Variant report

Variant	rs530230797
Chromosome Location	chr12:30997314-30997315
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	chr12:29669971..29670947-chr12:30997067..30997929,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv34091	chr12:30927650-31061815	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1052957	chr12:30951520-31191197	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv541439	chr12:30951520-31191197	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1052869	chr12:30951520-31399162	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	esv2422447	chr12:30954811-31449815	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv832362	chr12:30957786-31124983	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1053711	chr12:30959987-31156297	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv558030	chr12:30969675-31266287	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	esv3377311	chr12:30984179-31044167	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3368550	chr12:30996776-31003802	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30986400-31006400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:30996200-30997400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr12:30996200-30997600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:30996400-30997400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr12:30996400-30997400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:30996800-30997400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:30997000-30997400	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr12:30997000-30997400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr12:30997000-30997400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:30997000-30997600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr12:30997000-30997600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:30997200-30997400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr12:30997200-30997400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr12:30997200-30997400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
15	chr12:30997200-30997400	Enhancers	Stomach Mucosa	stomach
16	chr12:30997200-30997400	Enhancers	HepG2	liver
17	chr12:30997200-30997400	Bivalent Enhancer	HUVEC	blood vessel
18	chr12:30997200-30997400	Flanking Active TSS	K562	blood
19	chr12:30997200-30997600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:30997200-30997600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:30997200-30997600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr12:30997200-30997600	Enhancers	Fetal Kidney	kidney
23	chr12:30997200-30997600	Enhancers	Hela-S3	cervix

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