Variant report

Variant	rs57545543
Chromosome Location	chr17:38671990-38671991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr17:38671577-38671995	PFSK-1	brain:	n/a	n/a
2	MAX	chr17:38671963-38672332	K562	blood:	n/a	chr17:38672096-38672106
3	POLR2A	chr17:38671635-38672053	PFSK-1	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:38478596..38480701-chr17:38670841..38673186,2	MCF-7	breast:
2	chr17:38669978..38672027-chr17:38691106..38694044,2	K562	blood:
3	chr17:38472782..38476711-chr17:38671565..38675024,4	MCF-7	breast:
4	chr17:38598777..38601316-chr17:38671536..38673167,2	K562	blood:
5	chr17:38476335..38479262-chr17:38671461..38673765,2	K562	blood:
6	chr17:38669573..38672204-chr17:38673213..38675996,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266088	TF binding region
ENSG00000141753	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000266088	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55951994	0.87[AFR][1000 genomes]
rs73983065	0.95[AFR][1000 genomes]
rs73983066	0.95[AFR][1000 genomes]
rs73983072	0.87[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058185	chr17:38629339-38689908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38666800-38674400	Weak transcription	Pancreas	Pancrea
2	chr17:38666800-38675000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr17:38666800-38677400	Weak transcription	Right Atrium	heart
4	chr17:38667000-38673000	Enhancers	A549	lung
5	chr17:38667400-38673000	Weak transcription	Esophagus	oesophagus
6	chr17:38668200-38677400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr17:38668400-38680600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:38668600-38672800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr17:38668600-38675200	Weak transcription	Gastric	stomach
10	chr17:38668800-38672600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr17:38668800-38672600	Weak transcription	Osteobl	bone
12	chr17:38668800-38674600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:38669000-38672200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr17:38669000-38672800	Weak transcription	NHLF	lung
15	chr17:38669000-38673000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr17:38669400-38672800	Enhancers	Hela-S3	cervix
17	chr17:38669800-38672800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr17:38669800-38672800	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr17:38670000-38672600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr17:38670000-38672800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:38670000-38672800	Enhancers	Primary B cells from peripheral blood	blood
22	chr17:38670000-38672800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr17:38670000-38672800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr17:38670200-38673000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr17:38670200-38673000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr17:38670200-38673000	Weak transcription	HSMMtube	muscle
27	chr17:38670400-38672200	Enhancers	Spleen	Spleen
28	chr17:38670400-38672600	Weak transcription	HepG2	liver
29	chr17:38670600-38672600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr17:38670600-38672800	Enhancers	NHEK	skin
31	chr17:38670800-38672600	Enhancers	Primary B cells from cord blood	blood
32	chr17:38670800-38672800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr17:38670800-38672800	Enhancers	Dnd41	blood
34	chr17:38670800-38673200	Enhancers	Fetal Thymus	thymus
35	chr17:38671000-38672800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr17:38671000-38672800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr17:38671200-38672000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr17:38671200-38672000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr17:38671200-38672600	Weak transcription	HSMM	muscle
40	chr17:38671200-38673000	Enhancers	HMEC	breast
41	chr17:38671200-38673200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr17:38671400-38672000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
43	chr17:38671400-38672000	Enhancers	Lung	lung
44	chr17:38671400-38672000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr17:38671400-38672200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr17:38671400-38672400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr17:38671400-38672400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr17:38671400-38672800	Enhancers	Thymus	Thymus
49	chr17:38671400-38673800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr17:38671400-38673800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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