Variant report

Variant	rs2235713
Chromosome Location	chr22:28430652-28430653
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	chr22:28421365..28425106-chr22:28428246..28431609,4	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12484116	0.81[JPT][hapmap]
rs135646	0.87[GIH][hapmap];0.81[JPT][hapmap];0.86[TSI][hapmap]
rs135654	0.81[JPT][hapmap]
rs16985722	1.00[CEU][hapmap]
rs16985863	0.82[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17484428	1.00[CEU][hapmap]
rs2076505	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2267128	1.00[CEU][hapmap]
rs2294818	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34564977	0.87[ASN][1000 genomes]
rs8137183	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8138623	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28416600-28431000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr22:28423400-28431800	Enhancers	Fetal Thymus	thymus
3	chr22:28425600-28430800	Weak transcription	Thymus	Thymus
4	chr22:28426400-28432000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr22:28426400-28433000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:28426800-28430800	Weak transcription	Primary T cells from cord blood	blood
7	chr22:28427400-28442200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:28427600-28431200	Weak transcription	HepG2	liver
9	chr22:28428000-28431200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:28428400-28430800	Enhancers	K562	blood
11	chr22:28428400-28431800	Enhancers	Fetal Heart	heart
12	chr22:28428400-28432000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr22:28428400-28432000	Enhancers	Fetal Muscle Leg	muscle
14	chr22:28428400-28432200	Enhancers	Primary hematopoietic stem cells	blood
15	chr22:28428600-28431800	Enhancers	HUVEC	blood vessel
16	chr22:28428600-28432000	Enhancers	Fetal Lung	lung
17	chr22:28428800-28430800	Enhancers	Brain Germinal Matrix	brain
18	chr22:28428800-28431000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr22:28429400-28431200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr22:28429600-28431200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr22:28429600-28442200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:28429800-28431600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr22:28429800-28431800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr22:28429800-28431800	Enhancers	Fetal Stomach	stomach
25	chr22:28429800-28432000	Enhancers	Fetal Brain Male	brain
26	chr22:28430000-28430800	Enhancers	Fetal Brain Female	brain
27	chr22:28430000-28431400	Enhancers	Lung	lung
28	chr22:28430000-28431600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr22:28430000-28431600	Enhancers	Psoas Muscle	Psoas
30	chr22:28430000-28431600	Enhancers	Right Atrium	heart
31	chr22:28430000-28431600	Enhancers	Right Ventricle	heart
32	chr22:28430000-28431600	Enhancers	Spleen	Spleen
33	chr22:28430000-28431800	Enhancers	Brain Cingulate Gyrus	brain
34	chr22:28430000-28431800	Enhancers	Brain Hippocampus Middle	brain
35	chr22:28430000-28432000	Enhancers	Brain Angular Gyrus	brain
36	chr22:28430200-28431200	Enhancers	Aorta	Aorta
37	chr22:28430200-28431400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr22:28430200-28431400	Enhancers	Esophagus	oesophagus
39	chr22:28430200-28431600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr22:28430200-28431600	Enhancers	Brain Anterior Caudate	brain
41	chr22:28430200-28431600	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr22:28430200-28431600	Enhancers	Duodenum Mucosa	Duodenum
43	chr22:28430200-28431600	Enhancers	Fetal Muscle Trunk	muscle
44	chr22:28430200-28431600	Enhancers	Placenta	Placenta
45	chr22:28430200-28431600	Enhancers	Ovary	ovary
46	chr22:28430200-28431600	Enhancers	Pancreas	Pancrea
47	chr22:28430200-28431600	Enhancers	HSMM	muscle
48	chr22:28430200-28431600	Enhancers	NHLF	lung
49	chr22:28430200-28431800	Enhancers	Brain Substantia Nigra	brain
50	chr22:28430200-28431800	Enhancers	Fetal Intestine Large	intestine

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