Variant report

Variant	rs67087719
Chromosome Location	chr22:30615511-30615512
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	chr22:30615297..30616835-chr22:30622320..30624672,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12483946	0.81[AFR][1000 genomes]
rs12484740	0.81[AFR][1000 genomes]
rs16988402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16988410	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2073946	0.80[ASN][1000 genomes]
rs2078856	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73404522	0.93[AFR][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	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
2	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
3	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv914968	chr22:30610570-30693581	Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30605600-30622600	Weak transcription	Right Atrium	heart
2	chr22:30609600-30616200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr22:30609800-30616400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr22:30609800-30616600	Weak transcription	Spleen	Spleen
5	chr22:30609800-30617800	Weak transcription	Esophagus	oesophagus
6	chr22:30610600-30615600	Enhancers	K562	blood
7	chr22:30611200-30624800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr22:30611400-30616200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr22:30611600-30615800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr22:30612600-30615600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr22:30612600-30615600	Enhancers	Fetal Intestine Small	intestine
12	chr22:30613000-30615600	Enhancers	Fetal Intestine Large	intestine
13	chr22:30613000-30615800	Enhancers	A549	lung
14	chr22:30613400-30615600	Enhancers	HMEC	breast
15	chr22:30614400-30616200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr22:30614400-30616400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr22:30614400-30616600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr22:30614400-30619200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr22:30614400-30619200	Weak transcription	NH-A	brain
20	chr22:30614400-30624800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr22:30614600-30619200	Weak transcription	Osteobl	bone
22	chr22:30614600-30620000	Weak transcription	HSMMtube	muscle
23	chr22:30614600-30620400	Weak transcription	NHLF	lung
24	chr22:30615000-30615600	Enhancers	Placenta	Placenta
25	chr22:30615000-30616600	Enhancers	Dnd41	blood
26	chr22:30615200-30615600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr22:30615200-30616200	Enhancers	Primary T cells from cord blood	blood
28	chr22:30615200-30616400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr22:30615200-30616600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr22:30615200-30616600	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr22:30615200-30616800	Enhancers	Primary T cells fromperipheralblood	blood
32	chr22:30615200-30616800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr22:30615200-30616800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr22:30615200-30616800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr22:30615200-30616800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr22:30615200-30616800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr22:30615200-30617000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr22:30615400-30615600	Enhancers	Thymus	Thymus
39	chr22:30615400-30615800	Weak transcription	Fetal Thymus	thymus
40	chr22:30615400-30616800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr22:30615400-30619200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr22:30615400-30619600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr22:30615400-30626000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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