Variant report

Variant	rs11253518
Chromosome Location	chr10:971600-971601
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:969783..971974-chr10:1038430..1041356,2	K562	blood:
2	chr10:955284..957834-chr10:971133..973147,2	K562	blood:
3	chr10:969504..972308-chr10:1100615..1103813,3	MCF-7	breast:
4	chr10:967396..974147-chr10:1032852..1035834,6	MCF-7	breast:
5	chr10:950294..953048-chr10:969646..972009,2	K562	blood:

Variant related genes	Relation type
ENSG00000107937	Chromatin interaction
ENSG00000047056	Chromatin interaction
ENSG00000205740	Chromatin interaction

Extended variants
information (count: 162 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:144)

rs_ID	r²[population]
rs1013504	1.00[ASN][1000 genomes]
rs10903358	1.00[ASN][1000 genomes]
rs10904555	1.00[ASN][1000 genomes]
rs10904556	1.00[ASN][1000 genomes]
rs10904557	1.00[ASN][1000 genomes]
rs10904558	1.00[ASN][1000 genomes]
rs10904564	1.00[ASN][1000 genomes]
rs10904565	1.00[ASN][1000 genomes]
rs10904566	1.00[ASN][1000 genomes]
rs11253388	1.00[ASN][1000 genomes]
rs11253390	1.00[ASN][1000 genomes]
rs11253391	1.00[ASN][1000 genomes]
rs11253392	1.00[ASN][1000 genomes]
rs11253393	1.00[ASN][1000 genomes]
rs11253394	1.00[ASN][1000 genomes]
rs11253395	1.00[ASN][1000 genomes]
rs11253396	1.00[ASN][1000 genomes]
rs11253397	1.00[ASN][1000 genomes]
rs11253398	1.00[ASN][1000 genomes]
rs11253399	1.00[ASN][1000 genomes]
rs11253401	1.00[ASN][1000 genomes]
rs11253403	1.00[ASN][1000 genomes]
rs11253414	1.00[ASN][1000 genomes]
rs11253419	1.00[ASN][1000 genomes]
rs11253420	1.00[ASN][1000 genomes]
rs11253421	1.00[ASN][1000 genomes]
rs11253424	1.00[ASN][1000 genomes]
rs11253425	1.00[ASN][1000 genomes]
rs11253430	1.00[ASN][1000 genomes]
rs11253434	1.00[ASN][1000 genomes]
rs11253435	1.00[ASN][1000 genomes]
rs11253440	1.00[ASN][1000 genomes]
rs11253441	1.00[ASN][1000 genomes]
rs11253504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253530	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253537	1.00[ASN][1000 genomes]
rs11253538	1.00[ASN][1000 genomes]
rs11253539	1.00[ASN][1000 genomes]
rs11253540	1.00[ASN][1000 genomes]
rs11253549	1.00[ASN][1000 genomes]
rs11253550	1.00[ASN][1000 genomes]
rs11253557	1.00[ASN][1000 genomes]
rs11253558	1.00[ASN][1000 genomes]
rs11253559	1.00[ASN][1000 genomes]
rs11253560	1.00[ASN][1000 genomes]
rs11595057	1.00[ASN][1000 genomes]
rs11595385	1.00[ASN][1000 genomes]
rs12354914	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12356155	1.00[ASN][1000 genomes]
rs12356612	1.00[ASN][1000 genomes]
rs12357633	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12358255	1.00[ASN][1000 genomes]
rs12359796	1.00[ASN][1000 genomes]
rs1250891	1.00[ASN][1000 genomes]
rs12761180	1.00[ASN][1000 genomes]
rs12762228	1.00[ASN][1000 genomes]
rs12765343	1.00[ASN][1000 genomes]
rs12767043	1.00[ASN][1000 genomes]
rs12767062	1.00[ASN][1000 genomes]
rs12767287	1.00[ASN][1000 genomes]
rs12768348	1.00[ASN][1000 genomes]
rs12769002	1.00[ASN][1000 genomes]
rs12770173	1.00[ASN][1000 genomes]
rs12771179	1.00[ASN][1000 genomes]
rs12771539	1.00[ASN][1000 genomes]
rs12771845	1.00[ASN][1000 genomes]
rs12772979	1.00[ASN][1000 genomes]
rs12773961	1.00[ASN][1000 genomes]
rs12774985	1.00[ASN][1000 genomes]
rs12776447	1.00[ASN][1000 genomes]
rs12777021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12777800	1.00[ASN][1000 genomes]
rs12777801	1.00[ASN][1000 genomes]
rs12778271	1.00[ASN][1000 genomes]
rs12781100	1.00[ASN][1000 genomes]
rs12781329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12782936	1.00[ASN][1000 genomes]
rs1536336	1.00[ASN][1000 genomes]
rs17221456	1.00[ASN][1000 genomes]
rs17221463	1.00[ASN][1000 genomes]
rs17221491	1.00[ASN][1000 genomes]
rs17293580	1.00[ASN][1000 genomes]
rs17293608	1.00[ASN][1000 genomes]
rs1769242	1.00[ASN][1000 genomes]
rs1871621	1.00[ASN][1000 genomes]
rs1871622	1.00[ASN][1000 genomes]
rs2253475	1.00[ASN][1000 genomes]
rs2265529	1.00[ASN][1000 genomes]
rs2265530	1.00[ASN][1000 genomes]
rs2486579	1.00[ASN][1000 genomes]
rs2766013	1.00[ASN][1000 genomes]
rs2790388	1.00[ASN][1000 genomes]
rs28512382	1.00[ASN][1000 genomes]
rs34115136	1.00[ASN][1000 genomes]
rs34159706	1.00[ASN][1000 genomes]
rs34251037	1.00[ASN][1000 genomes]
rs34270668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34318754	1.00[ASN][1000 genomes]
rs34383514	1.00[ASN][1000 genomes]
rs34480046	1.00[ASN][1000 genomes]
rs34487581	1.00[ASN][1000 genomes]
rs34527494	1.00[ASN][1000 genomes]
rs34778553	1.00[ASN][1000 genomes]
rs34848170	1.00[ASN][1000 genomes]
rs34885925	1.00[ASN][1000 genomes]
rs34982663	1.00[ASN][1000 genomes]
rs35028518	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35306767	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35342920	1.00[ASN][1000 genomes]
rs35363972	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35443149	1.00[ASN][1000 genomes]
rs35666723	1.00[ASN][1000 genomes]
rs35667562	1.00[ASN][1000 genomes]
rs35670857	1.00[ASN][1000 genomes]
rs35709890	1.00[ASN][1000 genomes]
rs35957139	1.00[ASN][1000 genomes]
rs35967867	1.00[ASN][1000 genomes]
rs41260144	1.00[ASN][1000 genomes]
rs55697724	1.00[ASN][1000 genomes]
rs55708963	1.00[ASN][1000 genomes]
rs55742421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56222464	1.00[ASN][1000 genomes]
rs61830900	1.00[ASN][1000 genomes]
rs61830926	1.00[ASN][1000 genomes]
rs61830931	1.00[ASN][1000 genomes]
rs61830933	1.00[ASN][1000 genomes]
rs61831436	1.00[ASN][1000 genomes]
rs61833260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61833265	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66462130	1.00[ASN][1000 genomes]
rs66797613	1.00[ASN][1000 genomes]
rs67205460	1.00[ASN][1000 genomes]
rs67696450	1.00[ASN][1000 genomes]
rs7070876	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7071974	1.00[ASN][1000 genomes]
rs7071982	1.00[ASN][1000 genomes]
rs7072970	1.00[ASN][1000 genomes]
rs7085476	1.00[ASN][1000 genomes]
rs7088956	1.00[ASN][1000 genomes]
rs7092353	1.00[ASN][1000 genomes]
rs7093665	1.00[ASN][1000 genomes]
rs7094031	1.00[ASN][1000 genomes]
rs72778228	1.00[ASN][1000 genomes]
rs7914758	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916591	chr10:224406-1088734	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS 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	38 gene(s)	inside rSNPs	diseases
2	nsv540386	chr10:224406-1197416	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1054659	chr10:611444-1133578	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv949063	chr10:708293-974870	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv466697	chr10:734229-1129527	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv549765	chr10:734229-1129527	Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv1043812	chr10:776547-981126	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv540406	chr10:776547-981126	Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv530116	chr10:776548-1401075	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv948978	chr10:813426-1019115	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1052540	chr10:887562-1300134	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
12	nsv540407	chr10:887562-1300134	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv533861	chr10:945438-1382068	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
14	nsv530117	chr10:945438-1729634	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
15	nsv540408	chr10:955835-1260680	Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
16	nsv825207	chr10:957020-1005451	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	nsv817532	chr10:964660-1885945	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
18	nsv825208	chr10:965883-1004836	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:927600-972600	Weak transcription	Hela-S3	cervix
2	chr10:929400-975800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:929400-976400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr10:947800-975400	Weak transcription	Fetal Brain Male	brain
5	chr10:949600-974600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr10:951000-975400	Weak transcription	Fetal Kidney	kidney
7	chr10:952600-975400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:953000-974400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:954600-975000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr10:954800-973600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr10:955000-974600	Weak transcription	Colonic Mucosa	Colon
12	chr10:956200-972400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:956800-975400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr10:956800-975600	Weak transcription	Fetal Brain Female	brain
15	chr10:956800-976400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:957600-975200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr10:958000-972000	Weak transcription	HUVEC	blood vessel
18	chr10:958000-972600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr10:958000-975600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr10:958200-974000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr10:958200-974200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr10:959400-973200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr10:965800-976200	Weak transcription	Aorta	Aorta
24	chr10:966200-972000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr10:966200-975000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr10:966800-974400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr10:967000-972600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr10:967400-972400	Strong transcription	Dnd41	blood
29	chr10:967400-973200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:967600-972800	Strong transcription	Fetal Thymus	thymus
31	chr10:968000-972400	Weak transcription	Esophagus	oesophagus
32	chr10:968000-973000	Strong transcription	Fetal Stomach	stomach
33	chr10:968000-973600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:968000-974400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr10:968000-975800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr10:968200-972000	Weak transcription	Fetal Lung	lung
37	chr10:968200-972600	Strong transcription	Primary B cells from cord blood	blood
38	chr10:968200-974200	Weak transcription	Colon Smooth Muscle	Colon
39	chr10:968400-971800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr10:968400-972000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr10:968400-972400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr10:968400-972400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr10:968400-972400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr10:968400-972400	Weak transcription	Right Atrium	heart
45	chr10:968400-974400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr10:968400-975000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr10:968400-975200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr10:968400-975800	Weak transcription	NH-A	brain
49	chr10:968600-972000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr10:969000-972800	Genic enhancers	Primary T helper cells fromperipheralblood	blood

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