Variant report

Variant	rs4688707
Chromosome Location	chr3:50634026-50634027
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:50626963..50632967-chr3:50633102..50640850,17	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1077215	0.85[ASN][1000 genomes]
rs1107312	0.80[ASN][1000 genomes]
rs12486143	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12486717	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12487817	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12489607	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12491440	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12491812	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12492093	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12492540	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12492982	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12494094	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12494326	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17050991	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17050995	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17051000	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17051043	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17051045	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17051403	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1872184	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1894459	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2035484	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2076927	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2170840	0.87[ASN][1000 genomes]
rs2227292	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2227293	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239750	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2239751	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2239752	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2239753	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2285090	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3749265	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3752449	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3792323	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3806706	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4476497	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4640555	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4688705	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4688709	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4688710	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4688713	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4688715	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4688716	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs56170012	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs56856095	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs57910827	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58427389	0.91[ASN][1000 genomes]
rs58529408	0.80[ASN][1000 genomes]
rs59036236	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60552073	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60877431	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61193866	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61316441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61574029	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61613532	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs616689	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6446208	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs650655	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6766638	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6771348	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6783922	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6794155	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs728902	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72938758	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72942785	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72942794	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72944726	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs72944730	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs73835531	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs743753	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs745356	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs762889	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808148	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs876103	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs876104	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs876105	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9868889	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9879397	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv460533	chr3:50574213-50678151	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv590273	chr3:50574213-50678151	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	esv3362792	chr3:50633993-50634357	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50608200-50637400	Weak transcription	Fetal Kidney	kidney
2	chr3:50623000-50636600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:50628600-50635600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr3:50628600-50638200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:50628800-50637200	Weak transcription	A549	lung
6	chr3:50628800-50637400	Weak transcription	Brain Substantia Nigra	brain
7	chr3:50629000-50637600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:50629800-50635600	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:50630400-50636600	Weak transcription	Ovary	ovary
10	chr3:50630400-50637200	Weak transcription	NHDF-Ad	bronchial
11	chr3:50630600-50635600	Weak transcription	Fetal Lung	lung
12	chr3:50630600-50636600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:50630600-50636800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr3:50630600-50637200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr3:50630600-50637400	Weak transcription	Stomach Mucosa	stomach
16	chr3:50630800-50634800	Enhancers	Dnd41	blood
17	chr3:50630800-50636000	Weak transcription	Esophagus	oesophagus
18	chr3:50630800-50636000	Weak transcription	Right Ventricle	heart
19	chr3:50630800-50636200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:50630800-50636400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr3:50630800-50636400	Weak transcription	Fetal Stomach	stomach
22	chr3:50630800-50636600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr3:50630800-50636800	Weak transcription	Gastric	stomach
24	chr3:50630800-50637000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr3:50631000-50636600	Weak transcription	Fetal Muscle Leg	muscle
26	chr3:50631000-50637000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr3:50631800-50636600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr3:50632000-50636600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr3:50632000-50636800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:50632200-50635800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:50632200-50636000	Weak transcription	Lung	lung
32	chr3:50632200-50636000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr3:50632200-50636400	Weak transcription	Pancreas	Pancrea
34	chr3:50632200-50636400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr3:50632200-50636600	Weak transcription	Left Ventricle	heart
36	chr3:50632200-50637400	Weak transcription	Psoas Muscle	Psoas
37	chr3:50632400-50635800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:50632400-50636000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr3:50632400-50636200	Weak transcription	Liver	Liver
40	chr3:50632400-50636400	Weak transcription	Fetal Heart	heart
41	chr3:50632800-50635800	Weak transcription	Placenta	Placenta
42	chr3:50632800-50636800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr3:50633000-50635400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr3:50633400-50635800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr3:50633600-50635800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr3:50633600-50636000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr3:50633800-50634600	Strong transcription	Fetal Intestine Small	intestine
48	chr3:50633800-50635400	Weak transcription	K562	blood
49	chr3:50633800-50635800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr3:50633800-50636000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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