Variant report

Variant	rs138640
Chromosome Location	chr22:28382390-28382391
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:28378900..28382846-chr22:28384194..28387433,3	K562	blood:
2	chr22:28373482..28376187-chr22:28381012..28382815,2	MCF-7	breast:
3	chr22:28371840..28377290-chr22:28378156..28383171,5	K562	blood:

Variant related genes	Relation type
ENSG00000100154	Chromatin interaction

Extended variants
information (count: 145 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs10154425	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10212036	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10483140	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10483142	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483143	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs118840	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12165651	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12165797	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12166023	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12166077	0.89[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166158	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12166164	0.81[EUR][1000 genomes]
rs12166256	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166389	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12166719	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166740	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166912	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12166938	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167320	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12167829	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12168054	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12168180	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168251	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168582	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12169097	0.98[EUR][1000 genomes]
rs12169888	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12169936	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12170022	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12170558	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170953	0.89[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12171104	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs138636	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138637	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138639	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138642	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs138646	0.81[CEU][hapmap]
rs138651	0.86[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138653	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138654	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138655	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138656	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs138658	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138660	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138664	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138665	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138667	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138669	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138670	0.89[EUR][1000 genomes]
rs138671	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs138672	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985763	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16985967	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985976	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16986037	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16986077	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16987005	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17390800	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17407024	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17483887	0.89[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17484337	0.89[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2745562	0.86[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28375646	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4036493	0.81[AMR][1000 genomes]
rs470098	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs470101	0.90[CEU][hapmap]
rs470102	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs470103	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs470104	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55856549	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56233401	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56393679	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57686964	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58050941	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58823697	0.89[EUR][1000 genomes]
rs7286519	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7288331	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7289984	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7292562	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880355	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73880374	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880375	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880376	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880381	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880382	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880383	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880384	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880385	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880387	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880393	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73880395	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs761322	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs761323	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8141163	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8141173	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9306451	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306452	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9620752	0.81[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9620753	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9620755	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9620757	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9620762	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620764	0.89[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620766	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620767	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620768	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620769	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9620770	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9620771	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625361	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9625363	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625366	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9625367	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625370	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625374	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625375	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625377	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625387	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625388	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625390	0.89[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625391	0.89[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625393	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625395	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625396	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625397	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625398	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625399	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625400	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625402	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625403	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625405	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9625406	0.80[EUR][1000 genomes]
rs9625408	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625409	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625410	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9625413	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625415	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625416	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625417	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625418	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625421	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9625430	0.81[EUR][1000 genomes]
rs9712839	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9985213	0.87[AMR][1000 genomes];0.98[EUR][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	nsv522306	chr22:28378472-28402624	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28319600-28383000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr22:28355400-28387800	Weak transcription	Fetal Brain Male	brain
3	chr22:28360200-28382800	Weak transcription	HSMM	muscle
4	chr22:28360800-28392400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr22:28368400-28383400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr22:28368800-28385800	Weak transcription	Brain Angular Gyrus	brain
7	chr22:28369200-28398400	Weak transcription	Hela-S3	cervix
8	chr22:28369400-28394000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr22:28370400-28382400	Weak transcription	Stomach Mucosa	stomach
10	chr22:28370400-28387200	Weak transcription	Fetal Kidney	kidney
11	chr22:28371800-28386800	Weak transcription	NHDF-Ad	bronchial
12	chr22:28371800-28395000	Weak transcription	Small Intestine	intestine
13	chr22:28372000-28382600	Weak transcription	NH-A	brain
14	chr22:28372000-28382800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr22:28372000-28386400	Weak transcription	HUVEC	blood vessel
16	chr22:28373600-28404000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:28373800-28383000	Strong transcription	Dnd41	blood
18	chr22:28373800-28386400	Strong transcription	Fetal Muscle Leg	muscle
19	chr22:28373800-28398200	Strong transcription	Fetal Brain Female	brain
20	chr22:28373800-28404200	Strong transcription	Fetal Stomach	stomach
21	chr22:28373800-28405200	Strong transcription	Fetal Intestine Small	intestine
22	chr22:28374600-28386400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr22:28376200-28382600	Strong transcription	Brain Germinal Matrix	brain
24	chr22:28376400-28383800	Strong transcription	Ovary	ovary
25	chr22:28376600-28382600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr22:28376800-28383600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr22:28377000-28383400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr22:28377000-28383400	Strong transcription	Placenta	Placenta
29	chr22:28377200-28383400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr22:28377200-28385800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr22:28377200-28386400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr22:28377200-28386800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr22:28377200-28386800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr22:28377200-28387200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr22:28377200-28388600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr22:28377600-28382800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr22:28377600-28382800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr22:28377600-28383200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr22:28377800-28382600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr22:28377800-28382800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr22:28377800-28383200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr22:28377800-28383200	Strong transcription	Primary T cells from cord blood	blood
43	chr22:28377800-28383400	Strong transcription	Stomach Smooth Muscle	stomach
44	chr22:28377800-28386400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr22:28377800-28386800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr22:28377800-28391800	Strong transcription	Fetal Lung	lung
47	chr22:28377800-28398000	Strong transcription	Fetal Intestine Large	intestine
48	chr22:28377800-28398600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr22:28378000-28382400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr22:28378000-28382600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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