Variant report

Variant	rs11253513
Chromosome Location	chr10:968450-968451
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:968194..970356-chr10:1031851..1035420,3	K562	blood:
2	chr10:968239..971005-chr10:1062615..1065271,2	MCF-7	breast:
3	chr10:949389..951942-chr10:967681..970288,3	MCF-7	breast:
4	chr10:957384..959889-chr10:967554..970347,2	MCF-7	breast:
5	chr10:967396..974147-chr10:1032852..1035834,6	MCF-7	breast:
6	chr10:964099..966900-chr10:967663..969499,2	MCF-7	breast:
7	chr10:918982..920486-chr10:966895..969764,2	K562	blood:

Variant related genes	Relation type
ENSG00000107937	Chromatin interaction
ENSG00000107929	Chromatin interaction
ENSG00000205740	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1013505	1.00[ASN][1000 genomes]
rs10508208	1.00[ASN][1000 genomes]
rs10904577	1.00[ASN][1000 genomes]
rs10904580	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10904581	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10904583	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10904584	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1106064	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253458	1.00[ASN][1000 genomes]
rs11253460	1.00[ASN][1000 genomes]
rs11253465	1.00[ASN][1000 genomes]
rs11253467	1.00[ASN][1000 genomes]
rs11253468	1.00[ASN][1000 genomes]
rs11253473	1.00[ASN][1000 genomes]
rs11253475	1.00[ASN][1000 genomes]
rs11253485	1.00[ASN][1000 genomes]
rs11253488	1.00[ASN][1000 genomes]
rs11253492	1.00[ASN][1000 genomes]
rs11253493	1.00[ASN][1000 genomes]
rs11253494	1.00[ASN][1000 genomes]
rs11253499	1.00[ASN][1000 genomes]
rs11253509	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253511	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253517	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253520	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253521	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11812170	1.00[ASN][1000 genomes]
rs11812523	1.00[ASN][1000 genomes]
rs11813210	1.00[ASN][1000 genomes]
rs11815185	1.00[ASN][1000 genomes]
rs11816064	1.00[ASN][1000 genomes]
rs11817793	1.00[ASN][1000 genomes]
rs11818288	1.00[ASN][1000 genomes]
rs11818325	1.00[ASN][1000 genomes]
rs12240651	1.00[ASN][1000 genomes]
rs12244253	1.00[ASN][1000 genomes]
rs12244355	1.00[ASN][1000 genomes]
rs12249634	1.00[ASN][1000 genomes]
rs12249828	1.00[ASN][1000 genomes]
rs12250936	1.00[ASN][1000 genomes]
rs12250937	1.00[ASN][1000 genomes]
rs12251396	1.00[ASN][1000 genomes]
rs12254002	1.00[ASN][1000 genomes]
rs12258388	1.00[ASN][1000 genomes]
rs12259338	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12259720	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12259801	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12260800	1.00[ASN][1000 genomes]
rs12261911	1.00[ASN][1000 genomes]
rs12264390	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12264711	1.00[ASN][1000 genomes]
rs12267709	1.00[ASN][1000 genomes]
rs12354639	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12359645	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12360270	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12761424	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12762973	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12763396	1.00[ASN][1000 genomes]
rs12764024	1.00[ASN][1000 genomes]
rs12765174	1.00[ASN][1000 genomes]
rs12766381	1.00[ASN][1000 genomes]
rs12769431	1.00[ASN][1000 genomes]
rs12769873	1.00[ASN][1000 genomes]
rs12770190	1.00[ASN][1000 genomes]
rs12778891	1.00[ASN][1000 genomes]
rs12783472	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13377166	1.00[ASN][1000 genomes]
rs1341742	1.00[ASN][1000 genomes]
rs1539174	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555899	1.00[ASN][1000 genomes]
rs17159950	1.00[ASN][1000 genomes]
rs17159970	1.00[ASN][1000 genomes]
rs2050944	1.00[ASN][1000 genomes]
rs34254874	1.00[ASN][1000 genomes]
rs34270014	1.00[ASN][1000 genomes]
rs34284130	1.00[ASN][1000 genomes]
rs34405399	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34433840	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34847097	1.00[ASN][1000 genomes]
rs35174953	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35394603	1.00[ASN][1000 genomes]
rs35567307	1.00[ASN][1000 genomes]
rs35637113	1.00[ASN][1000 genomes]
rs35693858	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35825568	1.00[ASN][1000 genomes]
rs35968821	1.00[ASN][1000 genomes]
rs4522091	1.00[ASN][1000 genomes]
rs56318703	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56347655	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61830929	1.00[ASN][1000 genomes]
rs61830932	1.00[ASN][1000 genomes]
rs7067865	1.00[ASN][1000 genomes]
rs7074642	1.00[ASN][1000 genomes]
rs7077278	1.00[ASN][1000 genomes]
rs72778229	1.00[ASN][1000 genomes]
rs765867	1.00[ASN][1000 genomes]
rs7908138	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];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:125 , 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	chr10:940000-970200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr10:947800-975400	Weak transcription	Fetal Brain Male	brain
6	chr10:949600-974600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr10:951000-975400	Weak transcription	Fetal Kidney	kidney
8	chr10:952600-971000	Weak transcription	Brain Substantia Nigra	brain
9	chr10:952600-975400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr10:953000-974400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:954600-975000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr10:954800-973600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr10:955000-974600	Weak transcription	Colonic Mucosa	Colon
14	chr10:956200-972400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:956800-970000	Weak transcription	Brain Germinal Matrix	brain
16	chr10:956800-975400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr10:956800-975600	Weak transcription	Fetal Brain Female	brain
18	chr10:956800-976400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:957000-970600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr10:957600-975200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr10:957800-970000	Weak transcription	Brain Anterior Caudate	brain
22	chr10:958000-970400	Weak transcription	Spleen	Spleen
23	chr10:958000-972000	Weak transcription	HUVEC	blood vessel
24	chr10:958000-972600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr10:958000-975600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr10:958200-974000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr10:958200-974200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr10:958600-970400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr10:959400-973200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr10:964200-970400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr10:964200-970600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr10:964400-970000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr10:965800-969000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr10:965800-969200	Weak transcription	Primary T cells from cord blood	blood
35	chr10:965800-976200	Weak transcription	Aorta	Aorta
36	chr10:966000-971000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr10:966200-972000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr10:966200-975000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr10:966800-970000	Weak transcription	Small Intestine	intestine
40	chr10:966800-974400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr10:967000-972600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr10:967400-968600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr10:967400-968600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr10:967400-968600	Enhancers	Ovary	ovary
45	chr10:967400-969000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr10:967400-969200	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr10:967400-970600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr10:967400-972400	Strong transcription	Dnd41	blood
49	chr10:967400-973200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:967600-969200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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