Variant report

Variant	rs12112744
Chromosome Location	chr7:50818699-50818700
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:50818470-50818855	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50818546..50820290-chr7:50823084..50824619,2	K562	blood:
2	chr7:50810024..50811550-chr7:50818436..50820426,2	MCF-7	breast:

Variant related genes	Relation type
GRB10	TF binding region
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs55688337	1.00[AMR][1000 genomes]
rs6969838	1.00[AMR][1000 genomes]
rs73697738	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50798600-50822600	Weak transcription	Ovary	ovary
2	chr7:50798800-50824800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:50798800-50832400	Weak transcription	HSMM	muscle
4	chr7:50798800-50837200	Weak transcription	HSMMtube	muscle
5	chr7:50799000-50823000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:50802600-50824000	Weak transcription	NH-A	brain
7	chr7:50807600-50821800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:50807800-50821800	Weak transcription	Esophagus	oesophagus
9	chr7:50807800-50834800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:50808000-50821200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr7:50808000-50821600	Weak transcription	Gastric	stomach
12	chr7:50808000-50827200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:50808000-50829400	Weak transcription	Small Intestine	intestine
14	chr7:50808000-50832400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:50808000-50835800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:50808200-50818800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:50808200-50834200	Weak transcription	Brain Angular Gyrus	brain
18	chr7:50808600-50818800	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:50809000-50821400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:50809400-50822200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:50810800-50821200	Weak transcription	Primary T cells from cord blood	blood
22	chr7:50810800-50829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:50810800-50829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:50811000-50818800	Weak transcription	Brain Substantia Nigra	brain
25	chr7:50811000-50829400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:50811400-50818800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:50811400-50821600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:50811600-50821000	Weak transcription	Fetal Intestine Large	intestine
29	chr7:50811800-50820600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:50812200-50822600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr7:50812600-50828200	Weak transcription	K562	blood
32	chr7:50812600-50829400	Weak transcription	NHDF-Ad	bronchial
33	chr7:50812800-50821200	Weak transcription	Osteobl	bone
34	chr7:50813800-50824600	Weak transcription	Fetal Muscle Leg	muscle
35	chr7:50814400-50824600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:50814400-50838800	Weak transcription	Adipose Nuclei	Adipose
37	chr7:50814800-50828400	Weak transcription	Fetal Brain Male	brain
38	chr7:50815000-50822400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr7:50815000-50834400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr7:50815400-50818800	Strong transcription	Liver	Liver
41	chr7:50815600-50821200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:50815800-50819600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr7:50815800-50820200	Weak transcription	Spleen	Spleen
44	chr7:50815800-50821200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:50816000-50822400	Weak transcription	Brain Germinal Matrix	brain
46	chr7:50816000-50824800	Weak transcription	NHLF	lung
47	chr7:50816000-50825600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr7:50816000-50834200	Weak transcription	A549	lung
49	chr7:50816200-50818800	Weak transcription	Brain Anterior Caudate	brain
50	chr7:50816200-50819600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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