Variant report

Variant	rs72847781
Chromosome Location	chr17:66506264-66506265
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr17:66505676-66506305	ECC-1	luminal epithelium:	n/a	n/a
2	KAP1	chr17:66505782-66506962	U2OS	brain:	n/a	n/a
3	MXI1	chr17:66506146-66510554	SK-N-SH	brain:	n/a	chr17:66508093-66508102 chr17:66508484-66508499 chr17:66508095-66508104
4	JUND	chr17:66506165-66506474	HepG2	liver:	n/a	n/a
5	KAP1	chr17:66505726-66506990	HEK293	kidney:	n/a	n/a
6	SPI1	chr17:66505715-66506290	HL-60	blood:	n/a	chr17:66506227-66506240
7	STAT3	chr17:66506258-66506757	MCF10A-Er-Src	breast:	n/a	chr17:66506706-66506714
8	NFIC	chr17:66505713-66506309	ECC-1	luminal epithelium:	n/a	n/a
9	HEY1	chr17:66505225-66506330	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:66502403..66503970-chr17:66505898..66507509,2	K562	blood:
2	chr17:66242526..66245524-chr17:66505598..66508247,2	MCF-7	breast:
3	chr17:66503157..66506597-chr17:66507024..66509568,3	K562	blood:

Variant related genes	Relation type
PRKAR1A	TF binding region
ENSG00000108946	Chromatin interaction
ENSG00000265100	Chromatin interaction
ENSG00000196704	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10468444	0.85[ASN][1000 genomes]
rs10852738	0.82[EUR][1000 genomes]
rs16972996	0.85[ASN][1000 genomes]
rs16973034	0.86[ASN][1000 genomes]
rs2015212	0.86[ASN][1000 genomes]
rs2302235	0.85[ASN][1000 genomes]
rs3785905	0.85[ASN][1000 genomes]
rs55736761	0.85[ASN][1000 genomes]
rs56112060	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57936225	0.82[EUR][1000 genomes]
rs7221724	0.85[ASN][1000 genomes]
rs72847782	0.89[ASN][1000 genomes]
rs72847784	0.86[ASN][1000 genomes]
rs72847785	0.85[ASN][1000 genomes]
rs72847787	0.83[ASN][1000 genomes]
rs72847789	0.85[ASN][1000 genomes]
rs72847794	0.85[ASN][1000 genomes]
rs72847801	0.86[ASN][1000 genomes]
rs74000753	0.85[ASN][1000 genomes]
rs8067357	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8072598	0.85[ASN][1000 genomes]
rs8082254	0.84[ASN][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	nsv833523	chr17:66343323-66510461	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66502000-66507600	Weak transcription	Left Ventricle	heart
2	chr17:66503600-66507400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr17:66503600-66507400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr17:66503600-66507600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr17:66504000-66507400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:66504200-66507200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr17:66504200-66507400	Weak transcription	NHLF	lung
8	chr17:66504200-66507400	Weak transcription	Osteobl	bone
9	chr17:66504200-66507600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr17:66504400-66507000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:66504400-66507600	Weak transcription	HSMMtube	muscle
12	chr17:66505000-66506800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr17:66505000-66507400	Enhancers	Primary B cells from cord blood	blood
14	chr17:66505000-66507400	Enhancers	Adipose Nuclei	Adipose
15	chr17:66505200-66506800	Weak transcription	Brain Angular Gyrus	brain
16	chr17:66505200-66507200	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr17:66505200-66507200	Flanking Active TSS	HepG2	liver
18	chr17:66505200-66507400	Enhancers	Fetal Lung	lung
19	chr17:66505200-66507400	Enhancers	Fetal Muscle Leg	muscle
20	chr17:66505200-66507400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr17:66505200-66507600	Enhancers	HUVEC	blood vessel
22	chr17:66505400-66506400	Enhancers	Fetal Heart	heart
23	chr17:66505400-66507200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr17:66505400-66507600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr17:66505400-66507600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:66505400-66507600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:66505600-66506400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr17:66505600-66506600	Weak transcription	Psoas Muscle	Psoas
29	chr17:66505600-66506600	Enhancers	HSMM	muscle
30	chr17:66505600-66507200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:66505600-66507200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:66505600-66507200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr17:66505600-66507200	Enhancers	GM12878-XiMat	blood
34	chr17:66505600-66507400	Enhancers	Primary hematopoietic stem cells	blood
35	chr17:66505800-66506600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr17:66505800-66506600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr17:66505800-66506600	Enhancers	HMEC	breast
38	chr17:66505800-66506600	Enhancers	NHEK	skin
39	chr17:66505800-66506800	Enhancers	Spleen	Spleen
40	chr17:66505800-66507200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr17:66505800-66507400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr17:66505800-66507400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr17:66505800-66507400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr17:66505800-66507400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr17:66505800-66507400	Enhancers	Brain Hippocampus Middle	brain
46	chr17:66505800-66507400	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr17:66505800-66507600	Enhancers	Brain Anterior Caudate	brain
48	chr17:66505800-66507600	Enhancers	Esophagus	oesophagus
49	chr17:66506000-66506400	Enhancers	Fetal Kidney	kidney
50	chr17:66506000-66506600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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