Variant report

Variant	rs62237400
Chromosome Location	chr22:31582869-31582870
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	chr22:31582003..31584515-chr22:31685360..31688125,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100100	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1005624	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10428007	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11089491	0.81[ASN][1000 genomes]
rs12106582	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12627805	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12628752	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17220369	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2073858	0.81[ASN][1000 genomes]
rs2239905	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2239906	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2267171	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2283878	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2413041	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28709894	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34184692	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4561750	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4615	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4645077	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4820040	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4820949	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4820965	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55737363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55900008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5749226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749231	0.81[ASN][1000 genomes]
rs5749232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5749237	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5749244	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753487	0.91[ASN][1000 genomes]
rs5753488	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753499	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753501	0.86[ASN][1000 genomes]
rs5753518	0.81[ASN][1000 genomes]
rs5753528	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753550	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5753551	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5753560	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5753573	0.87[EUR][1000 genomes]
rs5753577	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61006749	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62236175	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62237396	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62237398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237404	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62237436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs68136222	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72617294	0.81[ASN][1000 genomes]
rs73158522	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs737809	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs886074	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr22:31557200-31591200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr22:31557400-31595200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr22:31557400-31597800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr22:31557600-31591800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr22:31557800-31587000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr22:31557800-31588400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr22:31558600-31583000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr22:31558600-31591400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr22:31558800-31591200	Weak transcription	Fetal Brain Male	brain
10	chr22:31558800-31606000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr22:31562400-31583200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr22:31566200-31583000	Weak transcription	Brain Angular Gyrus	brain
13	chr22:31566400-31583000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr22:31569600-31583200	Weak transcription	Brain Anterior Caudate	brain
15	chr22:31569800-31583000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr22:31569800-31591600	Weak transcription	Small Intestine	intestine
17	chr22:31570000-31606400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr22:31570200-31583000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr22:31570400-31583000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr22:31570400-31586800	Strong transcription	Fetal Stomach	stomach
21	chr22:31570400-31597800	Weak transcription	HUVEC	blood vessel
22	chr22:31572200-31600000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr22:31573600-31583000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr22:31573600-31583000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr22:31574000-31583200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr22:31574200-31590800	Weak transcription	Brain Substantia Nigra	brain
27	chr22:31574400-31601600	Weak transcription	Fetal Heart	heart
28	chr22:31574600-31583200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr22:31574800-31583000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:31574800-31587200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr22:31575800-31583000	Weak transcription	Adipose Nuclei	Adipose
32	chr22:31575800-31583000	Weak transcription	Aorta	Aorta
33	chr22:31575800-31583000	Weak transcription	HepG2	liver
34	chr22:31575800-31588600	Weak transcription	Colon Smooth Muscle	Colon
35	chr22:31575800-31588600	Weak transcription	NHLF	lung
36	chr22:31575800-31591600	Weak transcription	NH-A	brain
37	chr22:31575800-31602600	Weak transcription	Stomach Mucosa	stomach
38	chr22:31575800-31607600	Weak transcription	Hela-S3	cervix
39	chr22:31576000-31583000	Weak transcription	Colonic Mucosa	Colon
40	chr22:31576000-31583000	Weak transcription	Esophagus	oesophagus
41	chr22:31576000-31583000	Weak transcription	Gastric	stomach
42	chr22:31576000-31583000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr22:31576000-31583000	Weak transcription	Psoas Muscle	Psoas
44	chr22:31576000-31583000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr22:31576000-31583000	Weak transcription	GM12878-XiMat	blood
46	chr22:31576000-31583000	Weak transcription	NHDF-Ad	bronchial
47	chr22:31576000-31583000	Weak transcription	NHEK	skin
48	chr22:31576000-31583200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr22:31576000-31583400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr22:31576000-31583400	Weak transcription	HMEC	breast

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