Variant report

Variant	rs560604823
Chromosome Location	chr8:126272840-126272841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126272501..126275279-chr8:126275432..126278029,2	MCF-7	breast:
2	chr8:126270332..126273344-chr8:126442265..126444903,5	MCF-7	breast:
3	chr8:126268163..126270276-chr8:126271842..126273931,2	MCF-7	breast:
4	chr8:126272014..126274936-chr8:126439430..126443589,3	MCF-7	breast:
5	chr4:83481988..83484509-chr8:126272393..126274695,2	MCF-7	breast:
6	chr8:126271453..126274338-chr8:126284581..126287313,3	MCF-7	breast:
7	chr8:126272432..126274189-chr8:126283876..126286401,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249242	Chromatin interaction
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv3419040	chr8:126271495-126339914	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126239600-126274000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr8:126255400-126287800	Weak transcription	Primary B cells from cord blood	blood
3	chr8:126257400-126273600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr8:126261400-126286000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:126262200-126288200	Weak transcription	Ovary	ovary
6	chr8:126263400-126279000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:126264800-126310600	Weak transcription	Aorta	Aorta
8	chr8:126265600-126274800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:126265600-126296600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:126266000-126273400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:126266200-126274000	Weak transcription	Fetal Thymus	thymus
12	chr8:126267400-126276400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:126267800-126273200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:126267800-126274600	Weak transcription	Primary T cells from cord blood	blood
15	chr8:126267800-126276200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:126268000-126273400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:126268200-126273200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr8:126268200-126273800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr8:126268600-126280800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr8:126271600-126273600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:126271600-126273800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:126271600-126275600	Weak transcription	Psoas Muscle	Psoas
23	chr8:126271800-126273400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:126271800-126273600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr8:126272000-126273400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr8:126272200-126273200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr8:126272200-126276400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:126272400-126273200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:126272800-126273400	Weak transcription	Stomach Mucosa	stomach
30	chr8:126272800-126273600	Enhancers	NHEK	skin
31	chr8:126272800-126273800	Enhancers	Hela-S3	cervix
32	chr8:126272800-126279600	Weak transcription	A549	lung
33	chr8:126272800-126283200	Weak transcription	K562	blood
34	chr8:126272800-126283400	Weak transcription	HMEC	breast
35	chr8:126272800-126283600	Weak transcription	Fetal Intestine Small	intestine
36	chr8:126272800-126283800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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