Variant report

Variant	rs11238530
Chromosome Location	chr10:43877075-43877076
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43872190..43874613-chr10:43876662..43879551,2	MCF-7	breast:
2	chr10:43871509..43873780-chr10:43874816..43877105,2	K562	blood:
3	chr10:43803844..43805693-chr10:43875587..43878080,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10409	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10466239	0.88[ASN][1000 genomes]
rs10899791	0.94[ASN][1000 genomes]
rs10899793	0.94[ASN][1000 genomes]
rs10899794	0.90[JPT][hapmap]
rs10899796	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899797	0.84[JPT][hapmap]
rs10899800	0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10899801	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10899802	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10899803	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10899806	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10899807	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10899808	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11238525	0.92[ASN][1000 genomes]
rs11238526	0.81[ASN][1000 genomes]
rs11238532	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11238536	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11238553	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes]
rs11238558	1.00[AMR][1000 genomes]
rs11238572	0.84[AMR][1000 genomes]
rs11525297	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11814409	0.93[CHB][hapmap]
rs11815101	1.00[CEU][hapmap];0.96[AMR][1000 genomes]
rs12217904	0.81[ASN][1000 genomes]
rs12220230	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12220528	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12245541	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12250140	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12254798	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12261855	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12262836	0.84[AMR][1000 genomes]
rs13376803	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13376924	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17153534	0.94[ASN][1000 genomes]
rs1879312	0.80[ASN][1000 genomes]
rs2247979	0.84[JPT][hapmap]
rs2247981	0.84[JPT][hapmap]
rs2250444	0.84[JPT][hapmap]
rs2261636	0.84[JPT][hapmap]
rs28865415	0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4648316	0.94[ASN][1000 genomes]
rs4948726	0.84[JPT][hapmap]
rs56198445	0.88[ASN][1000 genomes]
rs59383062	0.94[ASN][1000 genomes]
rs6593513	0.85[JPT][hapmap]
rs7099802	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7905676	0.84[JPT][hapmap]
rs7907179	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7921001	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
6	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43858600-43891000	Weak transcription	Right Atrium	heart
2	chr10:43869000-43880400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr10:43869200-43882000	Weak transcription	Left Ventricle	heart
4	chr10:43869400-43880200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:43869800-43878600	Weak transcription	A549	lung
6	chr10:43870000-43881200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr10:43870000-43882000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:43870200-43881000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr10:43870200-43882000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr10:43870200-43882000	Weak transcription	Brain Substantia Nigra	brain
11	chr10:43870400-43880000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr10:43870400-43881000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr10:43870400-43881600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr10:43870400-43882000	Weak transcription	Brain Angular Gyrus	brain
15	chr10:43871000-43880400	Weak transcription	Brain Anterior Caudate	brain
16	chr10:43871200-43881600	Weak transcription	Brain Hippocampus Middle	brain
17	chr10:43871400-43880800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr10:43871600-43880000	Weak transcription	Fetal Muscle Leg	muscle
19	chr10:43871800-43879600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr10:43872200-43880200	Weak transcription	Lung	lung
21	chr10:43872600-43881000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr10:43873200-43878400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:43873200-43880200	Weak transcription	Gastric	stomach
24	chr10:43873200-43880600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr10:43873200-43881200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr10:43873200-43890200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr10:43873400-43878600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:43873400-43880800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr10:43873400-43881000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr10:43873400-43881000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr10:43873400-43881000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:43873400-43881200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr10:43873400-43881400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr10:43873400-43881800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr10:43873400-43882000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr10:43873400-43891000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr10:43873600-43878600	Weak transcription	Fetal Intestine Small	intestine
38	chr10:43873600-43878800	Weak transcription	Fetal Intestine Large	intestine
39	chr10:43873800-43878600	Weak transcription	Placenta	Placenta
40	chr10:43873800-43881000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr10:43873800-43881000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr10:43873800-43882000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr10:43873800-43882000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr10:43874400-43882400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr10:43874600-43878600	Weak transcription	HepG2	liver
46	chr10:43876000-43879600	Weak transcription	Fetal Stomach	stomach
47	chr10:43876000-43881800	Weak transcription	Colon Smooth Muscle	Colon
48	chr10:43876200-43880000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr10:43876600-43880200	Weak transcription	Dnd41	blood
50	chr10:43876600-43880400	Weak transcription	Hela-S3	cervix

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