Variant report

Variant	rs10483138
Chromosome Location	chr22:28264377-28264378
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	chr22:28262052..28264776-chr22:28281551..28284390,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11090518	1.00[CEU][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166069	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170186	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12170294	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12170737	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12330032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16985691	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985697	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985700	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16985704	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985705	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985706	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985707	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985718	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58520548	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59807513	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8140760	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8142319	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8142920	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs926468	1.00[CEU][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306449	1.00[CEU][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306450	1.00[CEU][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620742	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620744	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620745	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620747	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620752	0.84[YRI][hapmap]
rs9625345	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625346	1.00[CEU][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]
rs9625347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625349	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625350	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625352	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625357	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	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
2	nsv588878	chr22:28248840-28314113	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28243800-28274000	Strong transcription	Dnd41	blood
2	chr22:28247000-28311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:28251600-28267400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr22:28252800-28265000	Weak transcription	K562	blood
5	chr22:28252800-28272600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:28253800-28279600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:28254000-28264400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr22:28254000-28279800	Weak transcription	Spleen	Spleen
9	chr22:28254200-28266600	Weak transcription	Fetal Brain Female	brain
10	chr22:28254200-28270200	Weak transcription	Right Ventricle	heart
11	chr22:28254400-28265200	Weak transcription	Brain Germinal Matrix	brain
12	chr22:28254600-28267400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr22:28255000-28271200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr22:28256000-28279800	Weak transcription	Colonic Mucosa	Colon
15	chr22:28256800-28268400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr22:28258200-28265800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr22:28258200-28267400	Weak transcription	Lung	lung
18	chr22:28258200-28267800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr22:28258200-28275000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr22:28258400-28266400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr22:28258600-28266400	Enhancers	Fetal Lung	lung
22	chr22:28259000-28267400	Enhancers	Fetal Intestine Small	intestine
23	chr22:28259000-28267800	Weak transcription	Pancreas	Pancrea
24	chr22:28259200-28266000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr22:28259200-28279800	Weak transcription	Esophagus	oesophagus
26	chr22:28259400-28265600	Weak transcription	Placenta	Placenta
27	chr22:28259400-28267200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr22:28259400-28267400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr22:28259600-28279600	Weak transcription	Gastric	stomach
30	chr22:28261400-28264400	Enhancers	Adipose Nuclei	Adipose
31	chr22:28261400-28264800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr22:28261400-28264800	Enhancers	Rectal Smooth Muscle	rectum
33	chr22:28261400-28265000	Enhancers	Fetal Stomach	stomach
34	chr22:28261400-28265200	Enhancers	NHLF	lung
35	chr22:28261600-28265200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr22:28261800-28264400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:28261800-28265800	Weak transcription	Psoas Muscle	Psoas
38	chr22:28261800-28267400	Enhancers	Fetal Intestine Large	intestine
39	chr22:28262000-28265200	Enhancers	Brain Anterior Caudate	brain
40	chr22:28262000-28265200	Enhancers	Fetal Kidney	kidney
41	chr22:28262200-28264400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr22:28262200-28265000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
43	chr22:28262200-28266400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
44	chr22:28262200-28267400	Enhancers	Liver	Liver
45	chr22:28262400-28264800	Genic enhancers	NHEK	skin
46	chr22:28262400-28265800	Enhancers	Fetal Heart	heart
47	chr22:28262600-28264400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr22:28262600-28264600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr22:28262600-28265400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr22:28262800-28264400	Enhancers	Rectal Mucosa Donor 31	rectum

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