Variant report

Variant	rs10224463
Chromosome Location	chr7:124536913-124536914
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	chr7:124534351..124537236-chr7:124567413..124569702,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10225552	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10226033	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10228201	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10230610	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10233385	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10233596	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10240673	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10241173	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10244817	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10246424	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10249722	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10253613	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10264060	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10265763	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10271646	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10281582	0.85[ASN][1000 genomes]
rs10464529	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12111865	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1541416	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1541418	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17246404	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2107939	0.87[ASN][1000 genomes]
rs2239532	0.81[ASN][1000 genomes]
rs2286175	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2402751	0.87[ASN][1000 genomes]
rs2402752	0.89[ASN][1000 genomes]
rs28523990	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28622327	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28638102	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28728448	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28844358	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34986416	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36045816	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3925331	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4473974	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4532534	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55964341	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56313563	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56321835	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56356267	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56387611	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59294613	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59670428	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66492217	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66513837	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66526112	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66665074	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66922607	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67084428	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67146030	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67552763	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67585224	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67870530	0.81[EUR][1000 genomes]
rs67939974	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68007199	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68091803	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6943653	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6952721	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6971909	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs720613	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs720614	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs722560	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs727505	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7777947	0.89[ASN][1000 genomes]
rs7790856	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7791430	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7795943	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7801661	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7806680	0.89[ASN][1000 genomes]
rs9655845	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs989177	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv889134	chr7:124462081-124552802	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv889135	chr7:124462081-124584834	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv464707	chr7:124486980-124572288	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv608341	chr7:124486980-124572288	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv889136	chr7:124492038-124552802	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1829082	chr7:124503189-124556473	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv889137	chr7:124513770-124584834	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv889138	chr7:124518766-124584834	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	esv2756137	chr7:124521049-124558049	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124462200-124568200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr7:124466400-124540800	Weak transcription	Right Ventricle	heart
3	chr7:124466400-124562200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:124466600-124563400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:124466800-124540800	Weak transcription	Gastric	stomach
6	chr7:124484200-124554400	Weak transcription	HUVEC	blood vessel
7	chr7:124490800-124540600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:124498200-124568800	Weak transcription	Brain Anterior Caudate	brain
9	chr7:124506600-124540600	Weak transcription	Aorta	Aorta
10	chr7:124506800-124540600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:124522800-124568400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:124527200-124537400	Weak transcription	HMEC	breast
13	chr7:124527600-124562200	Weak transcription	A549	lung
14	chr7:124527600-124569000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:124527600-124569000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr7:124527800-124540400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:124527800-124540800	Weak transcription	Placenta	Placenta
18	chr7:124528000-124567400	Weak transcription	HepG2	liver
19	chr7:124528400-124542800	Weak transcription	Spleen	Spleen
20	chr7:124528600-124538800	Weak transcription	Brain Germinal Matrix	brain
21	chr7:124528800-124540400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:124529200-124542800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:124529800-124553400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:124529800-124564400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr7:124530000-124540800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:124530000-124569000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:124530200-124540600	Weak transcription	Fetal Muscle Leg	muscle
28	chr7:124530400-124540600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:124531000-124542600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:124531200-124540600	Weak transcription	Left Ventricle	heart
31	chr7:124531400-124540600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr7:124531400-124540600	Weak transcription	Fetal Intestine Large	intestine
33	chr7:124531400-124540800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr7:124531400-124559800	Weak transcription	Ovary	ovary
35	chr7:124531600-124540800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:124531800-124540600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr7:124532000-124540600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:124532000-124569000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr7:124532200-124540600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:124532200-124540800	Weak transcription	Adipose Nuclei	Adipose
41	chr7:124532400-124537000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:124532400-124537000	Weak transcription	Fetal Lung	lung
43	chr7:124532400-124538600	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr7:124532400-124540400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:124532400-124540600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:124532400-124540600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:124532400-124540600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:124532600-124537000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr7:124532600-124552400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr7:124532600-124562600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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