Variant report

Variant	rs547350728
Chromosome Location	chr1:46951483-46951484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46950640..46959255-chr1:46986389..46991936,15	K562	blood:
2	chr1:46949358..46952077-chr1:46954011..46956367,2	K562	blood:
3	chr1:46950781..46953808-chr1:46958999..46962653,3	K562	blood:
4	chr1:46943291..46946186-chr1:46950326..46954101,3	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	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1000562	chr1:46832451-47027044	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv3340025	chr1:46950190-46952738	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46933200-46955000	Weak transcription	Right Atrium	heart
2	chr1:46951000-46951600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:46951000-46951800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr1:46951000-46951800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr1:46951000-46951800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
6	chr1:46951000-46951800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:46951000-46951800	Bivalent Enhancer	Fetal Stomach	stomach
8	chr1:46951000-46952000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr1:46951000-46952000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:46951200-46951600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr1:46951200-46951800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr1:46951200-46951800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:46951200-46951800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
14	chr1:46951200-46952000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr1:46951200-46952800	Weak transcription	K562	blood
16	chr1:46951200-46957200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr1:46951400-46951600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:46951400-46951600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:46951400-46951800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr1:46951400-46951800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
21	chr1:46951400-46951800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:46951400-46951800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr1:46951400-46951800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:46951400-46951800	Bivalent Enhancer	Fetal Brain Male	brain

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