Variant report

Variant	rs1230656
Chromosome Location	chr1:114222516-114222517
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113933524..113935646-chr1:114221508..114224251,2	MCF-7	breast:
2	chr1:114221190..114223803-chr1:114226200..114229279,3	MCF-7	breast:
3	chr1:114222246..114224526-chr1:114245061..114247466,2	K562	blood:

Variant related genes	Relation type
ENSG00000081026	Chromatin interaction

Extended variants
information (count: 149 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs10745339	0.82[ASN][1000 genomes]
rs10858000	0.82[ASN][1000 genomes]
rs10858001	0.81[ASN][1000 genomes]
rs10858002	0.80[ASN][1000 genomes]
rs10858005	0.86[ASN][1000 genomes]
rs10858007	0.86[ASN][1000 genomes]
rs10858008	0.84[ASN][1000 genomes]
rs10858011	0.89[ASN][1000 genomes]
rs10858017	0.82[EUR][1000 genomes]
rs10858018	0.81[EUR][1000 genomes]
rs10858019	0.82[EUR][1000 genomes]
rs11102648	0.82[ASN][1000 genomes]
rs11102649	0.82[ASN][1000 genomes]
rs11102651	0.82[ASN][1000 genomes]
rs11102652	0.85[ASN][1000 genomes]
rs11102653	0.84[ASN][1000 genomes]
rs11102654	0.86[ASN][1000 genomes]
rs11102657	0.81[ASN][1000 genomes]
rs11102658	0.83[ASN][1000 genomes]
rs11102661	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11102669	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1113523	0.88[ASN][1000 genomes]
rs1146182	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1146187	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12021513	0.85[ASN][1000 genomes]
rs12035317	0.85[ASN][1000 genomes]
rs12037873	0.84[ASN][1000 genomes]
rs12039224	0.85[ASN][1000 genomes]
rs12041547	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12043639	0.83[ASN][1000 genomes]
rs12044534	0.82[EUR][1000 genomes]
rs12061482	0.82[EUR][1000 genomes]
rs12063216	0.82[EUR][1000 genomes]
rs12074958	0.85[ASN][1000 genomes]
rs12077419	0.86[ASN][1000 genomes]
rs1217192	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217193	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1217199	0.90[ASN][1000 genomes]
rs1217200	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1217201	0.86[ASN][1000 genomes]
rs1217203	0.86[ASN][1000 genomes]
rs1217204	0.86[ASN][1000 genomes]
rs1217208	0.89[ASN][1000 genomes]
rs1217210	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1217211	0.89[ASN][1000 genomes]
rs1217214	0.88[ASN][1000 genomes]
rs1217215	0.89[ASN][1000 genomes]
rs1217221	0.81[ASN][1000 genomes]
rs1217223	0.89[ASN][1000 genomes]
rs1217226	0.89[ASN][1000 genomes]
rs1217227	0.89[ASN][1000 genomes]
rs1217228	0.88[ASN][1000 genomes]
rs1217230	0.90[ASN][1000 genomes]
rs1217232	0.89[ASN][1000 genomes]
rs1217233	0.89[ASN][1000 genomes]
rs1217234	0.89[ASN][1000 genomes]
rs1217235	0.89[ASN][1000 genomes]
rs1217236	0.89[ASN][1000 genomes]
rs1217237	0.89[ASN][1000 genomes]
rs1217376	0.80[EUR][1000 genomes]
rs1217377	0.81[EUR][1000 genomes]
rs1217380	0.81[EUR][1000 genomes]
rs1217388	0.81[EUR][1000 genomes]
rs1217389	0.81[EUR][1000 genomes]
rs1217395	0.81[EUR][1000 genomes]
rs1217396	0.81[EUR][1000 genomes]
rs1217407	0.80[EUR][1000 genomes]
rs1217410	0.80[EUR][1000 genomes]
rs1217412	0.81[EUR][1000 genomes]
rs1217413	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1217416	0.89[EUR][1000 genomes]
rs1228280	0.89[ASN][1000 genomes]
rs1230637	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1230638	0.84[EUR][1000 genomes]
rs1230639	0.84[EUR][1000 genomes]
rs1230640	0.85[EUR][1000 genomes]
rs1230642	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1230645	0.85[EUR][1000 genomes]
rs1230646	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1230647	0.86[EUR][1000 genomes]
rs1230649	0.89[EUR][1000 genomes]
rs1230655	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1230658	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1230659	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1230661	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1230663	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1230671	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1230674	0.83[EUR][1000 genomes]
rs1230678	0.82[EUR][1000 genomes]
rs1230679	0.82[EUR][1000 genomes]
rs1230685	0.82[EUR][1000 genomes]
rs1230687	0.81[EUR][1000 genomes]
rs1235687	0.88[ASN][1000 genomes]
rs1235688	0.89[ASN][1000 genomes]
rs1237289	0.89[ASN][1000 genomes]
rs1237682	0.90[EUR][1000 genomes]
rs12565589	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1343125	0.85[ASN][1000 genomes]
rs1343128	0.86[ASN][1000 genomes]
rs1418957	0.85[ASN][1000 genomes]
rs1418958	0.85[ASN][1000 genomes]
rs1599971	0.81[EUR][1000 genomes]
rs17013326	0.82[ASN][1000 genomes]
rs17031716	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1743605	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1777234	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1777237	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1777238	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1777241	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1936398	0.88[EUR][1000 genomes]
rs1981319	0.85[EUR][1000 genomes]
rs2093436	0.85[EUR][1000 genomes]
rs2153977	0.83[ASN][1000 genomes]
rs2243471	0.89[EUR][1000 genomes]
rs2295853	0.86[EUR][1000 genomes]
rs2359167	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2488457	0.86[EUR][1000 genomes]
rs2488458	0.80[EUR][1000 genomes]
rs2636002	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2636013	0.85[EUR][1000 genomes]
rs2636014	0.85[EUR][1000 genomes]
rs2797408	0.82[EUR][1000 genomes]
rs2797409	0.82[EUR][1000 genomes]
rs2797412	0.82[EUR][1000 genomes]
rs2798135	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2798138	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2884703	0.85[ASN][1000 genomes]
rs2884704	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4145859	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4274063	0.82[ASN][1000 genomes]
rs4423005	0.85[EUR][1000 genomes]
rs4456089	0.81[ASN][1000 genomes]
rs4565712	0.82[EUR][1000 genomes]
rs4600045	0.85[EUR][1000 genomes]
rs4838997	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4839335	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61817589	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6537792	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6537795	0.82[EUR][1000 genomes]
rs6663679	0.85[EUR][1000 genomes]
rs6689879	0.84[ASN][1000 genomes]
rs6698586	0.86[EUR][1000 genomes]
rs6704188	0.86[ASN][1000 genomes]
rs72687973	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72687980	0.86[ASN][1000 genomes]
rs7536360	0.85[ASN][1000 genomes]
rs7553188	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872161	chr1:114162194-114280135	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114171600-114241400	Weak transcription	Right Ventricle	heart
2	chr1:114173000-114226800	Weak transcription	Aorta	Aorta
3	chr1:114173800-114236000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:114179800-114239600	Weak transcription	Spleen	Spleen
5	chr1:114183000-114235800	Weak transcription	Dnd41	blood
6	chr1:114185200-114224400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:114185400-114228000	Weak transcription	HepG2	liver
8	chr1:114185800-114223600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:114194000-114223600	Weak transcription	Left Ventricle	heart
10	chr1:114196600-114226400	Weak transcription	Gastric	stomach
11	chr1:114200200-114227800	Weak transcription	Stomach Mucosa	stomach
12	chr1:114202000-114241400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:114203000-114232000	Weak transcription	Fetal Brain Female	brain
14	chr1:114203000-114237800	Weak transcription	NH-A	brain
15	chr1:114203200-114224800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:114203200-114232200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:114203200-114237600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:114203200-114298600	Weak transcription	Fetal Brain Male	brain
19	chr1:114203400-114237800	Weak transcription	Brain Angular Gyrus	brain
20	chr1:114206600-114223600	Weak transcription	Hela-S3	cervix
21	chr1:114206600-114226400	Weak transcription	NHLF	lung
22	chr1:114206600-114229800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:114207400-114230600	Weak transcription	NHEK	skin
24	chr1:114209600-114229600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:114209800-114232400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:114211200-114231400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:114211600-114234600	Weak transcription	Brain Germinal Matrix	brain
28	chr1:114213400-114225400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:114213600-114232000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:114213600-114241600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:114214800-114232400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:114215000-114226800	Weak transcription	Ovary	ovary
33	chr1:114215400-114235800	Weak transcription	Esophagus	oesophagus
34	chr1:114215400-114235800	Weak transcription	Lung	lung
35	chr1:114216000-114247000	Weak transcription	HMEC	breast
36	chr1:114216200-114225800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:114216200-114241600	Weak transcription	Pancreas	Pancrea
38	chr1:114216200-114279800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:114216400-114223600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:114216400-114223600	Weak transcription	Fetal Muscle Leg	muscle
41	chr1:114216400-114232000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:114216400-114250400	Weak transcription	Placenta	Placenta
43	chr1:114216600-114225600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:114216600-114225600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:114216600-114227600	Weak transcription	Fetal Thymus	thymus
46	chr1:114216800-114222800	Weak transcription	Fetal Intestine Small	intestine
47	chr1:114216800-114226400	Weak transcription	Primary T cells from cord blood	blood
48	chr1:114217200-114224800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:114217800-114226000	Weak transcription	Fetal Stomach	stomach
50	chr1:114218000-114223400	Weak transcription	Fetal Muscle Trunk	muscle

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