Variant report

Variant	rs10246424
Chromosome Location	chr7:124494861-124494862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:123383491..123385633-chr7:124494665..124496750,2	K562	blood:
2	chr7:124482329..124484831-chr7:124493791..124496248,2	K562	blood:
3	chr7:124481779..124483829-chr7:124493463..124496248,2	K562	blood:

Variant related genes	Relation type
ENSG00000128513	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10224463	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10225552	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10226033	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10228201	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10230610	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10233385	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10233596	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10240673	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10241173	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10244817	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10249722	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10253613	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10264060	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10265763	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10268372	0.81[ASN][1000 genomes]
rs10271646	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10281582	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10464529	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12111865	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1541416	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1541418	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17246404	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2107939	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2239532	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2286175	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2402751	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2402752	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28523990	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28622327	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28638102	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28728448	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28844358	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34986416	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36045816	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3925331	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4473974	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4532534	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55964341	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56313563	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56321835	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56356267	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56387611	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59237623	0.81[AMR][1000 genomes]
rs59294613	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59670428	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66492217	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66513837	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66526112	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66665074	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66922607	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67084428	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67146030	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67552763	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67585224	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67939974	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68007199	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68091803	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6943653	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6952721	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6971909	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs720613	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs720614	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs722560	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs727505	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7777947	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7790856	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7791430	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7795943	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7801661	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7806680	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9655845	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs988699	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs989177	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv1792357	chr7:124470044-124506088	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124454400-124497600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:124454600-124501400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:124457600-124497600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:124459000-124497800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:124459200-124497600	Weak transcription	Pancreas	Pancrea
6	chr7:124459200-124499400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:124459400-124497600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:124459400-124497600	Weak transcription	Brain Anterior Caudate	brain
9	chr7:124461000-124499200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:124461000-124499600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:124461400-124530800	Weak transcription	NHDF-Ad	bronchial
12	chr7:124461600-124499800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr7:124462200-124495000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:124462200-124498200	Weak transcription	Psoas Muscle	Psoas
15	chr7:124462200-124510200	Weak transcription	Brain Angular Gyrus	brain
16	chr7:124462200-124568200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:124462400-124497400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:124462600-124504000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:124464000-124506400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:124464000-124510400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:124464200-124519400	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:124464400-124497200	Weak transcription	Brain Germinal Matrix	brain
23	chr7:124464400-124497600	Weak transcription	Lung	lung
24	chr7:124464400-124508800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:124464600-124530600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:124466400-124497600	Weak transcription	Fetal Thymus	thymus
27	chr7:124466400-124497600	Weak transcription	Spleen	Spleen
28	chr7:124466400-124540800	Weak transcription	Right Ventricle	heart
29	chr7:124466400-124562200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:124466600-124563400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr7:124466800-124497600	Weak transcription	Aorta	Aorta
32	chr7:124466800-124497800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr7:124466800-124540800	Weak transcription	Gastric	stomach
34	chr7:124467000-124497400	Weak transcription	Ovary	ovary
35	chr7:124467000-124508200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr7:124467400-124497400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr7:124467600-124530600	Weak transcription	NH-A	brain
38	chr7:124467800-124510600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr7:124474200-124509600	Weak transcription	HMEC	breast
40	chr7:124475400-124497400	Weak transcription	Thymus	Thymus
41	chr7:124475400-124497600	Weak transcription	Left Ventricle	heart
42	chr7:124475400-124506000	Weak transcription	Fetal Kidney	kidney
43	chr7:124475400-124506000	Weak transcription	Fetal Lung	lung
44	chr7:124475400-124511400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:124477000-124530800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr7:124480600-124497600	Weak transcription	Fetal Intestine Large	intestine
47	chr7:124482200-124497400	Weak transcription	Fetal Brain Female	brain
48	chr7:124482400-124508200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr7:124482400-124508600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:124483400-124497000	Weak transcription	A549	lung

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