Variant report

Variant	rs552935360
Chromosome Location	chr7:66385212-66385213
allele	G/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	GATA1	chr7:66383991-66385229	PBDE	blood:	n/a	n/a
2	POLR2A	chr7:66385192-66385216	HepG2	liver:	n/a	n/a
3	MXI1	chr7:66384825-66387700	SK-N-SH	brain:	n/a	n/a
4	STAT5A	chr7:66385100-66385604	GM12878	blood:	n/a	n/a
5	ZNF274	chr7:66385133-66385787	K562	blood:	n/a	n/a
6	STAT5A	chr7:66384847-66386322	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:66385181-66385554	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT5A	chr7:66384243-66386386	K562	blood:	n/a	chr7:66384567-66384574
9	GATA1	chr7:66384198-66385265	K562	blood:	n/a	n/a
10	MYC	chr7:66385002-66386297	MCF10A-Er-Src	breast:	n/a	n/a
11	IRF1	chr7:66384370-66386341	K562	blood:	n/a	chr7:66384591-66384600 chr7:66385626-66385637 chr7:66385627-66385637
12	NR2F2	chr7:66385055-66386400	K562	blood:	n/a	chr7:66386156-66386171

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	chr7:66385188..66388317-chr7:66459133..66463010,3	K562	blood:
7	chr7:66384799..66388848-chr7:66389441..66396879,12	K562	blood:
8	chr7:66385080..66386736-chr7:66393610..66396808,3	MCF-7	breast:
9	chr1:228353195..228353730-chr7:66385183..66386076,2	NB4	blood:

Variant related genes	Relation type
TMEM248	TF binding region
ENSG00000230583	Chromatin interaction
ENSG00000198874	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000106609	Chromatin interaction
ENSG00000203684	Chromatin interaction
ENSG00000126524	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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66364400-66385400	Weak transcription	HSMMtube	muscle
2	chr7:66366400-66385600	Weak transcription	Brain Substantia Nigra	brain
3	chr7:66368000-66385400	Weak transcription	Adipose Nuclei	Adipose
4	chr7:66369000-66385400	Weak transcription	Thymus	Thymus
5	chr7:66369000-66385600	Weak transcription	Ovary	ovary
6	chr7:66370200-66385400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:66371200-66385400	Weak transcription	Fetal Intestine Small	intestine
8	chr7:66371200-66385600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:66371800-66385400	Weak transcription	Fetal Stomach	stomach
10	chr7:66383000-66385400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:66383000-66385400	Weak transcription	Osteobl	bone
12	chr7:66383400-66385400	Weak transcription	Liver	Liver
13	chr7:66384800-66385600	Flanking Active TSS	Dnd41	blood
14	chr7:66384800-66387400	Active TSS	NHDF-Ad	bronchial
15	chr7:66385000-66385400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr7:66385000-66385400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr7:66385000-66385400	Enhancers	Colon Smooth Muscle	Colon
18	chr7:66385000-66385400	Enhancers	HepG2	liver
19	chr7:66385000-66385400	Transcr. at gene 5' and 3'	K562	blood
20	chr7:66385000-66385600	Enhancers	Brain Anterior Caudate	brain
21	chr7:66385000-66385600	Enhancers	Brain Hippocampus Middle	brain
22	chr7:66385000-66387000	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr7:66385000-66387200	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr7:66385000-66388000	Active TSS	A549	lung
25	chr7:66385200-66385400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:66385200-66385400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:66385200-66385400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr7:66385200-66385400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:66385200-66385400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:66385200-66385400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:66385200-66385400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:66385200-66385400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:66385200-66385400	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr7:66385200-66385400	Enhancers	Brain Cingulate Gyrus	brain
35	chr7:66385200-66385400	Active TSS	Duodenum Mucosa	Duodenum
36	chr7:66385200-66385400	Flanking Active TSS	Fetal Brain Male	brain
37	chr7:66385200-66385400	Enhancers	Fetal Heart	heart
38	chr7:66385200-66385400	Enhancers	Fetal Intestine Large	intestine
39	chr7:66385200-66385400	Enhancers	Fetal Lung	lung
40	chr7:66385200-66385400	Enhancers	Fetal Muscle Leg	muscle
41	chr7:66385200-66385400	Enhancers	Psoas Muscle	Psoas
42	chr7:66385200-66385400	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr7:66385200-66385400	Enhancers	Spleen	Spleen
44	chr7:66385200-66385400	Flanking Active TSS	NHLF	lung
45	chr7:66385200-66385600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr7:66385200-66385600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:66385200-66385600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr7:66385200-66385600	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr7:66385200-66385600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:66385200-66385600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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