Variant report

Variant	rs2361954
Chromosome Location	chr17:66435340-66435341
allele	A/C
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:66434659..66437799-chr17:66506492..66509221,4	MCF-7	breast:
2	chr17:66242560..66245930-chr17:66432337..66436267,7	MCF-7	breast:
3	chr17:66434518..66436859-chr17:66754791..66757006,2	MCF-7	breast:
4	chr17:66434712..66436946-chr17:66509051..66511211,2	K562	blood:
5	chr17:66435227..66440274-chr17:66440311..66442952,5	MCF-7	breast:
6	chr17:66333479..66335858-chr17:66434362..66436288,2	MCF-7	breast:
7	chr17:66287353..66289449-chr17:66435302..66437800,3	MCF-7	breast:
8	chr17:66434323..66435984-chr17:66440648..66442906,2	MCF-7	breast:
9	chr17:66435049..66438436-chr17:66449646..66452604,3	K562	blood:
10	chr17:66242460..66245252-chr17:66433902..66436004,3	K562	blood:
11	chr17:66286133..66290612-chr17:66424686..66436118,23	MCF-7	breast:
12	chr17:66418699..66423182-chr17:66432036..66435386,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108946	Chromatin interaction
ENSG00000265100	Chromatin interaction
ENSG00000141337	Chromatin interaction
ENSG00000108932	Chromatin interaction
ENSG00000207561	Chromatin interaction
ENSG00000196704	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1030098	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11656906	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11867297	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12940626	0.84[EUR][1000 genomes]
rs1808333	0.80[ASN][1000 genomes]
rs2287301	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs883620	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs883622	0.83[AMR][1000 genomes]
rs918167	0.87[EUR][1000 genomes];0.94[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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66410400-66452400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:66420800-66446400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr17:66420800-66451800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr17:66425400-66451600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:66425400-66452000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr17:66426000-66445400	Weak transcription	Brain Germinal Matrix	brain
7	chr17:66429600-66439600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr17:66429800-66444200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr17:66430800-66444200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr17:66431000-66437000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:66432000-66440400	Weak transcription	Brain Anterior Caudate	brain
12	chr17:66432000-66442200	Weak transcription	Colon Smooth Muscle	Colon
13	chr17:66432200-66435800	Weak transcription	Brain Angular Gyrus	brain
14	chr17:66432200-66437000	Weak transcription	Ovary	ovary
15	chr17:66432200-66439000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr17:66432200-66452400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr17:66432400-66437000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr17:66432400-66438600	Weak transcription	Lung	lung
19	chr17:66432400-66446400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr17:66432600-66436200	Weak transcription	Brain Substantia Nigra	brain
21	chr17:66432600-66436800	Weak transcription	HSMM	muscle
22	chr17:66432600-66437000	Weak transcription	Fetal Stomach	stomach
23	chr17:66432600-66437200	Weak transcription	Aorta	Aorta
24	chr17:66432600-66437200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr17:66432600-66437600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr17:66432600-66437800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr17:66432600-66438400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr17:66432600-66438600	Weak transcription	HSMMtube	muscle
29	chr17:66432600-66438800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr17:66432600-66444200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr17:66432600-66451600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr17:66432800-66437400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr17:66432800-66439400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr17:66432800-66448200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr17:66433000-66435800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr17:66433000-66438800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr17:66433000-66442800	Weak transcription	NHEK	skin
38	chr17:66433000-66444400	Weak transcription	HMEC	breast
39	chr17:66433000-66451800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr17:66433000-66451800	Weak transcription	Hela-S3	cervix
41	chr17:66433600-66437200	Weak transcription	Brain Hippocampus Middle	brain
42	chr17:66433600-66440200	Weak transcription	Gastric	stomach
43	chr17:66433800-66438200	Enhancers	Fetal Lung	lung
44	chr17:66434400-66436400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr17:66434400-66436800	Weak transcription	Fetal Kidney	kidney
46	chr17:66434400-66439000	Enhancers	Primary B cells from cord blood	blood
47	chr17:66434400-66441600	Strong transcription	NH-A	brain
48	chr17:66434400-66447800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr17:66434400-66450200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr17:66434600-66435600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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