Variant report

Variant	rs529971907
Chromosome Location	chr12:67410216-67410217
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67408467..67411253-chr12:67422516..67424188,2	K562	blood:
2	chr12:67376717..67378720-chr12:67409319..67411495,2	MCF-7	breast:
3	chr12:67405670..67407679-chr12:67409417..67411266,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036984	chr12:67273098-67427543	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1041160	chr12:67357870-67439696	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv469462	chr12:67361657-67475906	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv559211	chr12:67361657-67475906	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv1053249	chr12:67395538-67417828	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1046591	chr12:67396219-67423067	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv2762986	chr12:67409191-67413365	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67392600-67411800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:67397000-67412800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:67407200-67410400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr12:67408400-67411800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:67408600-67412200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:67409600-67412400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:67409600-67412400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:67409800-67411600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:67409800-67411600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:67409800-67411800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:67409800-67411800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:67409800-67411800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:67409800-67412200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:67409800-67412200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:67409800-67412400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:67409800-67412400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:67409800-67412800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:67409800-67420800	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:67409800-67420800	Weak transcription	Right Atrium	heart
20	chr12:67410000-67411800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:67410200-67412600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:67410200-67412600	Weak transcription	Fetal Brain Male	brain

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