Variant report

Variant	rs10431469
Chromosome Location	chr12:82742140-82742141
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:82740793..82742686-chr12:82867625..82869177,2	K562	blood:
2	chr12:82741804..82746481-chr12:82748884..82753039,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133773	Chromatin interaction
ENSG00000127720	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10219540	0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10732677	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10735451	0.81[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10735454	1.00[CEU][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10735455	0.85[YRI][hapmap];0.84[EUR][1000 genomes]
rs10746241	1.00[CEU][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10746243	0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10746247	0.84[EUR][1000 genomes]
rs10746248	0.84[EUR][1000 genomes]
rs10746250	0.84[EUR][1000 genomes]
rs10778891	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10778894	0.84[EUR][1000 genomes]
rs10778897	0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10778903	0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10778904	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10778905	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10778906	0.84[YRI][hapmap];0.80[AFR][1000 genomes]
rs10778908	0.88[YRI][hapmap];0.81[EUR][1000 genomes]
rs10862481	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10862484	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10862485	0.84[EUR][1000 genomes]
rs10862486	0.85[YRI][hapmap];0.84[EUR][1000 genomes]
rs17009470	0.84[EUR][1000 genomes]
rs17719033	0.84[EUR][1000 genomes]
rs17773980	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17775000	0.84[EUR][1000 genomes]
rs17775447	0.84[EUR][1000 genomes]
rs17775501	0.84[EUR][1000 genomes]
rs2068633	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2254688	0.80[YRI][hapmap];0.84[EUR][1000 genomes]
rs2401026	0.84[EUR][1000 genomes]
rs2401027	0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2401032	0.85[YRI][hapmap];0.84[EUR][1000 genomes]
rs2401036	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2401039	0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2401040	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2642015	0.88[YRI][hapmap];0.84[EUR][1000 genomes]
rs2642017	0.84[EUR][1000 genomes]
rs2642018	0.80[YRI][hapmap];0.84[EUR][1000 genomes]
rs2642019	0.80[YRI][hapmap];0.84[EUR][1000 genomes]
rs2717449	0.85[YRI][hapmap]
rs2717459	0.85[YRI][hapmap];0.84[EUR][1000 genomes]
rs2731286	0.85[YRI][hapmap];0.84[EUR][1000 genomes]
rs2731290	0.83[YRI][hapmap]
rs2731291	0.83[YRI][hapmap]
rs2731292	0.85[YRI][hapmap]
rs2731295	0.81[YRI][hapmap]
rs2731297	0.82[EUR][1000 genomes]
rs28626834	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2895910	0.85[YRI][hapmap];0.84[EUR][1000 genomes]
rs2895911	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2895912	0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2895915	0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4143187	0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4143190	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4242864	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4242870	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4257045	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4284465	0.84[EUR][1000 genomes]
rs4296098	0.88[YRI][hapmap];0.84[EUR][1000 genomes]
rs4334093	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4343090	0.88[YRI][hapmap];0.84[EUR][1000 genomes]
rs4356298	0.85[YRI][hapmap];0.84[EUR][1000 genomes]
rs4370996	0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4387422	0.85[YRI][hapmap];0.84[EUR][1000 genomes]
rs4399377	0.87[YRI][hapmap];0.84[EUR][1000 genomes]
rs4417379	0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4460874	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4471506	1.00[CEU][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4483662	1.00[CEU][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4505128	0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4517594	0.89[YRI][hapmap];0.84[EUR][1000 genomes]
rs4540892	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4553425	0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4587790	0.87[YRI][hapmap];0.84[EUR][1000 genomes]
rs4628747	0.85[YRI][hapmap];0.84[EUR][1000 genomes]
rs4882379	0.84[EUR][1000 genomes]
rs4882386	0.84[EUR][1000 genomes]
rs4882389	0.85[YRI][hapmap];0.84[EUR][1000 genomes]
rs4882390	0.85[YRI][hapmap];0.84[EUR][1000 genomes]
rs4882435	0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4882438	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4882541	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs55720165	0.93[EUR][1000 genomes]
rs55887136	0.84[EUR][1000 genomes]
rs56337649	0.84[EUR][1000 genomes]
rs6539669	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7294771	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7294903	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7297164	0.82[YRI][hapmap];0.84[EUR][1000 genomes]
rs7299307	0.82[AFR][1000 genomes]
rs7299616	0.85[YRI][hapmap];0.84[EUR][1000 genomes]
rs7309442	0.84[EUR][1000 genomes]
rs7313975	0.85[YRI][hapmap];0.84[EUR][1000 genomes]
rs7315834	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7316500	0.85[YRI][hapmap];0.84[EUR][1000 genomes]
rs7954460	0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7969953	0.84[EUR][1000 genomes]
rs7977443	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs8181688	0.85[YRI][hapmap];0.84[EUR][1000 genomes]
rs8181705	0.90[YRI][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559539	chr12:82280797-82896218	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1041954	chr12:82314981-83008609	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv541550	chr12:82314981-83008609	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv832471	chr12:82578953-82755360	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv559541	chr12:82715210-83108395	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:82734800-82742200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:82735400-82745200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:82736800-82742200	Weak transcription	Brain Angular Gyrus	brain
4	chr12:82736800-82745000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:82738400-82745200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:82739400-82742600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:82739600-82742800	Weak transcription	Primary B cells from cord blood	blood
8	chr12:82739600-82744000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:82739600-82744000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:82739600-82745000	Weak transcription	Ovary	ovary
11	chr12:82739800-82744600	Weak transcription	Brain Anterior Caudate	brain
12	chr12:82740000-82744000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:82740000-82746000	Weak transcription	Fetal Lung	lung
14	chr12:82740200-82742600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:82740200-82743400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:82740200-82743400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:82740200-82743400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr12:82740200-82744000	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:82740200-82744000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:82740200-82745000	Weak transcription	A549	lung
21	chr12:82740200-82745200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:82740200-82745200	Weak transcription	HSMM	muscle
23	chr12:82740200-82745400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:82740200-82751600	Weak transcription	Gastric	stomach
25	chr12:82740600-82742200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:82740800-82742400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:82740800-82742400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:82740800-82745000	Weak transcription	Fetal Stomach	stomach
29	chr12:82740800-82750000	Weak transcription	Fetal Intestine Small	intestine
30	chr12:82740800-82750000	Weak transcription	Psoas Muscle	Psoas
31	chr12:82741000-82743000	Strong transcription	Left Ventricle	heart
32	chr12:82741000-82745200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:82741000-82749400	Weak transcription	Fetal Brain Male	brain
34	chr12:82741200-82742800	Weak transcription	Brain Substantia Nigra	brain
35	chr12:82741200-82743400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr12:82741200-82744200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:82741200-82745000	Weak transcription	Fetal Intestine Large	intestine
38	chr12:82741200-82745000	Weak transcription	Thymus	Thymus
39	chr12:82741200-82751000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:82741400-82744000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:82741400-82747000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:82741400-82749400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:82741600-82749200	Strong transcription	Adipose Nuclei	Adipose
44	chr12:82741600-82749800	Strong transcription	Primary T cells from cord blood	blood
45	chr12:82741800-82744000	Weak transcription	Fetal Brain Female	brain
46	chr12:82741800-82745000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr12:82741800-82745200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:82741800-82747800	Strong transcription	Brain Hippocampus Middle	brain
49	chr12:82742000-82743600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr12:82742000-82743600	Weak transcription	Monocytes-CD14+_RO01746	blood

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