Variant report

Variant	rs1138706
Chromosome Location	chr22:31632241-31632242
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	chr22:31478457..31480769-chr22:31630987..31633945,2	K562	blood:
2	chr22:31629654..31632643-chr22:31644434..31647307,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273387	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000182541	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11089493	0.90[EUR][1000 genomes]
rs11089495	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11089496	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs1123705	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11556237	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703005	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11703576	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11704523	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989469	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1985726	0.82[AMR][1000 genomes]
rs2057951	0.85[EUR][1000 genomes]
rs2899161	0.82[EUR][1000 genomes]
rs4293639	0.87[EUR][1000 genomes]
rs56292834	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57523999	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5753523	0.93[EUR][1000 genomes]
rs5753554	0.84[EUR][1000 genomes]
rs5994386	0.87[EUR][1000 genomes]
rs5994387	0.87[EUR][1000 genomes]
rs5997917	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997921	0.98[EUR][1000 genomes]
rs5997924	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997930	0.81[AFR][1000 genomes]
rs5997942	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5997948	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5997956	0.87[EUR][1000 genomes]
rs5997959	0.83[EUR][1000 genomes]
rs5997965	0.81[EUR][1000 genomes]
rs713619	0.85[EUR][1000 genomes]
rs7285027	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7285716	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286926	0.81[EUR][1000 genomes]
rs739428	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8143159	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8595	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9680708	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31608800-31639800	Weak transcription	Aorta	Aorta
2	chr22:31609600-31639200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr22:31620200-31637200	Weak transcription	HSMM	muscle
4	chr22:31622200-31636800	Weak transcription	Hela-S3	cervix
5	chr22:31622600-31637400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr22:31623800-31632800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr22:31625600-31639800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:31625800-31636000	Weak transcription	Ovary	ovary
9	chr22:31625800-31637000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:31625800-31637000	Weak transcription	HMEC	breast
11	chr22:31625800-31639600	Weak transcription	Esophagus	oesophagus
12	chr22:31626000-31637200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr22:31626000-31637400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr22:31626400-31635000	Weak transcription	Gastric	stomach
15	chr22:31626600-31632400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr22:31626600-31639800	Weak transcription	NHDF-Ad	bronchial
17	chr22:31626600-31643800	Weak transcription	Left Ventricle	heart
18	chr22:31626600-31643800	Weak transcription	Spleen	Spleen
19	chr22:31626800-31639600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr22:31627000-31637000	Weak transcription	NHLF	lung
21	chr22:31627200-31635000	Weak transcription	Small Intestine	intestine
22	chr22:31627200-31635600	Weak transcription	Osteobl	bone
23	chr22:31627200-31637000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr22:31627400-31637400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr22:31627600-31633400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr22:31627600-31635600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr22:31627600-31635800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr22:31627600-31635800	Weak transcription	Fetal Lung	lung
29	chr22:31627600-31637400	Weak transcription	Pancreas	Pancrea
30	chr22:31627600-31637600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr22:31627600-31639000	Weak transcription	Fetal Muscle Leg	muscle
32	chr22:31627600-31639600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr22:31627600-31639800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr22:31627600-31640000	Weak transcription	Fetal Heart	heart
35	chr22:31627600-31640800	Weak transcription	Liver	Liver
36	chr22:31627800-31633800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr22:31627800-31635800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr22:31627800-31636800	Weak transcription	Primary T cells from cord blood	blood
39	chr22:31627800-31636800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr22:31627800-31637000	Weak transcription	K562	blood
41	chr22:31627800-31637400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr22:31627800-31639400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr22:31627800-31639600	Weak transcription	Colon Smooth Muscle	Colon
44	chr22:31627800-31640000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr22:31627800-31640800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr22:31627800-31640800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr22:31627800-31643200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr22:31627800-31643400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr22:31627800-31643400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr22:31628000-31634600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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