Variant report

Variant	rs16990045
Chromosome Location	chr21:17184381-17184382
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	chr21:17102381..17104317-chr21:17182917..17184854,2	MCF-7	breast:
2	chr21:17183890..17186142-chr21:17188084..17189942,2	K562	blood:

Variant related genes	Relation type
ENSG00000155313	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11908733	0.81[AFR][1000 genomes]
rs11909513	0.86[AFR][1000 genomes]
rs11910291	0.86[AFR][1000 genomes]
rs16990721	0.86[AFR][1000 genomes]
rs16990739	0.86[AFR][1000 genomes]
rs16990800	0.83[AFR][1000 genomes]
rs16991283	0.86[AFR][1000 genomes]
rs58865638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61664470	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7279840	0.86[AFR][1000 genomes]
rs8133076	0.86[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	nsv834050	chr21:17146090-17348951	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1063035	chr21:17154222-17224344	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17151800-17191000	Weak transcription	NH-A	brain
2	chr21:17155000-17187400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr21:17155000-17188600	Weak transcription	HepG2	liver
4	chr21:17155200-17184600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr21:17155200-17186200	Weak transcription	Fetal Thymus	thymus
6	chr21:17155200-17187200	Weak transcription	Thymus	Thymus
7	chr21:17155200-17187400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr21:17155200-17187800	Weak transcription	Fetal Kidney	kidney
9	chr21:17155200-17189800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr21:17155200-17197600	Weak transcription	Fetal Heart	heart
11	chr21:17155200-17199200	Weak transcription	Right Ventricle	heart
12	chr21:17155200-17203800	Weak transcription	Colon Smooth Muscle	Colon
13	chr21:17155200-17209800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr21:17155200-17252800	Weak transcription	Fetal Brain Male	brain
15	chr21:17155800-17185400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr21:17155800-17186200	Weak transcription	Fetal Muscle Leg	muscle
17	chr21:17155800-17187200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr21:17161400-17187200	Weak transcription	Aorta	Aorta
19	chr21:17161600-17187400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr21:17169000-17194200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr21:17170000-17185000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr21:17170400-17185800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr21:17171400-17187600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr21:17174400-17193000	Weak transcription	NHEK	skin
25	chr21:17174600-17187000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr21:17175800-17189800	Weak transcription	NHLF	lung
27	chr21:17176000-17198200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr21:17176600-17187200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:17177200-17186200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr21:17177200-17186400	Weak transcription	Brain Germinal Matrix	brain
31	chr21:17177200-17187200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr21:17177200-17187200	Weak transcription	Ovary	ovary
33	chr21:17177200-17189800	Weak transcription	Pancreas	Pancrea
34	chr21:17177200-17208800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr21:17177400-17185200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr21:17177400-17187200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr21:17177600-17190000	Weak transcription	Brain Anterior Caudate	brain
38	chr21:17177800-17187400	Weak transcription	Gastric	stomach
39	chr21:17178000-17185000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr21:17178200-17185200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr21:17178400-17186000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr21:17178400-17248200	Weak transcription	Esophagus	oesophagus
43	chr21:17178400-17252800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr21:17178600-17185600	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr21:17178800-17211400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr21:17179400-17187200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr21:17179800-17192400	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr21:17180000-17186200	Weak transcription	Fetal Intestine Small	intestine
49	chr21:17180000-17187200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr21:17180000-17187200	Weak transcription	Fetal Stomach	stomach

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