Variant report

Variant	rs1989940
Chromosome Location	chr7:111930444-111930445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111930275..111932583-chr7:111961875..111964299,2	K562	blood:
2	chr7:111929778..111931820-chr7:111935199..111938060,2	K562	blood:
3	chr7:111929064..111930733-chr7:111964333..111965879,2	K562	blood:

Extended variants
information (count: 137 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs1007587	1.00[CEU][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1014725	1.00[CEU][hapmap];0.86[YRI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10215841	1.00[CEU][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10225540	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10226613	1.00[CEU][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10227934	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229525	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229822	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229978	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10230608	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232364	1.00[CEU][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232380	1.00[CEU][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234035	1.00[CEU][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234996	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235364	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10238838	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10238839	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10239076	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243086	1.00[ASN][1000 genomes]
rs10244575	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246054	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10247540	1.00[ASN][1000 genomes]
rs10248735	1.00[ASN][1000 genomes]
rs10248923	0.87[EUR][1000 genomes]
rs10249330	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249953	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10251712	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10252768	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs10253360	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10254160	1.00[ASN][1000 genomes]
rs10257492	1.00[CEU][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257831	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257850	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10258413	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259763	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10262723	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10263624	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264118	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264797	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266828	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269074	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270151	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273461	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275709	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276062	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276695	0.87[EUR][1000 genomes]
rs10276868	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276907	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277444	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278528	0.87[EUR][1000 genomes]
rs10278642	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278883	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs10279631	1.00[ASN][1000 genomes]
rs10280408	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487289	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12333548	1.00[CEU][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437769	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437855	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438058	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438257	1.00[CEU][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159423	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159431	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159432	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159440	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159444	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159475	1.00[CEU][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159496	1.00[ASN][1000 genomes]
rs17159531	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159611	1.00[CEU][hapmap];0.86[YRI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159613	1.00[ASN][1000 genomes]
rs17159615	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2040726	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2214434	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396525	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396534	1.00[CEU][hapmap];0.81[YRI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396535	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2729540	1.00[ASN][1000 genomes]
rs2729543	1.00[ASN][1000 genomes]
rs2729545	1.00[ASN][1000 genomes]
rs2729546	1.00[ASN][1000 genomes]
rs2729548	1.00[ASN][1000 genomes]
rs28402908	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28407071	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28490504	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28516940	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28563007	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28566952	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28594984	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28602472	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28654705	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28712358	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28718033	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28797808	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4321927	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4392819	1.00[CEU][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727767	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727768	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727769	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730514	1.00[CEU][hapmap];0.82[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730515	1.00[CEU][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730521	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730523	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730525	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730526	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730527	1.00[CEU][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730528	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730530	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730531	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs4730534	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730535	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730537	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730538	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730545	1.00[ASN][1000 genomes]
rs4730546	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57771476	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58514081	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60046006	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60317474	1.00[ASN][1000 genomes]
rs60677549	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943924	1.00[ASN][1000 genomes]
rs6948649	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950339	0.91[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950367	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954131	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973251	1.00[ASN][1000 genomes]
rs6975374	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977315	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977379	1.00[ASN][1000 genomes]
rs726422	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424453	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783041	1.00[CEU][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886351	1.00[ASN][1000 genomes]
rs886352	1.00[ASN][1000 genomes]
rs9986709	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111903400-111949200	Weak transcription	Fetal Intestine Small	intestine
2	chr7:111913200-111965200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:111913400-111938400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:111913600-111949600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:111918000-111963000	Weak transcription	Aorta	Aorta
6	chr7:111920600-111942200	Weak transcription	HepG2	liver
7	chr7:111921200-111937200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:111921400-111961800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:111922000-111949800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:111922400-111949800	Weak transcription	Ovary	ovary
11	chr7:111922800-111945000	Weak transcription	Pancreas	Pancrea
12	chr7:111923000-111942400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:111923600-111964600	Weak transcription	Esophagus	oesophagus
14	chr7:111923600-111964800	Weak transcription	Gastric	stomach
15	chr7:111926200-111948000	Weak transcription	Spleen	Spleen
16	chr7:111926200-111979600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:111926600-111932000	Weak transcription	Psoas Muscle	Psoas
18	chr7:111926600-111932200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:111926600-111937400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:111926600-111938000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:111926600-111938000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:111926600-111938600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr7:111926600-111942600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:111926600-111982200	Weak transcription	Right Ventricle	heart
25	chr7:111926800-111931400	Weak transcription	Thymus	Thymus
26	chr7:111926800-111931800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr7:111926800-111932200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr7:111926800-111932200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:111926800-111942600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:111926800-111942600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:111926800-111942800	Weak transcription	Fetal Kidney	kidney
32	chr7:111926800-111949000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr7:111926800-111949800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:111926800-111949800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr7:111926800-111962000	Weak transcription	Fetal Brain Female	brain
36	chr7:111926800-111964800	Weak transcription	Lung	lung
37	chr7:111927000-111932600	Strong transcription	Dnd41	blood
38	chr7:111927000-111936600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:111927000-111938400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr7:111927200-111965000	Weak transcription	Brain Anterior Caudate	brain
41	chr7:111927400-111931200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:111927400-111938600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:111927400-111940000	Weak transcription	Brain Germinal Matrix	brain
44	chr7:111927400-111945800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr7:111927400-111964800	Weak transcription	Fetal Stomach	stomach
46	chr7:111928000-111931000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr7:111928600-111947000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:111928600-111978000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:111928800-111932000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:111928800-111932000	Weak transcription	Monocytes-CD14+_RO01746	blood

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