Variant report

Variant	rs10483154
Chromosome Location	chr22:29492258-29492259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29486742..29489044-chr22:29491221..29492780,2	K562	blood:
2	chr22:29491726..29493460-chr22:29507047..29509625,2	K562	blood:
3	chr22:29490478..29492943-chr22:29507351..29509908,2	K562	blood:
4	chr22:29490386..29492445-chr22:29548625..29550170,2	K562	blood:
5	chr22:29468314..29470474-chr22:29489688..29492570,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183762	Chromatin interaction
ENSG00000226772	Chromatin interaction

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

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

rs_ID	r²[population]
rs1022482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12160337	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12628129	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12628787	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs12628791	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs16987014	0.85[CEU][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs16987051	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987052	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987079	0.86[EUR][1000 genomes]
rs16987083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16987084	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28817997	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35829194	0.88[EUR][1000 genomes]
rs5752865	0.87[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs5752869	0.88[EUR][1000 genomes]
rs6519771	0.86[EUR][1000 genomes]
rs6519772	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs7286554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286634	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7287223	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][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]
rs7289560	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8135301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8142545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29475600-29505600	Weak transcription	Spleen	Spleen
2	chr22:29476800-29494800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:29478800-29498200	Weak transcription	Brain Germinal Matrix	brain
4	chr22:29480600-29498000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr22:29480800-29492400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr22:29486000-29492600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr22:29486600-29494800	Weak transcription	NHEK	skin
9	chr22:29486600-29519000	Weak transcription	Fetal Brain Male	brain
10	chr22:29488400-29492400	Weak transcription	Right Ventricle	heart
11	chr22:29488400-29521200	Weak transcription	Lung	lung
12	chr22:29488600-29494800	Weak transcription	Placenta	Placenta
13	chr22:29488800-29492400	Weak transcription	Pancreas	Pancrea
14	chr22:29489000-29492600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:29489000-29494800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:29489200-29494800	Weak transcription	Adipose Nuclei	Adipose
17	chr22:29489600-29492600	Strong transcription	Esophagus	oesophagus
18	chr22:29489600-29492800	Weak transcription	Small Intestine	intestine
19	chr22:29489600-29493000	Enhancers	HepG2	liver
20	chr22:29489600-29499800	Strong transcription	Dnd41	blood
21	chr22:29489800-29492400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr22:29489800-29492600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr22:29489800-29493000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr22:29490000-29492400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr22:29490000-29492600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr22:29490000-29492800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr22:29490000-29501600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr22:29490000-29505200	Weak transcription	Aorta	Aorta
29	chr22:29490000-29514000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr22:29490200-29492400	Weak transcription	Brain Angular Gyrus	brain
31	chr22:29490200-29492400	Weak transcription	Fetal Kidney	kidney
32	chr22:29490200-29492600	Weak transcription	NH-A	brain
33	chr22:29490200-29492800	Strong transcription	Thymus	Thymus
34	chr22:29490200-29492800	Weak transcription	HSMM	muscle
35	chr22:29490200-29502800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr22:29490200-29503600	Weak transcription	HMEC	breast
37	chr22:29490400-29492400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr22:29490400-29492600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr22:29490400-29492800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr22:29490400-29492800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr22:29490400-29492800	Weak transcription	HSMMtube	muscle
42	chr22:29490400-29493000	Weak transcription	NHLF	lung
43	chr22:29490400-29499000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr22:29490400-29501400	Weak transcription	Colon Smooth Muscle	Colon
45	chr22:29490400-29508000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
47	chr22:29490600-29495000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr22:29490800-29492800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr22:29490800-29492800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr22:29491000-29492400	Strong transcription	Rectal Mucosa Donor 29	rectum

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