Variant report

Variant	rs5762412
Chromosome Location	chr22:28327264-28327265
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28313170..28318455-chr22:28322115..28328804,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180957	Chromatin interaction
ENSG00000264073	Chromatin interaction
ENSG00000235954	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12160891	0.87[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs130413	0.88[CHB][hapmap]
rs2073028	0.93[JPT][hapmap]
rs2143180	0.87[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2267125	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2345019	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28372773	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5752651	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5752670	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5762395	0.81[ASN][1000 genomes]
rs5762396	0.81[ASN][1000 genomes]
rs5762398	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs5762400	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs5762404	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs5762410	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762425	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5762428	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5762448	0.88[CHB][hapmap]
rs5997318	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6005672	0.82[AFR][1000 genomes]
rs6005674	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs714743	0.87[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73166732	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28316200-28328400	Weak transcription	Aorta	Aorta
2	chr22:28316200-28337400	Weak transcription	Ovary	ovary
3	chr22:28316400-28328200	Weak transcription	Left Ventricle	heart
4	chr22:28316400-28329000	Weak transcription	Pancreas	Pancrea
5	chr22:28316400-28329000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr22:28316400-28335000	Weak transcription	Colonic Mucosa	Colon
7	chr22:28316400-28336800	Weak transcription	Fetal Muscle Leg	muscle
8	chr22:28316400-28342600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr22:28316400-28358600	Weak transcription	Placenta	Placenta
10	chr22:28316400-28370200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr22:28316400-28376800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr22:28316400-28378000	Weak transcription	Esophagus	oesophagus
13	chr22:28316600-28328600	Weak transcription	Stomach Mucosa	stomach
14	chr22:28316600-28348400	Weak transcription	Brain Substantia Nigra	brain
15	chr22:28316800-28329000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr22:28316800-28333800	Weak transcription	Brain Hippocampus Middle	brain
17	chr22:28316800-28336600	Weak transcription	Fetal Intestine Large	intestine
18	chr22:28316800-28340400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr22:28317000-28327400	Weak transcription	Adipose Nuclei	Adipose
20	chr22:28317000-28338800	Weak transcription	Fetal Intestine Small	intestine
21	chr22:28317000-28340800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:28317000-28348200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr22:28317200-28336600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr22:28317600-28329000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr22:28317600-28340800	Weak transcription	Thymus	Thymus
26	chr22:28317800-28342600	Weak transcription	Small Intestine	intestine
27	chr22:28317800-28345200	Weak transcription	HepG2	liver
28	chr22:28318600-28332400	Weak transcription	K562	blood
29	chr22:28318800-28382000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr22:28319400-28334000	Weak transcription	Fetal Stomach	stomach
31	chr22:28319600-28340800	Weak transcription	Fetal Thymus	thymus
32	chr22:28319600-28358000	Weak transcription	Brain Germinal Matrix	brain
33	chr22:28319600-28383000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr22:28320800-28347800	Weak transcription	HUVEC	blood vessel
35	chr22:28321000-28327600	Weak transcription	Liver	Liver
36	chr22:28321000-28354800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr22:28321200-28329000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr22:28321200-28358400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr22:28321400-28340400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr22:28321400-28379000	Weak transcription	Primary B cells from cord blood	blood
41	chr22:28321600-28332200	Weak transcription	Fetal Brain Female	brain
42	chr22:28321600-28345000	Weak transcription	Fetal Lung	lung
43	chr22:28321800-28342800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr22:28322000-28365200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr22:28322000-28366200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr22:28322200-28339600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr22:28322400-28329000	Weak transcription	Primary T cells from cord blood	blood
48	chr22:28322600-28329400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr22:28323000-28331000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:28323800-28346000	Weak transcription	Dnd41	blood

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