Variant report

Variant	rs10801187
Chromosome Location	chr1:193154512-193154513
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193091690..193093803-chr1:193152706..193155451,2	K562	blood:
2	chr1:193146146..193149331-chr1:193151416..193154903,3	MCF-7	breast:

Extended variants
information (count: 150 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:148)

rs_ID	r²[population]
rs10399607	0.98[ASN][1000 genomes]
rs10399929	0.98[ASN][1000 genomes]
rs10494674	0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs10732293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10733078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs10737620	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs10737621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10737622	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10737623	0.84[ASN][1000 genomes]
rs10754044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10754046	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10754047	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10754048	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10754049	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10754052	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10754053	0.99[ASN][1000 genomes]
rs10754054	0.85[ASN][1000 genomes]
rs10754055	0.84[ASN][1000 genomes]
rs10801173	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs10801174	1.00[CEU][hapmap]
rs10801177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10801178	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10801179	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10801180	0.88[ASN][1000 genomes]
rs10801182	0.88[ASN][1000 genomes]
rs10801183	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10801184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10801188	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10801189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10801190	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10801191	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10801192	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10921308	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10921312	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10921317	0.85[ASN][1000 genomes]
rs10921318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap]
rs10921319	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10921323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10921325	0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs10921326	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10921328	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10921330	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10921334	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10921336	0.87[ASN][1000 genomes]
rs11577299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12047390	0.82[CHB][hapmap]
rs12064521	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12078145	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12086884	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs12090626	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12126529	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12137318	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12141392	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12145057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12410213	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1325197	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs1361404	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs1361405	0.82[CHB][hapmap]
rs1408830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1416977	0.80[EUR][1000 genomes]
rs1536097	0.98[ASN][1000 genomes]
rs1536098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1536099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1539724	0.91[CEU][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1578242	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1578243	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1632444	0.84[ASN][1000 genomes]
rs1749424	0.83[ASN][1000 genomes]
rs1890660	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs2078083	0.91[ASN][1000 genomes]
rs2181408	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2182106	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2186016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2251699	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2254646	0.84[ASN][1000 genomes]
rs2275444	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs2370027	0.81[EUR][1000 genomes]
rs2370028	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2370029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2370079	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2486842	0.83[ASN][1000 genomes]
rs3738244	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3806351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3818865	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3820417	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3945872	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4379660	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4450000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4466634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs4657744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4657745	0.88[ASN][1000 genomes]
rs4657747	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4657842	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4657843	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4657846	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4657847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4657848	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4658079	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs474328	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs475163	0.87[ASN][1000 genomes]
rs503265	0.84[ASN][1000 genomes]
rs524701	0.87[ASN][1000 genomes]
rs543788	0.84[ASN][1000 genomes]
rs569656	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs571029	0.84[ASN][1000 genomes]
rs6428151	0.85[ASN][1000 genomes]
rs6428152	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6428153	0.99[ASN][1000 genomes]
rs6428154	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6428155	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6428156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6428157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6428159	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6428160	0.87[ASN][1000 genomes]
rs6661522	0.81[CHB][hapmap]
rs6663162	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6665069	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6665666	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6671237	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6671476	0.84[ASN][1000 genomes]
rs6673271	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6675827	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6675833	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6676322	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs6676416	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs6676878	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6680224	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6689006	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6692342	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6697079	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs693519	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs7514072	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7515024	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7518792	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7519242	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7542466	0.90[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap]
rs7545223	0.98[ASN][1000 genomes]
rs7546869	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7547615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs7554925	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs817136	0.87[ASN][1000 genomes]
rs817140	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs843844	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs912070	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs912071	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs942680	0.87[ASN][1000 genomes]
rs9427838	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs9783104	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193094800-193155000	Weak transcription	Aorta	Aorta
2	chr1:193110000-193155200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:193121000-193155200	Weak transcription	Pancreas	Pancrea
4	chr1:193123400-193155200	Weak transcription	Thymus	Thymus
5	chr1:193126200-193155200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:193126200-193155200	Weak transcription	Gastric	stomach
7	chr1:193126800-193155000	Weak transcription	Fetal Thymus	thymus
8	chr1:193128600-193154800	Weak transcription	NH-A	brain
9	chr1:193130400-193154800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:193131800-193158600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:193133200-193154800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:193133200-193154800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:193135600-193155000	Weak transcription	Small Intestine	intestine
14	chr1:193135600-193155200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:193137600-193154800	Weak transcription	HMEC	breast
16	chr1:193140200-193154800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:193140400-193155200	Weak transcription	Adipose Nuclei	Adipose
18	chr1:193140400-193159800	Weak transcription	Dnd41	blood
19	chr1:193140600-193154800	Weak transcription	HUVEC	blood vessel
20	chr1:193140600-193155200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:193140800-193161400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:193142200-193155400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr1:193142400-193154600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:193142800-193155200	Weak transcription	GM12878-XiMat	blood
25	chr1:193144200-193160400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr1:193144600-193155400	Weak transcription	Primary B cells from cord blood	blood
27	chr1:193147800-193155000	Weak transcription	Primary T cells from cord blood	blood
28	chr1:193148400-193161200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:193149600-193156600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:193149800-193156600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr1:193150000-193155000	Weak transcription	K562	blood
32	chr1:193150200-193156400	Active TSS	Brain Angular Gyrus	brain
33	chr1:193150400-193157600	Active TSS	Fetal Brain Female	brain
34	chr1:193150800-193154800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:193150800-193156000	Active TSS	Fetal Brain Male	brain
36	chr1:193150800-193156000	Active TSS	HSMM	muscle
37	chr1:193150800-193157000	Active TSS	HSMMtube	muscle
38	chr1:193151400-193155000	Active TSS	Fetal Lung	lung
39	chr1:193151400-193155000	Weak transcription	Left Ventricle	heart
40	chr1:193151400-193155000	Weak transcription	Psoas Muscle	Psoas
41	chr1:193151400-193155000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:193151400-193156200	Active TSS	Brain Germinal Matrix	brain
43	chr1:193151600-193155800	Active TSS	Fetal Kidney	kidney
44	chr1:193151600-193156200	Active TSS	Fetal Muscle Leg	muscle
45	chr1:193151600-193156600	Active TSS	NHLF	lung
46	chr1:193151800-193155000	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr1:193151800-193156000	Active TSS	NHDF-Ad	bronchial
48	chr1:193152000-193155000	Active TSS	Duodenum Mucosa	Duodenum
49	chr1:193152000-193155400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:193152000-193156000	Active TSS	Brain Anterior Caudate	brain

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