Variant report

Variant	rs564429764
Chromosome Location	chr2:11823932-11823933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11680434..11682728-chr2:11821990..11824270,2	MCF-7	breast:
2	chr2:11821773..11824708-chr2:11826423..11828172,3	K562	blood:
3	chr2:11755856..11757722-chr2:11823519..11825566,2	MCF-7	breast:
4	chr2:11726425..11728921-chr2:11823603..11825849,2	K562	blood:
5	chr2:11670570..11676286-chr2:11818745..11824828,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196208	Chromatin interaction
ENSG00000264010	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv469449	chr2:11808654-11854012	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv580972	chr2:11808654-11854012	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv527025	chr2:11823585-11833459	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11818000-11828200	Weak transcription	Right Atrium	heart
2	chr2:11818400-11828400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:11818400-11828400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:11818800-11824000	Weak transcription	Spleen	Spleen
5	chr2:11820800-11824400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr2:11821400-11825600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr2:11821400-11827800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:11822000-11824200	Enhancers	Brain Anterior Caudate	brain
9	chr2:11822600-11824000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:11822600-11828200	Weak transcription	Pancreas	Pancrea
11	chr2:11822800-11827600	Weak transcription	Hela-S3	cervix
12	chr2:11823000-11828200	Weak transcription	Psoas Muscle	Psoas
13	chr2:11823200-11824200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:11823400-11824200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:11823600-11824200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
16	chr2:11823600-11824400	Enhancers	Brain Cingulate Gyrus	brain
17	chr2:11823600-11826800	Enhancers	Ovary	ovary
18	chr2:11823800-11824000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:11823800-11824000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:11823800-11824000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:11823800-11824000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:11823800-11824000	Bivalent Enhancer	A549	lung
23	chr2:11823800-11824000	Bivalent Enhancer	HepG2	liver
24	chr2:11823800-11824200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:11823800-11824200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr2:11823800-11824200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:11823800-11824400	Enhancers	Brain Substantia Nigra	brain

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