Variant report

Variant	rs539283946
Chromosome Location	chr12:67337916-67337917
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67331706..67333236-chr12:67337234..67339922,2	K562	blood:
2	chr12:67331706..67334297-chr12:67337234..67339922,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053250	chr12:67067995-67381411	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1044939	chr12:67207260-67377982	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	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
4	nsv1054433	chr12:67302689-67357930	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv541523	chr12:67302689-67357930	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	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
7	nsv1040723	chr12:67329322-67396230	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv525987	chr12:67336812-67394408	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67328800-67339200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:67335000-67338200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr12:67335200-67338000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:67335400-67340800	Weak transcription	HMEC	breast
5	chr12:67335800-67345200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:67336400-67338400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:67336400-67338600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:67336400-67343600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:67336600-67338000	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:67336600-67338600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:67336800-67338000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:67337000-67338000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:67337200-67338200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:67337200-67338200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:67337600-67344800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:67337800-67338200	Enhancers	Brain Anterior Caudate	brain
17	chr12:67337800-67338600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr12:67337800-67338600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:67337800-67338600	Enhancers	Primary T cells from cord blood	blood
20	chr12:67337800-67339600	Enhancers	HUES6 Cell Line	embryonic stem cell

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