Variant report

Variant	rs543211365
Chromosome Location	chr7:27783771-27783772
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:27699948..27706867-chr7:27775418..27784557,21	K562	blood:
2	chr7:27702844..27705316-chr7:27782990..27784557,2	K562	blood:
3	chr7:27777088..27781357-chr7:27783261..27787943,9	MCF-7	breast:
4	chr7:27783237..27786573-chr7:27802443..27806955,4	K562	blood:
5	chr7:27777249..27781364-chr7:27781538..27788730,11	MCF-7	breast:
6	chr7:27783427..27786063-chr7:27789814..27792025,2	MCF-7	breast:
7	chr7:27782398..27784453-chr7:27793755..27796214,2	K562	blood:
8	chr7:27780417..27784283-chr7:27794073..27796581,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000106052	Chromatin interaction
ENSG00000106049	Chromatin interaction
ENSG00000229893	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3504587	chr7:27782321-27784475	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv2603706	chr7:27783015-27784618	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3341189	chr7:27783147-27783831	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv2172029	chr7:27783190-27783790	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3478162	chr7:27783242-27783804	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv3478164	chr7:27783252-27783791	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv3322384	chr7:27783264-27783801	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv3394670	chr7:27783323-27783779	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 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	chr7:27780600-27784600	Weak transcription	Spleen	Spleen
2	chr7:27780800-27784600	Weak transcription	Left Ventricle	heart
3	chr7:27780800-27788800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:27780800-27789400	Weak transcription	Lung	lung
5	chr7:27780800-27796400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:27780800-27805600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:27780800-27810200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:27780800-27815200	Weak transcription	Gastric	stomach
9	chr7:27781000-27784000	Weak transcription	HUVEC	blood vessel
10	chr7:27781000-27784200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:27781000-27784200	Weak transcription	NH-A	brain
12	chr7:27781000-27784400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:27781000-27784600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:27781000-27784600	Weak transcription	Brain Substantia Nigra	brain
15	chr7:27781000-27784600	Weak transcription	Colonic Mucosa	Colon
16	chr7:27781000-27784600	Weak transcription	Ovary	ovary
17	chr7:27781000-27789000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:27781000-27800200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:27781000-27861800	Weak transcription	Aorta	Aorta
20	chr7:27781200-27784200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:27781200-27784200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:27781200-27784200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:27781200-27784200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:27781200-27784200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:27781200-27784200	Weak transcription	Fetal Intestine Large	intestine
26	chr7:27781200-27784200	Weak transcription	Stomach Mucosa	stomach
27	chr7:27781200-27784200	Weak transcription	Dnd41	blood
28	chr7:27781200-27784200	Weak transcription	GM12878-XiMat	blood
29	chr7:27781200-27784200	Weak transcription	Hela-S3	cervix
30	chr7:27781200-27784200	Weak transcription	Osteobl	bone
31	chr7:27781200-27784400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:27781200-27784400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:27781200-27784400	Weak transcription	Primary T cells from cord blood	blood
34	chr7:27781200-27784400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:27781200-27784400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:27781200-27784400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:27781200-27784400	Weak transcription	HSMMtube	muscle
38	chr7:27781200-27784400	Weak transcription	NHLF	lung
39	chr7:27781200-27784600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:27781200-27784600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr7:27781200-27784600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:27781200-27784600	Weak transcription	Primary B cells from peripheral blood	blood
43	chr7:27781200-27784600	Weak transcription	Brain Anterior Caudate	brain
44	chr7:27781200-27784600	Weak transcription	Fetal Heart	heart
45	chr7:27781200-27784600	Weak transcription	Fetal Kidney	kidney
46	chr7:27781200-27784600	Weak transcription	Fetal Lung	lung
47	chr7:27781200-27784600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr7:27781200-27784600	Weak transcription	HMEC	breast
49	chr7:27781200-27784600	Weak transcription	HSMM	muscle
50	chr7:27781200-27784600	Weak transcription	NHEK	skin

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