Variant report

Variant	rs6519764
Chromosome Location	chr22:29219122-29219123
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29218155..29220197-chr22:29278281..29280075,2	MCF-7	breast:
2	chr22:29136235..29138885-chr22:29217499..29221885,4	MCF-7	breast:
3	chr22:29186338..29186896-chr22:29218806..29219506,2	MCF-7	breast:
4	chr22:29209469..29210394-chr22:29218588..29219526,8	MCF-7	breast:
5	chr22:29209499..29210507-chr22:29218962..29220139,4	MCF-7	breast:
6	chr22:29213023..29215621-chr22:29217579..29220443,3	K562	blood:
7	chr22:29209489..29210416-chr22:29218518..29220322,7	MCF-7	breast:
8	chr16:502348..502868-chr22:29219091..29219706,2	MCF-7	breast:
9	chr22:29218995..29220521-chr22:29221339..29224322,2	K562	blood:
10	chr12:49522441..49525386-chr22:29218833..29220718,2	MCF-7	breast:
11	chr22:29196893..29199581-chr22:29217147..29221069,5	K562	blood:
12	chr22:29209433..29210241-chr22:29218806..29219519,5	MCF-7	breast:
13	chr22:29209392..29210394-chr22:29218588..29219512,11	MCF-7	breast:
14	chr20:52823396..52825853-chr22:29217786..29220272,2	MCF-7	breast:
15	chr22:29218595..29221875-chr22:29223900..29227184,8	MCF-7	breast:
16	chr22:29194781..29197653-chr22:29218234..29220697,2	K562	blood:
17	chr22:29126583..29142031-chr22:29203252..29220632,67	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000183765	Chromatin interaction
ENSG00000101132	Chromatin interaction
ENSG00000100209	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000100219	Chromatin interaction
ENSG00000183579	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000226471	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12159764	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs132530	1.00[YRI][hapmap]
rs1547424	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16986714	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1894590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2269575	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41281601	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4484131	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4645087	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5762799	0.83[YRI][hapmap]
rs57652775	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59954406	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5997399	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5997400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5997403	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5997404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6005875	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6005876	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6005878	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6005879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6005893	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005900	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6005905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005906	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005915	0.88[YRI][hapmap]
rs6005918	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6005920	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60513698	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7284322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7290019	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7290679	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7290958	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7291783	0.84[ASN][1000 genomes]
rs73388819	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73388827	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73388828	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73388838	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73388841	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73388872	0.83[EUR][1000 genomes]
rs73399615	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73399621	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9941965	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29197200-29231600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr22:29197400-29220400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:29198000-29225200	Weak transcription	HSMM	muscle
4	chr22:29198400-29225200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr22:29198600-29219400	Weak transcription	NHLF	lung
6	chr22:29198600-29225200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr22:29198600-29225200	Weak transcription	Osteobl	bone
8	chr22:29198600-29231400	Weak transcription	HSMMtube	muscle
9	chr22:29198800-29230800	Weak transcription	NHEK	skin
10	chr22:29200600-29231400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr22:29205400-29225600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr22:29208200-29221000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr22:29211800-29219200	Enhancers	Fetal Thymus	thymus
14	chr22:29211800-29225600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr22:29212000-29225200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr22:29213600-29220600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr22:29214000-29219200	Enhancers	Pancreas	Pancrea
18	chr22:29214600-29222800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr22:29214600-29223000	Weak transcription	Fetal Stomach	stomach
20	chr22:29214800-29242200	Weak transcription	Aorta	Aorta
21	chr22:29215000-29225200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr22:29215200-29225200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr22:29215400-29225600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr22:29215600-29225600	Weak transcription	Fetal Muscle Leg	muscle
25	chr22:29215600-29231600	Weak transcription	Right Ventricle	heart
26	chr22:29215800-29225200	Weak transcription	Colon Smooth Muscle	Colon
27	chr22:29215800-29225400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr22:29215800-29225600	Weak transcription	Adipose Nuclei	Adipose
29	chr22:29216000-29219200	Weak transcription	A549	lung
30	chr22:29216000-29219800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr22:29216000-29227600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr22:29216000-29231600	Weak transcription	Placenta	Placenta
33	chr22:29216000-29232800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr22:29216000-29233800	Weak transcription	Left Ventricle	heart
35	chr22:29216000-29238600	Weak transcription	Spleen	Spleen
36	chr22:29216200-29227600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr22:29216600-29220600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr22:29216800-29219800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr22:29216800-29220600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr22:29216800-29221000	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr22:29217000-29220000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr22:29217000-29220400	Enhancers	Primary T cells from cord blood	blood
43	chr22:29217000-29220400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr22:29217000-29220400	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr22:29217000-29220400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr22:29217000-29221000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr22:29217200-29220000	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr22:29217400-29219600	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr22:29217400-29220000	Enhancers	Primary hematopoietic stem cells	blood
50	chr22:29217600-29219400	Strong transcription	Stomach Smooth Muscle	stomach

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