Variant report

Variant	rs373066150
Chromosome Location	chr7:66385177-66385178
allele	C/G
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	GATA1	chr7:66383991-66385229	PBDE	blood:	n/a	n/a
2	MXI1	chr7:66384825-66387700	SK-N-SH	brain:	n/a	n/a
3	STAT5A	chr7:66385100-66385604	GM12878	blood:	n/a	n/a
4	ZNF274	chr7:66385133-66385787	K562	blood:	n/a	n/a
5	STAT5A	chr7:66384847-66386322	GM12878	blood:	n/a	n/a
6	STAT5A	chr7:66384243-66386386	K562	blood:	n/a	chr7:66384567-66384574
7	GATA1	chr7:66384198-66385265	K562	blood:	n/a	n/a
8	MYC	chr7:66385002-66386297	MCF10A-Er-Src	breast:	n/a	n/a
9	IRF1	chr7:66384370-66386341	K562	blood:	n/a	chr7:66384591-66384600 chr7:66385626-66385637 chr7:66385627-66385637
10	NR2F2	chr7:66385055-66386400	K562	blood:	n/a	chr7:66386156-66386171
11	POLR2A	chr7:66385062-66385203	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:66308191..66311276-chr7:66384066..66387492,7	MCF-7	breast:
2	chr7:66385169..66388074-chr7:66392898..66397062,6	MCF-7	breast:
3	chr7:66384595..66388317-chr7:66459135..66463010,5	K562	blood:
4	chr7:66378566..66381625-chr7:66385153..66387745,3	MCF-7	breast:
5	chr7:66379191..66382749-chr7:66384574..66388642,5	K562	blood:
6	chr7:66384799..66388848-chr7:66389441..66396879,12	K562	blood:
7	chr7:66385080..66386736-chr7:66393610..66396808,3	MCF-7	breast:

Variant related genes	Relation type
TMEM248	TF binding region
ENSG00000126524	Chromatin interaction
ENSG00000106609	Chromatin interaction
ENSG00000230583	Chromatin interaction
ENSG00000198874	Chromatin interaction
ENSG00000179131	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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	esv3324611	chr7:66383817-66388015	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66311000-66385200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:66311200-66385200	Weak transcription	Brain Angular Gyrus	brain
3	chr7:66350600-66385200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:66364400-66385400	Weak transcription	HSMMtube	muscle
5	chr7:66366400-66385600	Weak transcription	Brain Substantia Nigra	brain
6	chr7:66368000-66385400	Weak transcription	Adipose Nuclei	Adipose
7	chr7:66369000-66385400	Weak transcription	Thymus	Thymus
8	chr7:66369000-66385600	Weak transcription	Ovary	ovary
9	chr7:66370000-66385200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:66370200-66385400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr7:66371000-66385200	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:66371200-66385400	Weak transcription	Fetal Intestine Small	intestine
13	chr7:66371200-66385600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:66371800-66385400	Weak transcription	Fetal Stomach	stomach
15	chr7:66379000-66385200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:66383000-66385200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:66383000-66385200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr7:66383000-66385400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:66383000-66385400	Weak transcription	Osteobl	bone
20	chr7:66383200-66385200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr7:66383400-66385200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:66383400-66385200	Weak transcription	Psoas Muscle	Psoas
23	chr7:66383400-66385400	Weak transcription	Liver	Liver
24	chr7:66384800-66385600	Flanking Active TSS	Dnd41	blood
25	chr7:66384800-66387400	Active TSS	NHDF-Ad	bronchial
26	chr7:66385000-66385200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr7:66385000-66385200	Active TSS	GM12878-XiMat	blood
28	chr7:66385000-66385200	Enhancers	Hela-S3	cervix
29	chr7:66385000-66385200	Enhancers	NHEK	skin
30	chr7:66385000-66385200	Enhancers	NHLF	lung
31	chr7:66385000-66385400	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr7:66385000-66385400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr7:66385000-66385400	Enhancers	Colon Smooth Muscle	Colon
34	chr7:66385000-66385400	Enhancers	HepG2	liver
35	chr7:66385000-66385400	Transcr. at gene 5' and 3'	K562	blood
36	chr7:66385000-66385600	Enhancers	Brain Anterior Caudate	brain
37	chr7:66385000-66385600	Enhancers	Brain Hippocampus Middle	brain
38	chr7:66385000-66387000	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr7:66385000-66387200	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr7:66385000-66388000	Active TSS	A549	lung

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