Variant report

Variant	rs138683
Chromosome Location	chr22:28462756-28462757
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	chr22:28461994..28463854-chr22:28464020..28466662,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs1028364	0.83[JPT][hapmap]
rs118839	0.82[ASN][1000 genomes]
rs12171034	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134179	0.89[YRI][hapmap]
rs134180	0.94[YRI][hapmap]
rs134196	0.90[YRI][hapmap]
rs138631	0.82[ASN][1000 genomes]
rs138638	0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs138650	0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs138657	0.92[CEU][hapmap]
rs138675	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs138684	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs138685	0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1548235	0.96[CEU][hapmap];0.82[CHB][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2038158	0.81[ASN][1000 genomes]
rs2092054	0.87[ASN][1000 genomes]
rs3747141	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs4140571	0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs470100	0.82[JPT][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs470105	0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7284814	1.00[YRI][hapmap]
rs7625	0.83[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs8140229	0.85[YRI][hapmap]

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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28432000-28469000	Weak transcription	Primary T cells from cord blood	blood
2	chr22:28445200-28470400	Weak transcription	Pancreas	Pancrea
3	chr22:28445400-28470800	Weak transcription	Lung	lung
4	chr22:28445800-28462800	Weak transcription	Left Ventricle	heart
5	chr22:28446200-28467800	Weak transcription	Fetal Muscle Leg	muscle
6	chr22:28449600-28479200	Weak transcription	Brain Germinal Matrix	brain
7	chr22:28449600-28488200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:28450000-28471400	Weak transcription	Colon Smooth Muscle	Colon
9	chr22:28450400-28464800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr22:28450400-28468200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr22:28450600-28468000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr22:28450600-28468200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr22:28450800-28462800	Weak transcription	Psoas Muscle	Psoas
14	chr22:28456800-28471400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr22:28457000-28468000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr22:28457400-28471400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:28457600-28468600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr22:28458400-28471200	Weak transcription	Small Intestine	intestine
19	chr22:28459400-28471200	Weak transcription	Brain Anterior Caudate	brain
20	chr22:28459600-28471400	Weak transcription	HepG2	liver
21	chr22:28459800-28466800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr22:28459800-28468200	Weak transcription	Gastric	stomach
23	chr22:28460000-28465000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr22:28460000-28465600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr22:28460000-28466800	Weak transcription	Fetal Stomach	stomach
26	chr22:28460000-28467800	Weak transcription	Fetal Lung	lung
27	chr22:28460000-28468000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr22:28460000-28471200	Weak transcription	Aorta	Aorta
29	chr22:28460200-28464200	Strong transcription	Dnd41	blood
30	chr22:28460200-28465200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:28460200-28465200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr22:28460600-28464200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr22:28460800-28463000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr22:28461400-28464800	Weak transcription	HSMMtube	muscle
35	chr22:28461600-28465000	Weak transcription	Osteobl	bone
36	chr22:28461600-28466800	Weak transcription	Fetal Brain Female	brain
37	chr22:28461600-28467800	Weak transcription	Fetal Kidney	kidney
38	chr22:28461600-28470800	Weak transcription	Right Ventricle	heart
39	chr22:28461600-28471200	Weak transcription	Ovary	ovary
40	chr22:28461800-28468400	Weak transcription	Fetal Intestine Small	intestine
41	chr22:28462000-28467800	Weak transcription	Fetal Intestine Large	intestine
42	chr22:28462000-28471200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr22:28462200-28462800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr22:28462600-28463000	Strong transcription	Adipose Nuclei	Adipose
45	chr22:28462600-28469400	Weak transcription	Fetal Heart	heart

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