Variant report

Variant	rs79980889
Chromosome Location	chr7:138543120-138543121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138542570..138544795-chr7:138547269..138548947,2	K562	blood:
2	chr12:62935650..62938196-chr7:138541897..138543397,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv831154	chr7:138470488-138674113	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1027143	chr7:138480084-138992900	ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv539136	chr7:138480084-138992900	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv1800954	chr7:138541488-138557718	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138515800-138554000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:138517400-138554200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:138518200-138565800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:138518400-138545400	Weak transcription	Right Ventricle	heart
5	chr7:138519000-138548800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:138519200-138544000	Weak transcription	Placenta	Placenta
7	chr7:138519400-138544600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:138520800-138552400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:138521000-138571000	Weak transcription	Brain Anterior Caudate	brain
10	chr7:138523200-138544200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:138523200-138544400	Weak transcription	Left Ventricle	heart
12	chr7:138523400-138548800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:138523800-138572400	Weak transcription	Fetal Heart	heart
14	chr7:138527000-138549000	Weak transcription	NH-A	brain
15	chr7:138527200-138545800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:138529000-138549000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:138529400-138545400	Weak transcription	Lung	lung
18	chr7:138530800-138566000	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:138531200-138545600	Weak transcription	Fetal Intestine Large	intestine
20	chr7:138532200-138557400	Weak transcription	Small Intestine	intestine
21	chr7:138533600-138549000	Weak transcription	A549	lung
22	chr7:138533600-138549000	Weak transcription	Osteobl	bone
23	chr7:138533600-138553600	Weak transcription	Stomach Mucosa	stomach
24	chr7:138533800-138545400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:138533800-138549200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr7:138534600-138592400	Weak transcription	Brain Angular Gyrus	brain
27	chr7:138534800-138545400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:138535200-138552000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:138535400-138544400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr7:138536000-138544400	Weak transcription	Hela-S3	cervix
31	chr7:138536800-138565200	Weak transcription	Fetal Kidney	kidney
32	chr7:138536800-138583000	Weak transcription	HUVEC	blood vessel
33	chr7:138537600-138545400	Weak transcription	Ovary	ovary
34	chr7:138539200-138557800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr7:138539200-138570400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:138539800-138544400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr7:138540000-138545800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:138540200-138544200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:138540200-138556600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:138540400-138552000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr7:138541000-138543600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
42	chr7:138541000-138544400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:138541000-138546800	Strong transcription	Fetal Muscle Leg	muscle
44	chr7:138541200-138544200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:138541200-138546400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:138541200-138546400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:138541200-138546800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:138541400-138543200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:138541400-138543400	Weak transcription	Pancreas	Pancrea
50	chr7:138541400-138545800	Strong transcription	Fetal Lung	lung

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