Variant report

Variant	rs372645804
Chromosome Location	chr6:28047515-28047516
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr6:28047509-28049480	K562	blood:	n/a	n/a
2	FOXA1	chr6:28047509-28047987	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28046111..28048022-chr6:28095723..28098620,2	K562	blood:
2	chr6:27859779..27863183-chr6:28046529..28048591,3	MCF-7	breast:
3	chr6:28046886..28048721-chr6:28303106..28304865,2	K562	blood:
4	chr6:27803974..27806831-chr6:28047434..28050953,3	K562	blood:
5	chr6:28046527..28048657-chr6:28057860..28059913,2	MCF-7	breast:
6	chr13:39260551..39262193-chr6:28047138..28049723,2	MCF-7	breast:
7	chr6:27858116..27862502-chr6:28047404..28050448,4	K562	blood:
8	chr6:28047155..28050172-chr6:28104375..28106249,3	K562	blood:
9	chr6:28046681..28048670-chr6:28358880..28361224,2	K562	blood:
10	chr6:28044713..28049958-chr6:28107484..28111355,5	K562	blood:
11	chr6:27805460..27807795-chr6:28047138..28049507,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF165	TF binding region
ENSG00000150893	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000261839	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000269293	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000198315	Chromatin interaction
ENSG00000219891	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000197153	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830619	chr6:27872302-28062544	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv33436	chr6:28044346-28049043	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv823466	chr6:28046620-28048635	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv823467	chr6:28046710-28048540	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28043200-28047800	Weak transcription	Spleen	Spleen
2	chr6:28045200-28047600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:28045600-28047800	Weak transcription	Right Atrium	heart
4	chr6:28045800-28047800	Weak transcription	Fetal Brain Male	brain
5	chr6:28046000-28047800	Weak transcription	Fetal Heart	heart
6	chr6:28046400-28047600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:28046800-28047600	Enhancers	Primary B cells from peripheral blood	blood
8	chr6:28046800-28047600	Enhancers	Placenta	Placenta
9	chr6:28046800-28047800	Weak transcription	Left Ventricle	heart
10	chr6:28047000-28047600	Flanking Active TSS	GM12878-XiMat	blood
11	chr6:28047000-28047600	Enhancers	HepG2	liver
12	chr6:28047000-28047800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:28047000-28047800	Weak transcription	Lung	lung
14	chr6:28047000-28048400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:28047200-28047600	Enhancers	Primary B cells from cord blood	blood
16	chr6:28047200-28047600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr6:28047200-28047600	Enhancers	Liver	Liver
18	chr6:28047200-28047600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr6:28047200-28047600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr6:28047200-28047800	Active TSS	Fetal Brain Female	brain
21	chr6:28047200-28049000	Active TSS	Monocytes-CD14+_RO01746	blood
22	chr6:28047200-28049200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:28047200-28049400	Active TSS	Hela-S3	cervix
24	chr6:28047400-28047600	Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr6:28047400-28047600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:28047400-28047600	Enhancers	Brain Hippocampus Middle	brain
27	chr6:28047400-28047600	Enhancers	Dnd41	blood
28	chr6:28047400-28047800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:28047400-28048200	Active TSS	Primary hematopoietic stem cells	blood
30	chr6:28047400-28049200	Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr6:28047400-28049200	Active TSS	Colonic Mucosa	Colon
32	chr6:28047400-28049200	Active TSS	Duodenum Mucosa	Duodenum
33	chr6:28047400-28049200	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr6:28047400-28049200	Active TSS	K562	blood
35	chr6:28047400-28051400	Active TSS	Breast Myoepithelial Primary Cells	Breast

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