Variant report

Variant	rs192048362
Chromosome Location	chr8:129859995-129859996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:129858313..129861214-chr8:130574284..130576982,2	K562	blood:
2	chr8:129858879..129861538-chr8:129862120..129864287,2	MCF-7	breast:
3	chr8:129849900..129852286-chr8:129859025..129860723,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612212	chr8:129851646-129861039	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv612213	chr8:129851646-129862009	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv612214	chr8:129851646-129862252	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3480628	chr8:129859165-129862551	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3480629	chr8:129859165-129862551	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv19677	chr8:129859328-129862377	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv612215	chr8:129859924-129861039	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv612216	chr8:129859924-129861571	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv612217	chr8:129859924-129861680	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv612218	chr8:129859924-129862009	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv612219	chr8:129859924-129862252	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv612220	chr8:129859924-129866274	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv517445	chr8:129859924-129881299	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:129843800-129863600	Weak transcription	Dnd41	blood
2	chr8:129854800-129860000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:129854800-129860800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:129857400-129863400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:129858000-129862200	Weak transcription	NHEK	skin
6	chr8:129858200-129862200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:129858200-129862400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:129858200-129862400	Weak transcription	NHLF	lung
9	chr8:129858400-129860000	Enhancers	Brain Germinal Matrix	brain
10	chr8:129858400-129862400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:129858400-129862400	Weak transcription	HMEC	breast
12	chr8:129858600-129860000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:129858600-129860800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr8:129858600-129862200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:129858600-129868800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:129858800-129860000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:129858800-129862400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:129859000-129862400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:129859000-129862600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:129859000-129863400	Weak transcription	Osteobl	bone
21	chr8:129859400-129862000	Weak transcription	NHDF-Ad	bronchial
22	chr8:129859400-129862400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:129859400-129862400	Weak transcription	HSMM	muscle
24	chr8:129859600-129861800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:129859600-129862000	Weak transcription	Muscle Satellite Cultured Cells	--

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