Variant report

Variant	rs743745
Chromosome Location	chr22:33116779-33116780
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	chr22:33115192..33117854-chr22:33156131..33157646,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10854627	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10854628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11089591	0.87[ASN][1000 genomes]
rs11913403	0.89[ASN][1000 genomes]
rs13054529	0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs13058500	0.87[CHB][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1475978	0.86[JPT][hapmap]
rs1475979	0.86[JPT][hapmap]
rs16991028	0.86[JPT][hapmap]
rs16991084	0.87[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs2899193	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4821089	0.83[CHB][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes]
rs5754222	0.87[CHB][hapmap];0.86[ASN][1000 genomes]
rs5754226	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs5754227	0.87[CHB][hapmap]
rs7286819	0.90[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7291090	0.91[CHB][hapmap];0.89[ASN][1000 genomes]
rs7291198	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7291871	0.99[ASN][1000 genomes]
rs731933	0.87[CHB][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs743741	0.87[CHB][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs743742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs743744	0.84[CHB][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8136470	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs9619301	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs997120	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.99[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	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv588897	chr22:33116314-33139230	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33104400-33117000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr22:33110400-33116800	Weak transcription	NHDF-Ad	bronchial
3	chr22:33111000-33118600	Weak transcription	HSMMtube	muscle
4	chr22:33111400-33116800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr22:33112200-33121400	Enhancers	Fetal Thymus	thymus
6	chr22:33113000-33121600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:33113400-33120400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr22:33113800-33116800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:33113800-33116800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr22:33114000-33116800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr22:33114200-33119400	Weak transcription	Esophagus	oesophagus
12	chr22:33114400-33116800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr22:33114400-33116800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:33114400-33116800	Weak transcription	Adipose Nuclei	Adipose
15	chr22:33114400-33116800	Weak transcription	Fetal Lung	lung
16	chr22:33114400-33116800	Weak transcription	Right Atrium	heart
17	chr22:33114400-33116800	Weak transcription	NHLF	lung
18	chr22:33114400-33117000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr22:33114400-33119000	Weak transcription	Small Intestine	intestine
20	chr22:33114400-33119400	Weak transcription	Left Ventricle	heart
21	chr22:33114400-33121400	Weak transcription	Colon Smooth Muscle	Colon
22	chr22:33114600-33121800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr22:33115000-33116800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr22:33115000-33116800	Weak transcription	Placenta	Placenta
25	chr22:33115200-33117400	Enhancers	Fetal Muscle Leg	muscle
26	chr22:33115600-33116800	Enhancers	HepG2	liver
27	chr22:33115600-33119600	Enhancers	Thymus	Thymus
28	chr22:33115800-33117400	Enhancers	Fetal Intestine Large	intestine
29	chr22:33115800-33119400	Enhancers	Dnd41	blood
30	chr22:33115800-33122200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr22:33116000-33117600	Enhancers	Fetal Intestine Small	intestine
32	chr22:33116000-33119400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr22:33116000-33119600	Enhancers	Primary T cells from cord blood	blood
34	chr22:33116200-33117000	Enhancers	Fetal Kidney	kidney
35	chr22:33116200-33117400	Enhancers	Primary hematopoietic stem cells	blood
36	chr22:33116200-33117400	Enhancers	Fetal Muscle Trunk	muscle
37	chr22:33116200-33119400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr22:33116400-33116800	Enhancers	Rectal Smooth Muscle	rectum
39	chr22:33116400-33117400	Enhancers	Lung	lung
40	chr22:33116400-33117400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr22:33116400-33117400	Enhancers	Spleen	Spleen
42	chr22:33116400-33119600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr22:33116400-33120400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr22:33116400-33120600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr22:33116600-33116800	Weak transcription	Colonic Mucosa	Colon
46	chr22:33116600-33116800	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr22:33116600-33117200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr22:33116600-33117200	Enhancers	NH-A	brain
49	chr22:33116600-33117400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr22:33116600-33117400	Enhancers	Duodenum Mucosa	Duodenum

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