Variant report

Variant	rs71369826
Chromosome Location	chr17:46046830-46046831
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46046297..46048098-chr17:46050701..46053030,2	MCF-7	breast:
2	chr17:46033549..46039001-chr17:46046732..46050276,6	K562	blood:
3	chr17:46017765..46021634-chr17:46045854..46051133,6	MCF-7	breast:
4	chr17:45917404..45919085-chr17:46045221..46048078,2	K562	blood:
5	chr17:45971215..45974947-chr17:46046480..46050487,6	MCF-7	breast:
6	chr17:46031321..46037809-chr17:46043555..46050276,13	K562	blood:
7	chr17:46023026..46029175-chr17:46044937..46051234,10	K562	blood:
8	chr17:46018061..46020719-chr17:46045036..46046879,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234494	Chromatin interaction
ENSG00000167182	Chromatin interaction
ENSG00000108465	Chromatin interaction
ENSG00000141295	Chromatin interaction
ENSG00000264920	Chromatin interaction
ENSG00000264019	Chromatin interaction
ENSG00000108439	Chromatin interaction
ENSG00000167183	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12939977	1.00[AMR][1000 genomes]
rs12941306	0.88[AFR][1000 genomes]
rs12942412	0.92[AFR][1000 genomes]
rs12944699	0.83[AFR][1000 genomes]
rs12945188	0.88[AFR][1000 genomes]
rs12947966	0.88[AFR][1000 genomes]
rs12948207	0.88[AFR][1000 genomes]
rs34166016	0.85[AFR][1000 genomes]
rs34358803	0.88[AFR][1000 genomes]
rs34601263	0.88[AFR][1000 genomes]
rs34632031	0.83[AFR][1000 genomes]
rs34822864	0.83[AFR][1000 genomes]
rs34958507	0.88[AFR][1000 genomes]
rs35273388	0.83[AFR][1000 genomes]
rs35677091	0.81[AFR][1000 genomes]
rs35751035	0.88[AFR][1000 genomes]
rs35766594	0.88[AFR][1000 genomes]
rs35795560	0.88[AFR][1000 genomes]
rs35848720	0.88[AFR][1000 genomes]
rs36059789	0.88[AFR][1000 genomes]
rs36090279	0.83[AFR][1000 genomes]
rs59727791	0.88[AFR][1000 genomes]
rs6503951	0.83[AFR][1000 genomes]
rs71377331	0.88[AFR][1000 genomes]
rs71377332	0.88[AFR][1000 genomes]
rs71377334	0.83[AFR][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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908575	chr17:45957591-46049533	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46019800-46047600	Weak transcription	Aorta	Aorta
2	chr17:46027200-46047200	Weak transcription	Spleen	Spleen
3	chr17:46027600-46047400	Weak transcription	Right Ventricle	heart
4	chr17:46027600-46047600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr17:46028000-46047400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr17:46028000-46047600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:46035000-46047400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr17:46036000-46047200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr17:46036600-46047800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr17:46036800-46047400	Weak transcription	Thymus	Thymus
11	chr17:46037800-46047400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr17:46037800-46047400	Enhancers	Fetal Intestine Small	intestine
13	chr17:46037800-46047800	Enhancers	Fetal Intestine Large	intestine
14	chr17:46039600-46047600	Weak transcription	Primary T cells from cord blood	blood
15	chr17:46042800-46047800	Weak transcription	Small Intestine	intestine
16	chr17:46043000-46047800	Enhancers	Pancreas	Pancrea
17	chr17:46043000-46047800	Enhancers	Stomach Mucosa	stomach
18	chr17:46044200-46047600	Weak transcription	Liver	Liver
19	chr17:46044800-46047000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr17:46044800-46047200	Enhancers	Duodenum Mucosa	Duodenum
21	chr17:46044800-46048000	Enhancers	Placenta	Placenta
22	chr17:46045000-46047800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr17:46045200-46047200	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr17:46045200-46047600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr17:46045200-46047600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr17:46045400-46047200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr17:46045400-46047400	Weak transcription	Colon Smooth Muscle	Colon
28	chr17:46045400-46047600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr17:46045400-46047600	Weak transcription	HSMM	muscle
30	chr17:46045400-46047800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr17:46045400-46047800	Weak transcription	Lung	lung
32	chr17:46045400-46048400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr17:46045600-46047200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:46045600-46047200	Weak transcription	Esophagus	oesophagus
35	chr17:46045600-46047400	Weak transcription	HepG2	liver
36	chr17:46045600-46047600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr17:46045600-46047600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr17:46045600-46047600	Weak transcription	Osteobl	bone
39	chr17:46045600-46047800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr17:46045800-46047200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr17:46045800-46047400	Weak transcription	HMEC	breast
42	chr17:46045800-46047600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr17:46045800-46047600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr17:46045800-46047600	Weak transcription	NHEK	skin
45	chr17:46045800-46047800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr17:46045800-46047800	Weak transcription	Ovary	ovary
47	chr17:46045800-46047800	Weak transcription	HSMMtube	muscle
48	chr17:46045800-46047800	Weak transcription	NH-A	brain
49	chr17:46045800-46047800	Weak transcription	NHDF-Ad	bronchial
50	chr17:46045800-46047800	Weak transcription	NHLF	lung

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