Variant report

Variant	rs62227968
Chromosome Location	chr22:29975937-29975938
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29975483..29978642-chr22:29996311..30000725,6	MCF-7	breast:
2	chr22:29951234..29953501-chr22:29974521..29977004,2	MCF-7	breast:
3	chr22:29948374..29951089-chr22:29975785..29978624,4	MCF-7	breast:
4	chr22:29782601..29785697-chr22:29975164..29978533,5	MCF-7	breast:
5	chr22:29975560..29978145-chr22:29998416..30001350,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-THOC5-2	chr22:29975746-29976144	NONHSAT084712

Variant related genes	Relation type
ENSG00000186575	Chromatin interaction
ENSG00000100296	Chromatin interaction
ENSG00000100280	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11090572	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11704455	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12165952	0.90[EUR][1000 genomes]
rs12167058	0.85[EUR][1000 genomes]
rs13054076	0.89[EUR][1000 genomes]
rs1800539	0.92[EUR][1000 genomes]
rs2348686	0.87[EUR][1000 genomes]
rs2530662	0.89[EUR][1000 genomes]
rs2857631	0.83[AFR][1000 genomes]
rs34177947	0.81[EUR][1000 genomes]
rs4823049	0.95[EUR][1000 genomes]
rs55684603	0.87[EUR][1000 genomes]
rs5752946	0.97[EUR][1000 genomes]
rs5763354	0.95[EUR][1000 genomes]
rs5763378	0.89[EUR][1000 genomes]
rs6519792	0.84[EUR][1000 genomes]
rs6519793	0.84[EUR][1000 genomes]
rs8140060	0.84[EUR][1000 genomes]
rs9625841	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv834172	chr22:29899036-30057948	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv521852	chr22:29974831-29983138	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29950200-29976000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:29950400-29976200	Weak transcription	HMEC	breast
3	chr22:29950800-29976200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr22:29952000-29976400	Weak transcription	Right Atrium	heart
5	chr22:29955000-29976000	Weak transcription	NHEK	skin
6	chr22:29955400-29976000	Weak transcription	HUVEC	blood vessel
7	chr22:29957400-29976200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr22:29957600-29976200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr22:29958400-29976000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr22:29958400-29976200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr22:29958400-29976400	Weak transcription	Primary B cells from cord blood	blood
12	chr22:29958400-29976400	Weak transcription	NHDF-Ad	bronchial
13	chr22:29958600-29976200	Weak transcription	HSMM	muscle
14	chr22:29962200-29976000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr22:29963600-29976000	Weak transcription	Fetal Brain Male	brain
16	chr22:29963600-29976000	Weak transcription	NH-A	brain
17	chr22:29965200-29976000	Weak transcription	Fetal Kidney	kidney
18	chr22:29965200-29976400	Weak transcription	Fetal Lung	lung
19	chr22:29965400-29976000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr22:29965400-29976200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:29965400-29976200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr22:29965400-29976200	Weak transcription	Adipose Nuclei	Adipose
23	chr22:29965400-29976200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr22:29965400-29976200	Weak transcription	Colonic Mucosa	Colon
25	chr22:29965400-29976400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr22:29965400-29976400	Weak transcription	HSMMtube	muscle
27	chr22:29965600-29976200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr22:29965800-29976000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr22:29965800-29976200	Weak transcription	Placenta	Placenta
30	chr22:29965800-29976400	Weak transcription	Brain Angular Gyrus	brain
31	chr22:29966200-29976200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr22:29966200-29976200	Weak transcription	Right Ventricle	heart
33	chr22:29966400-29976000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr22:29966400-29976000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr22:29966400-29976000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr22:29966400-29976000	Weak transcription	NHLF	lung
37	chr22:29966400-29976200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr22:29966400-29976200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr22:29966400-29976200	Weak transcription	Spleen	Spleen
40	chr22:29966400-29976400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr22:29966600-29976000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr22:29966600-29976000	Weak transcription	Brain Germinal Matrix	brain
43	chr22:29966600-29976000	Weak transcription	Fetal Thymus	thymus
44	chr22:29966600-29976000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr22:29966600-29976200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr22:29966600-29976200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr22:29966600-29976200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr22:29966600-29976200	Weak transcription	Lung	lung
49	chr22:29966600-29976400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr22:29966600-29976400	Weak transcription	Aorta	Aorta

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