Variant report

Variant	rs4730523
Chromosome Location	chr7:111950070-111950071
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111949931..111951481-chr7:111969749..111972732,2	K562	blood:
2	chr7:111947172..111951025-chr7:111951049..111954206,4	K562	blood:

Extended variants
information (count: 141 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs1007587	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1014725	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10215841	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10225540	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10226613	1.00[ASN][1000 genomes]
rs10227934	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229525	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229822	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229978	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10230608	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232364	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232380	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234035	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235364	1.00[EUR][1000 genomes]
rs10238838	1.00[EUR][1000 genomes]
rs10238839	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10239076	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243086	1.00[ASN][1000 genomes]
rs10244575	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246054	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10247540	1.00[ASN][1000 genomes]
rs10248735	1.00[ASN][1000 genomes]
rs10248923	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10249330	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249953	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10251712	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10252768	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10253360	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10254160	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257492	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257831	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257850	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10258413	1.00[CEU][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10262723	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10263624	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264118	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266828	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270151	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273461	1.00[CEU][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276062	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276695	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10276868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276907	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277444	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278528	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10278642	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278883	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279631	1.00[ASN][1000 genomes]
rs10280408	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487289	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12333548	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437769	0.82[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437855	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438058	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438257	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159423	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159431	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159432	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159444	0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159475	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159496	1.00[ASN][1000 genomes]
rs17159531	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159611	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159613	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs17159615	1.00[ASN][1000 genomes]
rs17159704	1.00[CEU][hapmap]
rs1989940	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040726	1.00[EUR][1000 genomes]
rs2214434	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396525	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396534	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396535	1.00[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	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28407071	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28490504	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28516940	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28563007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28566952	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28594984	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28602472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28654705	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28712358	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28718033	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28797808	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4321927	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4392819	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727767	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727768	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727769	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730514	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730515	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730521	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730526	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730527	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730528	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730530	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730531	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4730534	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730535	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730537	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730538	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730545	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730546	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57771476	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58514081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60046006	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60317474	1.00[ASN][1000 genomes]
rs60677549	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943924	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948649	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950339	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950367	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954131	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965959	0.87[EUR][1000 genomes]
rs6973251	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975374	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977315	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977379	1.00[ASN][1000 genomes]
rs726422	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424453	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783041	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886351	1.00[ASN][1000 genomes]
rs886352	1.00[ASN][1000 genomes]
rs9986709	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	esv2764032	chr7:111938590-111963829	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1020212	chr7:111944370-112032596	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111913200-111965200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:111918000-111963000	Weak transcription	Aorta	Aorta
3	chr7:111921400-111961800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:111923600-111964600	Weak transcription	Esophagus	oesophagus
5	chr7:111923600-111964800	Weak transcription	Gastric	stomach
6	chr7:111926200-111979600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:111926600-111982200	Weak transcription	Right Ventricle	heart
8	chr7:111926800-111962000	Weak transcription	Fetal Brain Female	brain
9	chr7:111926800-111964800	Weak transcription	Lung	lung
10	chr7:111927200-111965000	Weak transcription	Brain Anterior Caudate	brain
11	chr7:111927400-111964800	Weak transcription	Fetal Stomach	stomach
12	chr7:111928600-111978000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:111928800-111961000	Weak transcription	Placenta	Placenta
14	chr7:111929000-111958800	Weak transcription	Fetal Thymus	thymus
15	chr7:111929000-111959000	Weak transcription	Fetal Intestine Large	intestine
16	chr7:111930200-111961800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:111930600-111959000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:111930800-111965200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:111931000-111981000	Weak transcription	HSMMtube	muscle
20	chr7:111933000-111958600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:111934000-111965200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:111936800-111959800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:111938000-111953400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr7:111938000-111965000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:111938400-111958400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr7:111939200-111961800	Weak transcription	Psoas Muscle	Psoas
27	chr7:111939200-111964600	Weak transcription	Left Ventricle	heart
28	chr7:111939600-111958200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:111940000-111964800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:111941000-111963200	Weak transcription	Fetal Brain Male	brain
31	chr7:111941600-111960400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr7:111943000-111960400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:111943000-111960800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:111943000-111978600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr7:111943000-111985200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:111945200-111965000	Weak transcription	Pancreas	Pancrea
37	chr7:111945200-111986800	Weak transcription	Hela-S3	cervix
38	chr7:111947200-111954200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:111947400-111981000	Weak transcription	Brain Angular Gyrus	brain
40	chr7:111947800-111955800	Weak transcription	Brain Substantia Nigra	brain
41	chr7:111947800-111960600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:111948600-111950200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr7:111948600-111950400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:111948800-111950200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
45	chr7:111948800-111951000	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr7:111948800-111951000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:111949000-111950200	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr7:111949000-111950200	ZNF genes & repeats	Dnd41	blood
49	chr7:111949000-111950600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:111949000-111950600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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