Variant report

Variant	rs10783334
Chromosome Location	chr12:50506813-50506814
allele	G/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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50506553..50508392-chr12:50677270..50679374,2	K562	blood:
2	chr12:50504921..50507290-chr12:50793420..50795913,2	K562	blood:
3	chr12:50504614..50508392-chr12:50676689..50680044,5	K562	blood:
4	chr12:50452237..50453974-chr12:50505551..50507211,2	K562	blood:
5	chr12:50475972..50484033-chr12:50500850..50507517,14	K562	blood:
6	chr11:73587497..73588474-chr12:50506081..50507024,2	Hela-S3	cervix:
7	chr12:50504921..50507362-chr12:50794413..50796105,2	K562	blood:
8	chr12:50478595..50483647-chr12:50502911..50507517,7	K562	blood:
9	chr12:50505997..50506931-chrX:122993268..122993947,2	Hela-S3	cervix:
10	chr12:50506326..50509315-chr12:50512899..50514726,2	K562	blood:
11	chr12:50504763..50507079-chr12:50528230..50529820,2	MCF-7	breast:
12	chr12:50504059..50507401-chr12:50559290..50562708,7	K562	blood:
13	chr12:50505504..50507655-chr12:50614479..50616710,2	MCF-7	breast:
14	chr12:50503326..50508590-chr12:50559314..50563839,9	MCF-7	breast:
15	chr12:50471491..50474468-chr12:50505629..50507284,2	K562	blood:
16	chr12:50506379..50508104-chr12:50510403..50512251,3	K562	blood:
17	chr12:50503967..50508677-chr12:50559559..50562905,8	MCF-7	breast:
18	chr12:50499334..50507442-chr12:50559441..50562987,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000066117	Chromatin interaction
ENSG00000161813	Chromatin interaction
ENSG00000203433	Chromatin interaction
ENSG00000175575	Chromatin interaction
ENSG00000139624	Chromatin interaction
ENSG00000181924	Chromatin interaction
ENSG00000110881	Chromatin interaction
ENSG00000050405	Chromatin interaction
ENSG00000101966	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10735822	0.86[EUR][1000 genomes]
rs10735823	0.87[EUR][1000 genomes]
rs10747571	0.81[EUR][1000 genomes]
rs10875999	0.87[EUR][1000 genomes]
rs10876001	0.81[EUR][1000 genomes]
rs10876002	0.81[EUR][1000 genomes]
rs12229758	0.87[EUR][1000 genomes]
rs17124448	0.87[EUR][1000 genomes]
rs2242507	0.81[EUR][1000 genomes]
rs55639096	0.87[EUR][1000 genomes]
rs56151073	0.87[EUR][1000 genomes]
rs7131794	0.81[EUR][1000 genomes]
rs7306213	0.83[EUR][1000 genomes]
rs7314598	0.81[EUR][1000 genomes]
rs7316344	0.81[EUR][1000 genomes]
rs7953174	0.87[EUR][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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv558840	chr12:50449976-50523964	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50505000-50507000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr12:50505000-50507000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr12:50505000-50507200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr12:50505200-50507000	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr12:50505200-50507000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr12:50505200-50507000	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr12:50505200-50507000	Active TSS	Brain Angular Gyrus	brain
8	chr12:50505200-50507000	Active TSS	Fetal Kidney	kidney
9	chr12:50505200-50507000	Active TSS	Placenta Amnion	Placenta Amnion
10	chr12:50505200-50507200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr12:50505200-50507200	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr12:50505200-50507200	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr12:50505200-50507200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:50505200-50507200	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr12:50505200-50507200	Active TSS	HSMM	muscle
16	chr12:50505200-50507400	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr12:50505200-50507400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:50505200-50507400	Active TSS	Brain Anterior Caudate	brain
19	chr12:50505200-50507600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:50505200-50507600	Active TSS	K562	blood
21	chr12:50505200-50507800	Active TSS	GM12878-XiMat	blood
22	chr12:50505400-50507000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:50505400-50507000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:50505400-50507000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:50505400-50507000	Active TSS	Primary T cells from cord blood	blood
26	chr12:50505400-50507000	Active TSS	Brain Substantia Nigra	brain
27	chr12:50505400-50507000	Active TSS	Esophagus	oesophagus
28	chr12:50505400-50507000	Active TSS	Right Ventricle	heart
29	chr12:50505400-50507000	Active TSS	NH-A	brain
30	chr12:50505400-50507200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:50505400-50507200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:50505400-50507200	Active TSS	A549	lung
33	chr12:50505400-50507200	Active TSS	HMEC	breast
34	chr12:50505400-50507200	Active TSS	NHDF-Ad	bronchial
35	chr12:50505400-50507600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:50505400-50507600	Active TSS	Hela-S3	cervix
37	chr12:50505600-50507000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:50505600-50507200	Active TSS	Muscle Satellite Cultured Cells	--
39	chr12:50505600-50507200	Active TSS	Fetal Intestine Large	intestine
40	chr12:50505600-50507600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:50505800-50507000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr12:50505800-50507000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:50505800-50507000	Active TSS	Gastric	stomach
44	chr12:50505800-50507000	Active TSS	Lung	lung
45	chr12:50505800-50507000	Active TSS	Ovary	ovary
46	chr12:50505800-50507000	Active TSS	Pancreas	Pancrea
47	chr12:50505800-50507000	Active TSS	Psoas Muscle	Psoas
48	chr12:50505800-50507000	Active TSS	Stomach Mucosa	stomach
49	chr12:50505800-50507000	Active TSS	HSMMtube	muscle
50	chr12:50505800-50507200	Active TSS	Pancreatic Islets	Pancreatic Islet

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