200	Weak transcription	Spleen	Spleen
12	chr12:50634800-50640400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:50635600-50640000	Weak transcription	Psoas Muscle	Psoas
14	chr12:50635600-50640200	Weak transcription	Liver	Liver
15	chr12:50635600-50642400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:50635600-50646600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:50636000-50643000	Genic enhancers	Fetal Intestine Large	intestine
18	chr12:50636200-50651200	Weak transcription	Fetal Kidney	kidney
19	chr12:50636400-50640800	Weak transcription	Pancreas	Pancrea
20	chr12:50636400-50641200	Weak transcription	Right Ventricle	heart
21	chr12:50636600-50640400	Weak transcription	Fetal Thymus	thymus
22	chr12:50636600-50640400	Weak transcription	Right Atrium	heart
23	chr12:50636600-50640800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:50636600-50640800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr12:50636600-50642400	Weak transcription	Ovary	ovary
26	chr12:50636600-50651400	Weak transcription	Gastric	stomach
27	chr12:50636600-50651800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr12:50636800-50640400	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:50636800-50641200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr12:50636800-50642000	Weak transcription	Small Intestine	intestine
31	chr12:50636800-50648200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:50637200-50640000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:50637200-50640200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:50637200-50640800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:50637200-50641400	Enhancers	Placenta Amnion	Placenta Amnion
36	chr12:50637200-50641600	Enhancers	NHDF-Ad	bronchial
37	chr12:50637200-50645600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:50637200-50648200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:50637400-50640200	Weak transcription	Aorta	Aorta
40	chr12:50637400-50640400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:50637400-50643400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:50637600-50640000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:50637600-50640000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:50637600-50640000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr12:50637600-50640200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:50637600-50640200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:50637600-50640200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr12:50637600-50640200	Weak transcription	A549	lung
49	chr12:50637600-50640200	Weak transcription	NH-A	brain
50	chr12:50638200-50639800	Strong transcription	Rectal Mucosa Donor 31	rectum

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