Variant report

Variant	rs560241828
Chromosome Location	chr6:27218200-27218201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr6:27218167-27219373	H1-hESC	embryonic stem cell:	n/a	chr6:27218683-27218695
2	POLR2A	chr6:27216644-27224576	K562	blood:	n/a	n/a
3	RUNX3	chr6:27218143-27218530	GM12878	blood:	n/a	n/a
4	POLR2A	chr6:27217747-27220268	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr6:27218053-27220057	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27110323..27115581-chr6:27216717..27220429,5	K562	blood:
2	chr6:27217724..27219322-chr6:27799079..27801494,2	MCF-7	breast:
3	chr6:27099473..27102319-chr6:27217669..27219889,2	K562	blood:
4	chr6:27111807..27118148-chr6:27215986..27222524,9	K562	blood:
5	chr6:27217680..27220381-chr6:27773874..27775997,2	K562	blood:
6	chr6:27217585..27220597-chr6:27438809..27440860,3	K562	blood:

No data

Variant related genes	Relation type
PRSS16	TF binding region
ENSG00000124635	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000197914	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000096654	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	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1017328	chr6:27177147-27369588	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv883505	chr6:27210614-27300580	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv3366700	chr6:27218098-27220596	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27215600-27218800	Bivalent/Poised TSS	Fetal Thymus	thymus
2	chr6:27216000-27218200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:27217600-27218200	Enhancers	K562	blood
4	chr6:27217800-27218400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
5	chr6:27217800-27218600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr6:27217800-27220200	Active TSS	H1 Cell Line	embryonic stem cell
7	chr6:27218000-27218200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr6:27218000-27218200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr6:27218000-27218200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:27218000-27218400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:27218000-27218400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
12	chr6:27218000-27218400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
13	chr6:27218000-27218400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:27218000-27218400	Enhancers	HMEC	breast
15	chr6:27218000-27218600	Flanking Active TSS	GM12878-XiMat	blood
16	chr6:27218000-27218800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr6:27218000-27220000	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr6:27218000-27220200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr6:27218000-27220200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
20	chr6:27218200-27218400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:27218200-27218400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:27218200-27218400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:27218200-27218400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr6:27218200-27218400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:27218200-27218400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:27218200-27218400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:27218200-27218400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
28	chr6:27218200-27218400	Bivalent Enhancer	Fetal Intestine Large	intestine
29	chr6:27218200-27218400	Bivalent Enhancer	Placenta	Placenta
30	chr6:27218200-27218400	Flanking Active TSS	Pancreas	Pancrea
31	chr6:27218200-27218400	Bivalent Enhancer	Stomach Mucosa	stomach
32	chr6:27218200-27218400	Enhancers	NHEK	skin
33	chr6:27218200-27218600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
34	chr6:27218200-27218600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
35	chr6:27218200-27218600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:27218200-27218600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
37	chr6:27218200-27218600	Flanking Active TSS	K562	blood
38	chr6:27218200-27218800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
39	chr6:27218200-27219800	Bivalent/Poised TSS	Aorta	Aorta
40	chr6:27218200-27220000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr6:27218200-27220000	Active TSS	A549	lung
42	chr6:27218200-27220200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:27218200-27220200	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr6:27218200-27220200	Active TSS	Duodenum Mucosa	Duodenum
45	chr6:27218200-27220400	Active TSS	HUES48 Cell Line	embryonic stem cell

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