Variant report

Variant	rs4688709
Chromosome Location	chr3:50627339-50627340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50625968..50628084-chr3:50630871..50632598,2	K562	blood:
2	chr3:50614605..50616969-chr3:50624972..50627366,3	K562	blood:
3	chr3:50621137..50623770-chr3:50625680..50628111,2	K562	blood:
4	chr3:50625312..50628212-chr3:50642289..50643959,2	K562	blood:
5	chr3:50617330..50618910-chr3:50625907..50627655,2	K562	blood:
6	chr3:50604804..50606587-chr3:50626541..50629507,2	K562	blood:
7	chr3:50626963..50632967-chr3:50633102..50640850,17	K562	blood:
8	chr3:50624179..50629741-chr3:50646689..50652947,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000114738	Chromatin interaction
ENSG00000114735	Chromatin interaction
ENSG00000088543	Chromatin interaction
ENSG00000114737	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1077215	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1107312	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12486143	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12486717	0.85[ASN][1000 genomes]
rs12487817	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12489607	0.87[ASN][1000 genomes]
rs12491440	0.87[ASN][1000 genomes]
rs12491812	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12492093	0.87[ASN][1000 genomes]
rs12492540	0.87[ASN][1000 genomes]
rs12492982	0.88[ASN][1000 genomes]
rs12494094	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12494326	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12494707	0.92[AMR][1000 genomes]
rs17050991	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17050995	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17051000	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17051043	0.87[ASN][1000 genomes]
rs17051045	0.87[ASN][1000 genomes]
rs17051403	0.80[ASN][1000 genomes]
rs1872184	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1894459	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2035484	0.80[ASN][1000 genomes]
rs2076927	0.83[ASN][1000 genomes]
rs2170840	0.87[ASN][1000 genomes]
rs2227292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2227293	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2239750	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239751	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2239752	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2239753	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2285090	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3749265	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3752449	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792323	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3806706	0.81[ASN][1000 genomes]
rs4476497	0.90[ASN][1000 genomes]
rs4640555	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4688705	0.87[ASN][1000 genomes]
rs4688707	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4688710	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4688713	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4688715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4688716	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56170012	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs56856095	0.82[ASN][1000 genomes]
rs57910827	0.87[ASN][1000 genomes]
rs58427389	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58529408	0.80[ASN][1000 genomes]
rs59036236	0.85[ASN][1000 genomes]
rs60552073	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60877431	0.86[ASN][1000 genomes]
rs61193866	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61316441	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61574029	0.89[ASN][1000 genomes]
rs61613532	0.90[ASN][1000 genomes]
rs616689	0.93[ASN][1000 genomes]
rs6446208	0.86[ASN][1000 genomes]
rs650655	0.88[ASN][1000 genomes]
rs6766638	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6771348	0.90[ASN][1000 genomes]
rs6783922	0.90[ASN][1000 genomes]
rs6794155	0.85[ASN][1000 genomes]
rs728902	0.87[ASN][1000 genomes]
rs72938758	0.90[ASN][1000 genomes]
rs72942785	0.87[ASN][1000 genomes]
rs72942794	0.85[ASN][1000 genomes]
rs72944726	0.80[ASN][1000 genomes]
rs72944730	0.80[ASN][1000 genomes]
rs73835531	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs743753	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs745356	0.90[ASN][1000 genomes]
rs762889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808148	0.90[ASN][1000 genomes]
rs876103	0.88[ASN][1000 genomes]
rs876104	0.88[ASN][1000 genomes]
rs876105	0.88[ASN][1000 genomes]
rs9868889	0.90[ASN][1000 genomes]
rs9879397	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50607400-50628200	Weak transcription	Small Intestine	intestine
2	chr3:50607600-50628400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:50607800-50628200	Weak transcription	HSMMtube	muscle
4	chr3:50607800-50628600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr3:50608200-50628400	Weak transcription	A549	lung
6	chr3:50608200-50637400	Weak transcription	Fetal Kidney	kidney
7	chr3:50610200-50628000	Weak transcription	Stomach Mucosa	stomach
8	chr3:50610400-50628400	Weak transcription	HSMM	muscle
9	chr3:50610600-50627600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr3:50613400-50628000	Weak transcription	HMEC	breast
11	chr3:50616000-50628600	Weak transcription	Colon Smooth Muscle	Colon
12	chr3:50617800-50628200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:50618000-50628000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr3:50619400-50628200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:50619400-50628200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr3:50619600-50628400	Weak transcription	Brain Angular Gyrus	brain
17	chr3:50619800-50628200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr3:50620000-50628600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:50620200-50628200	Weak transcription	Fetal Heart	heart
20	chr3:50620400-50628000	Weak transcription	Primary B cells from cord blood	blood
21	chr3:50620400-50628200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr3:50620400-50628400	Weak transcription	NHLF	lung
23	chr3:50620400-50628600	Weak transcription	Brain Anterior Caudate	brain
24	chr3:50620400-50628600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr3:50620400-50628600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:50620800-50628000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:50621200-50628400	Weak transcription	Brain Substantia Nigra	brain
28	chr3:50621800-50628000	Weak transcription	Gastric	stomach
29	chr3:50622200-50628200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:50622200-50628200	Weak transcription	Colonic Mucosa	Colon
31	chr3:50622400-50628000	Enhancers	GM12878-XiMat	blood
32	chr3:50622400-50628200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr3:50622400-50629800	Weak transcription	Fetal Lung	lung
34	chr3:50622600-50627400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr3:50622600-50628000	Enhancers	Primary T cells fromperipheralblood	blood
36	chr3:50622800-50628000	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr3:50623000-50628200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:50623000-50636600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:50623200-50628000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr3:50623200-50628200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr3:50623200-50633800	Enhancers	Fetal Thymus	thymus
42	chr3:50623400-50628000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr3:50623400-50628000	Weak transcription	Adipose Nuclei	Adipose
44	chr3:50623800-50628000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr3:50624000-50628000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:50624000-50628000	Enhancers	K562	blood
47	chr3:50624200-50627800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr3:50624200-50628000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr3:50624200-50628000	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr3:50624200-50628200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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