Variant report

Variant	rs62454913
Chromosome Location	chr7:27697406-27697407
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27695799..27697664-chr7:27823575..27825771,2	K562	blood:
2	chr7:27696179..27700055-chr7:27700776..27704160,5	MCF-7	breast:
3	chr7:27695861..27699801-chr7:27700986..27703723,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106049	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1014372	0.82[EUR][1000 genomes]
rs10249314	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1029604	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11540483	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11761718	0.97[EUR][1000 genomes]
rs11761773	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11762056	0.88[EUR][1000 genomes]
rs11764419	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11764624	0.88[EUR][1000 genomes]
rs11765792	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11768533	0.80[EUR][1000 genomes]
rs11771265	0.80[EUR][1000 genomes]
rs11772163	0.82[EUR][1000 genomes]
rs11773626	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1468443	0.83[AMR][1000 genomes]
rs17607155	0.82[EUR][1000 genomes]
rs17607303	0.82[EUR][1000 genomes]
rs17680908	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17683094	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2158892	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs41326151	0.86[EUR][1000 genomes]
rs42090	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs42093	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs42095	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs42096	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs42097	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs42114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4719905	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4722736	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4722738	0.80[AMR][1000 genomes]
rs57863648	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59505903	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60247061	0.80[EUR][1000 genomes]
rs60326970	0.83[EUR][1000 genomes]
rs61659103	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62454846	0.80[EUR][1000 genomes]
rs62454847	0.80[EUR][1000 genomes]
rs62454852	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62454853	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62454854	0.82[EUR][1000 genomes]
rs62454909	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62454911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62454912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62456899	0.83[EUR][1000 genomes]
rs62456903	0.87[EUR][1000 genomes]
rs62456949	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62456952	0.86[EUR][1000 genomes]
rs62456953	0.86[EUR][1000 genomes]
rs6462044	0.80[AMR][1000 genomes]
rs6462045	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs68015840	0.97[EUR][1000 genomes]
rs6945079	0.80[EUR][1000 genomes]
rs6946582	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6960451	0.80[AMR][1000 genomes]
rs6969516	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6970160	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6978979	0.80[EUR][1000 genomes]
rs73073375	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73073377	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73073379	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73073380	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73073387	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73073388	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73073393	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73075112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075307	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73075310	0.80[AMR][1000 genomes]
rs73075311	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73075322	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73075325	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73075329	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73075331	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73075354	0.80[AMR][1000 genomes]
rs73075359	0.80[AMR][1000 genomes]
rs73075361	1.00[AFR][1000 genomes]
rs73075375	1.00[AFR][1000 genomes]
rs73075378	1.00[AFR][1000 genomes]
rs73078776	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73078778	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7456595	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7795207	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7803464	0.82[EUR][1000 genomes]
rs7807729	1.00[AFR][1000 genomes];0.80[AMR][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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27660600-27701000	Weak transcription	Right Ventricle	heart
2	chr7:27661400-27700800	Weak transcription	Thymus	Thymus
3	chr7:27671400-27701600	Weak transcription	Spleen	Spleen
4	chr7:27674000-27700800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:27675000-27700800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:27675400-27701400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:27676000-27701600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:27676200-27701600	Weak transcription	Psoas Muscle	Psoas
9	chr7:27676600-27700600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:27677400-27701400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:27680400-27701000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:27680800-27701200	Weak transcription	Small Intestine	intestine
13	chr7:27681000-27701200	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:27681600-27701400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:27681600-27701400	Weak transcription	Fetal Kidney	kidney
16	chr7:27681800-27700400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:27681800-27700600	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:27681800-27701000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:27681800-27701000	Weak transcription	Pancreas	Pancrea
20	chr7:27681800-27701400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:27681800-27701400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:27681800-27701400	Weak transcription	Fetal Heart	heart
23	chr7:27682000-27700400	Weak transcription	HepG2	liver
24	chr7:27682200-27701400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:27683600-27700600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:27683600-27700600	Weak transcription	NHEK	skin
27	chr7:27683600-27701000	Weak transcription	HMEC	breast
28	chr7:27685400-27700600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:27685400-27701400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:27685400-27701400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:27687000-27700600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:27687000-27701400	Weak transcription	HUVEC	blood vessel
33	chr7:27687000-27701800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:27687200-27701200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:27687400-27701400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr7:27687800-27700800	Weak transcription	Brain Angular Gyrus	brain
37	chr7:27688000-27700800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:27688000-27700800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:27688000-27701200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:27688000-27701600	Weak transcription	Left Ventricle	heart
41	chr7:27688200-27700600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:27688600-27700400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:27688600-27700600	Weak transcription	Brain Anterior Caudate	brain
44	chr7:27688800-27699000	Weak transcription	Fetal Lung	lung
45	chr7:27688800-27700800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:27688800-27700800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr7:27688800-27701200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:27688800-27701400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr7:27688800-27701400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr7:27689000-27698400	Weak transcription	Fetal Intestine Large	intestine

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