Variant report

Variant	rs5763288
Chromosome Location	chr22:29902382-29902383
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29900167..29903084-chr22:29905527..29908118,2	K562	blood:

Variant related genes	Relation type
ENSG00000100296	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2348471	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5752925	0.80[ASN][1000 genomes]
rs5752926	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5752927	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5752928	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5752932	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5763272	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5763273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5763282	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5763284	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5763285	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5997485	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997487	0.85[ASN][1000 genomes]
rs6006167	0.80[ASN][1000 genomes]
rs6006172	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6006176	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6006177	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs756630	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29878000-29903000	Weak transcription	Pancreas	Pancrea
2	chr22:29878800-29902600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr22:29882800-29903200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:29883800-29904000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:29885000-29902600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr22:29885600-29904000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:29886000-29903400	Weak transcription	Gastric	stomach
8	chr22:29886200-29902800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr22:29891000-29902600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr22:29891000-29903600	Weak transcription	Spleen	Spleen
11	chr22:29891000-29904000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr22:29891200-29902600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:29891200-29902600	Weak transcription	Fetal Lung	lung
14	chr22:29891200-29903000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr22:29891400-29903000	Weak transcription	Aorta	Aorta
16	chr22:29891600-29902800	Weak transcription	HUVEC	blood vessel
17	chr22:29891600-29907400	Weak transcription	Fetal Brain Male	brain
18	chr22:29891800-29903600	Weak transcription	Small Intestine	intestine
19	chr22:29894200-29902600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr22:29894600-29914800	Weak transcription	Hela-S3	cervix
21	chr22:29894800-29902400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr22:29895000-29902400	Weak transcription	Lung	lung
23	chr22:29895800-29916800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr22:29896800-29902600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr22:29896800-29902600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr22:29896800-29904000	Weak transcription	HepG2	liver
27	chr22:29896800-29904000	Weak transcription	HMEC	breast
28	chr22:29897600-29934600	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr22:29898000-29902600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr22:29898200-29947400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:29898400-29902600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr22:29898400-29911400	Weak transcription	Fetal Kidney	kidney
33	chr22:29898600-29902400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr22:29899400-29903200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr22:29899800-29909600	Strong transcription	Primary T cells from cord blood	blood
36	chr22:29900000-29902400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr22:29900000-29902400	Weak transcription	Placenta	Placenta
38	chr22:29900200-29902400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr22:29900200-29902600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr22:29900200-29902600	Weak transcription	HSMMtube	muscle
41	chr22:29900200-29902800	Weak transcription	Ovary	ovary
42	chr22:29900200-29902800	Weak transcription	NHDF-Ad	bronchial
43	chr22:29900200-29903000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr22:29900200-29903600	Weak transcription	Brain Angular Gyrus	brain
45	chr22:29900200-29904000	Weak transcription	Psoas Muscle	Psoas
46	chr22:29900400-29902400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr22:29900400-29902400	Weak transcription	Brain Substantia Nigra	brain
48	chr22:29900400-29902600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr22:29900400-29902600	Weak transcription	Adipose Nuclei	Adipose
50	chr22:29900400-29902600	Weak transcription	NH-A	brain

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