Variant report

Variant	rs80147948
Chromosome Location	chr7:104603169-104603170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104592416..104594450-chr7:104601446..104605080,3	K562	blood:
2	chr7:104601811..104603786-chr7:104606553..104608105,2	MCF-7	breast:
3	chr7:104591329..104593966-chr7:104601076..104603723,3	K562	blood:
4	chr7:104595365..104601201-chr7:104602410..104607281,8	K562	blood:
5	chr7:104601027..104603831-chr7:104652216..104655024,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239569	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000005483	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	esv3433121	chr7:104603053-104603545	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104584600-104619000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:104587200-104623600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:104591600-104604600	Weak transcription	Fetal Kidney	kidney
4	chr7:104595600-104605600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:104597200-104608200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:104597800-104606200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:104598000-104603400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:104598000-104619800	Weak transcription	Primary T cells from cord blood	blood
9	chr7:104598000-104621600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr7:104598200-104611600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr7:104598200-104620800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:104598200-104621400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr7:104598200-104623000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr7:104598400-104607600	Weak transcription	HSMM	muscle
15	chr7:104599000-104617200	Weak transcription	Gastric	stomach
16	chr7:104599200-104603800	Weak transcription	HepG2	liver
17	chr7:104599400-104603800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:104599400-104604200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:104599600-104603200	Weak transcription	Fetal Stomach	stomach
20	chr7:104600600-104603600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr7:104601000-104604000	Enhancers	GM12878-XiMat	blood
22	chr7:104601000-104604600	Enhancers	Primary hematopoietic stem cells	blood
23	chr7:104601000-104604600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:104601000-104604600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:104601000-104605400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:104601000-104605400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:104601200-104603200	Enhancers	Esophagus	oesophagus
28	chr7:104601200-104603200	Enhancers	Spleen	Spleen
29	chr7:104601200-104603400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr7:104601200-104604400	Enhancers	Fetal Thymus	thymus
31	chr7:104601200-104604400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr7:104601200-104604600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:104601200-104604800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:104601200-104605400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:104601200-104605400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:104601200-104605400	Enhancers	HMEC	breast
37	chr7:104601400-104604000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr7:104601400-104604800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:104601400-104605400	Enhancers	HUVEC	blood vessel
40	chr7:104601400-104605600	Enhancers	Stomach Smooth Muscle	stomach
41	chr7:104601400-104605800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:104601600-104604000	Weak transcription	Brain Anterior Caudate	brain
43	chr7:104601600-104604600	Enhancers	Lung	lung
44	chr7:104601800-104603800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:104601800-104603800	Weak transcription	NHLF	lung
46	chr7:104601800-104604000	Weak transcription	Brain Angular Gyrus	brain
47	chr7:104601800-104604000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr7:104601800-104604200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr7:104601800-104604200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr7:104601800-104604200	Weak transcription	Left Ventricle	heart

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