Variant report

Variant	rs12240651
Chromosome Location	chr10:943656-943657
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:942466..945126-chr10:947752..949866,3	K562	blood:
2	chr10:941309..944109-chr10:975818..977931,2	K562	blood:
3	chr10:942666..945104-chr10:1034510..1036393,2	MCF-7	breast:
4	chr10:936128..938846-chr10:942658..944551,2	K562	blood:
5	chr10:942466..944301-chr10:947752..949703,2	K562	blood:
6	chr10:942466..944024-chr10:1101095..1103951,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107937	Chromatin interaction
ENSG00000107929	Chromatin interaction
ENSG00000047056	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1013505	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10508208	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10904577	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10904580	1.00[ASN][1000 genomes]
rs10904581	1.00[ASN][1000 genomes]
rs10904583	1.00[ASN][1000 genomes]
rs10904584	1.00[ASN][1000 genomes]
rs1106064	1.00[ASN][1000 genomes]
rs11253458	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253459	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11253460	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253462	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11253465	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253467	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253468	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253473	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253475	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253485	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253488	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253492	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253493	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253494	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253495	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11253499	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253509	1.00[ASN][1000 genomes]
rs11253511	1.00[ASN][1000 genomes]
rs11253513	1.00[ASN][1000 genomes]
rs11253517	1.00[ASN][1000 genomes]
rs11253520	1.00[ASN][1000 genomes]
rs11253521	1.00[ASN][1000 genomes]
rs11812170	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11812523	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11813210	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11815185	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11816064	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11817793	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11818288	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11818325	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12244253	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12244355	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12249634	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12249828	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12250936	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12250937	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12251396	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12254002	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12258388	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12259338	1.00[ASN][1000 genomes]
rs12259720	1.00[ASN][1000 genomes]
rs12259801	1.00[ASN][1000 genomes]
rs12260800	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12261911	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12264390	1.00[ASN][1000 genomes]
rs12264711	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12267709	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12354639	1.00[ASN][1000 genomes]
rs12359645	1.00[ASN][1000 genomes]
rs12360270	1.00[ASN][1000 genomes]
rs12761424	1.00[ASN][1000 genomes]
rs12762973	1.00[ASN][1000 genomes]
rs12763396	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12764024	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12765174	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12766381	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12769002	0.80[EUR][1000 genomes]
rs12769431	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12769873	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12770190	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12778891	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12783472	1.00[ASN][1000 genomes]
rs13377166	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1341741	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1341742	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1539174	1.00[ASN][1000 genomes]
rs1555899	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159950	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159970	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2050944	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34254874	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34270014	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34284130	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34405399	1.00[ASN][1000 genomes]
rs34433840	1.00[ASN][1000 genomes]
rs34847097	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35174953	1.00[ASN][1000 genomes]
rs35394603	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35567307	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35637113	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35693858	1.00[ASN][1000 genomes]
rs35825568	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35968821	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522091	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55708963	0.80[EUR][1000 genomes]
rs56318703	1.00[ASN][1000 genomes]
rs56347655	1.00[ASN][1000 genomes]
rs61830929	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61830931	0.80[EUR][1000 genomes]
rs61830932	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66631678	0.94[AMR][1000 genomes]
rs7067865	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7074642	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7077278	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72778215	0.94[AMR][1000 genomes]
rs72778228	0.80[EUR][1000 genomes]
rs72778229	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765867	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7908138	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
14	esv1817165	chr10:929133-944641	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 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	chr10:910200-945800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr10:925400-950800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:927600-972600	Weak transcription	Hela-S3	cervix
6	chr10:928000-947200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr10:928000-951600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:928000-954200	Weak transcription	Brain Germinal Matrix	brain
9	chr10:928000-954200	Weak transcription	Fetal Brain Female	brain
10	chr10:928000-963200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr10:928000-966400	Weak transcription	Small Intestine	intestine
12	chr10:929000-944200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr10:929000-950600	Weak transcription	Fetal Kidney	kidney
14	chr10:929000-952200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr10:929200-944200	Weak transcription	Brain Substantia Nigra	brain
16	chr10:929200-952200	Weak transcription	Fetal Muscle Leg	muscle
17	chr10:929400-955800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:929400-975800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr10:929400-976400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr10:929800-951600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr10:929800-954200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr10:930000-954400	Weak transcription	Colonic Mucosa	Colon
23	chr10:930600-945200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr10:930600-949000	Weak transcription	HUVEC	blood vessel
25	chr10:930600-952400	Weak transcription	HMEC	breast
26	chr10:930600-953600	Weak transcription	NH-A	brain
27	chr10:930800-949000	Weak transcription	Osteobl	bone
28	chr10:930800-953600	Weak transcription	NHDF-Ad	bronchial
29	chr10:931200-949000	Weak transcription	NHLF	lung
30	chr10:931200-952200	Weak transcription	Primary B cells from cord blood	blood
31	chr10:931400-949000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr10:931400-952400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr10:931400-953200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr10:931400-956000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr10:931600-944600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr10:931600-948800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr10:931600-949000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr10:931600-949000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr10:931600-949000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr10:931600-951800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr10:931600-952400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr10:931600-953600	Weak transcription	Fetal Thymus	thymus
43	chr10:931600-965400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr10:931600-967400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr10:931800-947200	Weak transcription	Fetal Lung	lung
46	chr10:931800-948000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr10:931800-948200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr10:931800-948800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr10:931800-949000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr10:931800-949000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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