Variant report

Variant	rs72847790
Chromosome Location	chr17:66514119-66514120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:66509415..66511474-chr17:66513629..66516121,3	K562	blood:

Variant related genes	Relation type
ENSG00000108946	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10468444	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10491176	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16972996	1.00[EUR][1000 genomes]
rs16973034	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2015212	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2302235	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3785905	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55736761	1.00[EUR][1000 genomes]
rs7221724	1.00[EUR][1000 genomes]
rs72847782	0.99[EUR][1000 genomes]
rs72847784	0.99[EUR][1000 genomes]
rs72847785	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72847787	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72847789	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72847794	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72847801	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74000753	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8072598	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8082254	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932935	chr17:66511434-66518806	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv933839	chr17:66511434-66518903	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66509600-66525800	Weak transcription	Pancreas	Pancrea
2	chr17:66509800-66514200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:66511200-66514200	Strong transcription	Placenta	Placenta
4	chr17:66511200-66515400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr17:66511200-66516800	Strong transcription	Fetal Thymus	thymus
6	chr17:66511400-66514200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr17:66511400-66514200	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr17:66511400-66514200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr17:66511400-66514600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr17:66511400-66514800	Strong transcription	Dnd41	blood
11	chr17:66511400-66515000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr17:66511400-66516200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr17:66511400-66516400	Strong transcription	Primary hematopoietic stem cells	blood
14	chr17:66511400-66516600	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr17:66511600-66514200	Genic enhancers	HepG2	liver
16	chr17:66511600-66514600	Strong transcription	Primary B cells from cord blood	blood
17	chr17:66511600-66514800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr17:66511600-66515200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr17:66511600-66516400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr17:66511600-66516400	Strong transcription	A549	lung
21	chr17:66511600-66516800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr17:66511600-66537000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr17:66511600-66537000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:66511800-66514200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr17:66511800-66514400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr17:66511800-66514400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr17:66511800-66514400	Genic enhancers	Adipose Nuclei	Adipose
28	chr17:66511800-66514800	Strong transcription	Rectal Smooth Muscle	rectum
29	chr17:66511800-66514800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
30	chr17:66511800-66515200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr17:66511800-66515600	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr17:66511800-66516000	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr17:66511800-66516000	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr17:66511800-66516000	Strong transcription	HSMMtube	muscle
35	chr17:66511800-66516200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr17:66511800-66516200	Strong transcription	Hela-S3	cervix
37	chr17:66511800-66516400	Strong transcription	NH-A	brain
38	chr17:66511800-66516600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr17:66511800-66516600	Strong transcription	NHEK	skin
40	chr17:66511800-66518800	Weak transcription	Small Intestine	intestine
41	chr17:66511800-66522200	Weak transcription	Fetal Brain Male	brain
42	chr17:66511800-66531600	Strong transcription	Fetal Intestine Large	intestine
43	chr17:66511800-66536600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr17:66511800-66537000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr17:66511800-66537800	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr17:66512000-66514200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr17:66512000-66514800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
48	chr17:66512000-66514800	Strong transcription	NHLF	lung
49	chr17:66512000-66516600	Strong transcription	HUVEC	blood vessel
50	chr17:66512000-66530000	Strong transcription	HSMM	muscle

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