Variant report

Variant	rs571672868
Chromosome Location	chr7:127776240-127776241
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127775426..127776276-chr7:127848207..127849130,6	MCF-7	breast:
2	chr7:127675627..127676293-chr7:127775515..127776488,2	MCF-7	breast:
3	chr7:127770664..127774572-chr7:127774612..127778986,4	K562	blood:
4	chr7:127775242..127776690-chr7:127849539..127850451,13	K562	blood:
5	chr7:127775454..127776695-chr7:127847926..127849197,18	MCF-7	breast:
6	chr7:127775670..127776293-chr7:127847687..127848630,2	K562	blood:
7	chr7:127775629..127777562-chr7:127847751..127849671,2	MCF-7	breast:
8	chr7:127775450..127776513-chr7:127849436..127850519,6	MCF-7	breast:
9	chr7:127290259..127292033-chr7:127774841..127777045,2	K562	blood:
10	chr7:127224953..127226743-chr7:127774765..127776324,2	K562	blood:
11	chr7:127774436..127777299-chr7:127779150..127782660,3	K562	blood:
12	chr7:127770457..127772622-chr7:127774413..127777391,3	MCF-7	breast:
13	chr7:127775194..127776324-chr7:127839452..127840478,4	MCF-7	breast:
14	chr7:127775486..127776605-chr7:127849515..127850418,16	MCF-7	breast:
15	chr7:127775768..127776602-chr7:127839565..127840318,2	MCF-7	breast:
16	chr7:127775695..127776672-chr7:127838301..127838940,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000179562	Chromatin interaction
ENSG00000207705	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv3377887	chr7:127776026-127776644	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127774600-127776600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:127774600-127776800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr7:127774800-127776600	Bivalent Enhancer	Fetal Heart	heart
4	chr7:127774800-127776800	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chr7:127775200-127776600	Flanking Active TSS	Brain Anterior Caudate	brain
6	chr7:127775200-127776800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr7:127775200-127776800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr7:127775200-127776800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:127775400-127776400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr7:127775400-127776600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:127775400-127776600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
12	chr7:127775400-127776600	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr7:127775400-127776600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
14	chr7:127775400-127776800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr7:127775400-127776800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:127775600-127776400	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr7:127775600-127776400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr7:127775600-127776400	Active TSS	Aorta	Aorta
19	chr7:127775600-127776400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
20	chr7:127775600-127776400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
21	chr7:127775600-127776600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:127775600-127776600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:127775600-127776600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr7:127775600-127776600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
25	chr7:127775600-127776600	Enhancers	Lung	lung
26	chr7:127775600-127776600	Bivalent/Poised TSS	A549	lung
27	chr7:127775600-127776600	Flanking Bivalent TSS/Enh	Dnd41	blood
28	chr7:127775600-127776600	Bivalent/Poised TSS	HSMMtube	muscle
29	chr7:127775600-127776800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:127775600-127776800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr7:127775600-127776800	Active TSS	Brain Angular Gyrus	brain
32	chr7:127775800-127776400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
33	chr7:127775800-127776400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:127775800-127776400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:127775800-127776400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr7:127775800-127776400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:127775800-127776400	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr7:127775800-127776400	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr7:127775800-127776400	Bivalent/Poised TSS	Left Ventricle	heart
40	chr7:127775800-127776400	Active TSS	Right Ventricle	heart
41	chr7:127775800-127776400	Bivalent/Poised TSS	NHLF	lung
42	chr7:127775800-127776600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:127775800-127776600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:127775800-127776600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:127775800-127776600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:127775800-127776600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
47	chr7:127775800-127776600	Active TSS	Ovary	ovary
48	chr7:127775800-127776600	Bivalent/Poised TSS	Psoas Muscle	Psoas
49	chr7:127775800-127776600	Bivalent/Poised TSS	GM12878-XiMat	blood
50	chr7:127775800-127776600	Active TSS	HSMM	muscle

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