Variant report

Variant	rs11622780
Chromosome Location	chr14:71972346-71972347
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71788065..71790973-chr14:71970310..71972468,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259146	Chromatin interaction
ENSG00000197555	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11625612	1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs11625974	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718853	1.00[TSI][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71935400-71980400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:71946000-71995600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr14:71954400-71978200	Weak transcription	Primary T cells from cord blood	blood
4	chr14:71956000-71979800	Weak transcription	Aorta	Aorta
5	chr14:71959400-71977600	Weak transcription	Fetal Brain Male	brain
6	chr14:71963000-71979600	Weak transcription	Primary B cells from cord blood	blood
7	chr14:71964800-71979600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:71964800-71979600	Weak transcription	Hela-S3	cervix
9	chr14:71965000-71979600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:71965000-71979600	Weak transcription	HSMMtube	muscle
11	chr14:71965200-71988000	Weak transcription	HSMM	muscle
12	chr14:71965400-71978600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr14:71965400-71981600	Weak transcription	Brain Angular Gyrus	brain
14	chr14:71965600-71979600	Weak transcription	Osteobl	bone
15	chr14:71966200-71979600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr14:71966200-71981800	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:71966200-71996400	Weak transcription	NHEK	skin
18	chr14:71967400-71977400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:71967800-71979800	Weak transcription	Spleen	Spleen
20	chr14:71969200-71979600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:71970000-71979600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr14:71970400-71980000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:71970800-71974600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:71971600-71975000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:71971800-71974200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:71972000-71973200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:71972000-71973800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr14:71972000-71979600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:71972000-71979600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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