Variant report

Variant	rs11253483
Chromosome Location	chr10:918011-918012
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:912748..914379-chr10:915301..918260,2	K562	blood:
2	chr10:916687..920893-chr10:921035..925677,5	K562	blood:
3	chr10:909921..911863-chr10:916783..918577,2	MCF-7	breast:
4	chr10:908934..911082-chr10:916897..919212,2	MCF-7	breast:
5	chr10:914894..917221-chr10:917303..918870,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10128148	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1013505	0.94[YRI][hapmap]
rs10508208	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10904577	0.87[AFR][1000 genomes]
rs11253458	0.87[YRI][hapmap]
rs11253468	0.88[YRI][hapmap]
rs11253475	0.81[YRI][hapmap]
rs11253485	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs11253492	0.87[YRI][hapmap];0.84[AFR][1000 genomes]
rs11253493	0.87[YRI][hapmap];0.84[AFR][1000 genomes]
rs11253494	0.84[YRI][hapmap];0.84[AFR][1000 genomes]
rs11253495	0.93[YRI][hapmap]
rs11812523	0.94[AFR][1000 genomes]
rs11813210	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11813734	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11815185	0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs11816064	0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs11816921	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11817423	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12242982	1.00[ASN][1000 genomes]
rs12244355	0.84[AFR][1000 genomes]
rs12250937	0.88[YRI][hapmap]
rs12254002	0.86[YRI][hapmap];0.92[AFR][1000 genomes]
rs12258388	0.87[AFR][1000 genomes]
rs12260800	0.92[YRI][hapmap];0.87[AFR][1000 genomes]
rs12763396	0.92[YRI][hapmap];0.89[AFR][1000 genomes]
rs12765174	0.82[AFR][1000 genomes]
rs12769431	0.87[AFR][1000 genomes]
rs12769873	0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs12770190	0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs12778891	0.88[AFR][1000 genomes]
rs13377166	0.84[YRI][hapmap]
rs1555899	0.94[YRI][hapmap]
rs17155819	1.00[ASN][1000 genomes]
rs17159970	0.94[YRI][hapmap]
rs17293531	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2050944	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs35567307	0.94[AFR][1000 genomes]
rs35825568	0.82[AFR][1000 genomes]
rs35968821	0.93[AFR][1000 genomes]
rs41289279	1.00[ASN][1000 genomes]
rs60052105	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60804727	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61830929	0.90[AFR][1000 genomes]
rs61830932	0.84[AFR][1000 genomes]
rs66631678	1.00[ASN][1000 genomes]
rs7067865	0.87[YRI][hapmap];0.87[AFR][1000 genomes]
rs7074880	1.00[ASN][1000 genomes]
rs7075492	1.00[ASN][1000 genomes]
rs7077278	0.92[YRI][hapmap]
rs72778215	1.00[ASN][1000 genomes]
rs74117678	1.00[ASN][1000 genomes]
rs870692	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv948602	chr10:708293-944641	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:852200-956400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:870600-959400	Weak transcription	Stomach Mucosa	stomach
3	chr10:886800-924400	Weak transcription	Fetal Brain Male	brain
4	chr10:897200-929600	Strong transcription	Primary T cells from cord blood	blood
5	chr10:899000-932000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr10:899400-920200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr10:899800-931200	Strong transcription	Primary B cells from cord blood	blood
8	chr10:901000-932000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:902000-933200	Strong transcription	Dnd41	blood
10	chr10:903200-922600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:903200-931800	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr10:903600-931800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr10:905000-931600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:905200-931600	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr10:905400-918800	Strong transcription	Primary hematopoietic stem cells	blood
16	chr10:905400-919000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr10:905400-919000	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr10:907600-923600	Weak transcription	Fetal Kidney	kidney
19	chr10:908000-927200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr10:908200-932600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:909200-923400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr10:909400-918200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr10:909400-923600	Weak transcription	Brain Substantia Nigra	brain
24	chr10:909400-923800	Weak transcription	Colon Smooth Muscle	Colon
25	chr10:909800-927200	Weak transcription	Small Intestine	intestine
26	chr10:910200-921400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr10:910200-922400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr10:910200-922600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr10:910200-923400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr10:910200-923800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr10:910200-945800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr10:910400-922200	Weak transcription	Brain Germinal Matrix	brain
33	chr10:910400-924000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr10:910600-918200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr10:911400-921600	Weak transcription	Fetal Brain Female	brain
36	chr10:911600-923000	Weak transcription	Hela-S3	cervix
37	chr10:911600-927600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr10:912200-922400	Strong transcription	K562	blood
39	chr10:914400-918400	Weak transcription	HSMMtube	muscle
40	chr10:914600-919400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr10:914600-919600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr10:914600-922000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr10:914600-931800	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr10:914600-933000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr10:914800-919200	Strong transcription	Fetal Thymus	thymus
46	chr10:914800-919400	Strong transcription	NHEK	skin
47	chr10:914800-923000	Strong transcription	HepG2	liver
48	chr10:915000-919400	Strong transcription	Thymus	Thymus
49	chr10:915000-919600	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr10:915000-920800	Strong transcription	A549	lung

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