Variant report

Variant	rs5998023
Chromosome Location	chr22:31908025-31908026
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31907252..31908998-chr22:32028816..32030585,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11704156	0.81[AMR][1000 genomes]
rs16989291	1.00[CEU][hapmap]
rs2413054	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3747156	1.00[CEU][hapmap]
rs4820972	0.82[AMR][1000 genomes]
rs5749277	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5753649	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753682	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998045	0.86[EUR][1000 genomes]
rs60389972	0.85[AFR][1000 genomes]
rs695413	0.82[AMR][1000 genomes]
rs695582	0.82[AMR][1000 genomes]
rs73158585	0.80[AFR][1000 genomes]
rs73158592	0.90[AFR][1000 genomes]
rs73160605	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73160645	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73160648	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs738655	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9784236	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063634	chr22:31797004-31921254	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv459872	chr22:31833759-31977594	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv588894	chr22:31833759-31977594	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	esv3334530	chr22:31889221-31909085	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1059314	chr22:31893613-31936088	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv914978	chr22:31897795-31942770	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31893200-31912200	Weak transcription	Small Intestine	intestine
2	chr22:31893200-31934800	Weak transcription	Ovary	ovary
3	chr22:31893400-31909000	Weak transcription	Liver	Liver
4	chr22:31893400-31920400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:31893400-31971200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr22:31893600-31909000	Weak transcription	Fetal Brain Male	brain
7	chr22:31893600-31925600	Weak transcription	Gastric	stomach
8	chr22:31893600-31926200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr22:31893600-31928200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:31893600-31934800	Weak transcription	Pancreas	Pancrea
11	chr22:31893600-31946600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr22:31893600-31970000	Weak transcription	Colonic Mucosa	Colon
13	chr22:31893800-31913400	Weak transcription	Fetal Muscle Leg	muscle
14	chr22:31893800-31914600	Weak transcription	HepG2	liver
15	chr22:31893800-31921800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr22:31893800-31924600	Weak transcription	Adipose Nuclei	Adipose
17	chr22:31893800-31924600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr22:31893800-31925200	Weak transcription	Brain Hippocampus Middle	brain
19	chr22:31893800-31925400	Weak transcription	Brain Angular Gyrus	brain
20	chr22:31893800-31925600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr22:31893800-31926400	Weak transcription	Fetal Lung	lung
22	chr22:31893800-31927000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr22:31893800-31934800	Weak transcription	HMEC	breast
24	chr22:31893800-31945600	Weak transcription	Brain Anterior Caudate	brain
25	chr22:31894000-31913200	Weak transcription	K562	blood
26	chr22:31894000-31926400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr22:31894000-31946600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr22:31894000-31946600	Weak transcription	Fetal Brain Female	brain
29	chr22:31894400-31913600	Weak transcription	Primary B cells from cord blood	blood
30	chr22:31895400-31931200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr22:31897200-31924800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr22:31898000-31934800	Weak transcription	Spleen	Spleen
33	chr22:31900200-31914600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr22:31900200-31926400	Weak transcription	HSMM	muscle
35	chr22:31900600-31913600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr22:31900800-31919000	Weak transcription	HUVEC	blood vessel
37	chr22:31900800-31940800	Weak transcription	NHEK	skin
38	chr22:31901000-31911000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr22:31901000-31926200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr22:31901000-31926400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr22:31901800-31926000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr22:31902000-31914000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr22:31902400-31915000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr22:31903400-31934400	Weak transcription	Hela-S3	cervix
45	chr22:31903600-31913800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr22:31903800-31910600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr22:31903800-31913600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr22:31904200-31908200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr22:31904400-31944200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr22:31904600-31909600	Strong transcription	Primary B cells from peripheral blood	blood

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