Variant report

Variant	rs1872184
Chromosome Location	chr3:50647343-50647344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:50647187-50647483	K562	blood:	n/a	n/a
2	POLR2A	chr3:50646443-50650505	K562	blood:	n/a	n/a
3	POLR2A	chr3:50646093-50651691	K562	blood:	n/a	n/a
4	RAD21	chr3:50647250-50647416	K562	blood:	n/a	n/a
5	POLR2A	chr3:50638521-50651780	K562	blood:	n/a	n/a
6	POLR2A	chr3:50647108-50647858	K562	blood:	n/a	n/a
7	POLR2A	chr3:50646933-50650728	K562	blood:	n/a	n/a
8	POLR2A	chr3:50637018-50651777	K562	blood:	n/a	n/a
9	MYC	chr3:50647223-50648611	K562	blood:	n/a	n/a
10	ZBTB7A	chr3:50647220-50647380	K562	blood:	n/a	n/a
11	CCNT2	chr3:50647262-50647362	K562	blood:	n/a	n/a
12	MAX	chr3:50647188-50647460	K562	blood:	n/a	n/a
13	POLR2A	chr3:50640734-50651849	K562	blood:	n/a	n/a
14	POLR2A	chr3:50640301-50651577	K562	blood:	n/a	n/a
15	TBL1XR1	chr3:50647249-50647588	K562	blood:	n/a	n/a
16	POLR2A	chr3:50638318-50650569	PBDE	blood:	n/a	n/a
17	POLR2A	chr3:50640594-50651774	K562	blood:	n/a	n/a
18	TEAD4	chr3:50647101-50647869	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50613912..50618382-chr3:50647156..50650083,6	K562	blood:
2	chr3:50645081..50647837-chr3:50662367..50665362,2	MCF-7	breast:
3	chr3:50601756..50613871-chr3:50647072..50654542,28	K562	blood:
4	chr3:50599337..50613537-chr3:50634306..50660129,118	MCF-7	breast:
5	chr3:50645064..50647749-chr3:51420364..51423585,3	MCF-7	breast:
6	chr3:50613663..50623986-chr3:50635558..50652363,41	MCF-7	breast:
7	chr3:50387814..50389880-chr3:50646553..50649326,2	MCF-7	breast:
8	chr3:50305661..50309418-chr3:50646590..50649218,4	MCF-7	breast:
9	chr3:50591763..50594660-chr3:50645848..50647720,2	MCF-7	breast:
10	chr3:50272604..50274758-chr3:50646990..50649583,2	K562	blood:

No data

Variant related genes	Relation type
MAPKAPK3	TF binding region
ENSG00000114395	Chromatin interaction
ENSG00000012171	Chromatin interaction
ENSG00000088543	Chromatin interaction
ENSG00000145050	Chromatin interaction
ENSG00000114735	Chromatin interaction
ENSG00000114388	Chromatin interaction
ENSG00000272104	Chromatin interaction
ENSG00000114353	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1077215	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12486143	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12486717	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12487817	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12489607	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12491440	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12491812	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12492093	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12492540	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12492982	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12494094	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12494326	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17050991	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17050995	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17051000	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17051043	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17051045	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17051403	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1894459	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2035484	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2076927	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2170840	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2227292	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2227293	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2239750	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2239751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239752	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2239753	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2285090	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3749265	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3752449	0.98[ASN][1000 genomes]
rs3792323	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3806706	0.82[AMR][1000 genomes]
rs4476497	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4640555	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4688705	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4688707	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4688709	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4688710	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4688713	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4688715	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4688716	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56170012	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56856095	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57910827	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58427389	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58529408	0.82[ASN][1000 genomes]
rs59036236	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60552073	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60877431	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61193866	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs61316441	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61574029	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61613532	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs616689	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6446208	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs650655	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6766638	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6771348	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6783922	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6794155	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs728902	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72938758	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72940708	0.83[EUR][1000 genomes]
rs72942785	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72942794	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72944726	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72944730	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73835531	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs743753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs745356	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs762889	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs808148	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs876103	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs876104	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs876105	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9868889	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9879397	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv482083	chr3:50643886-50649262	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50638800-50647400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:50639000-50648000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:50639400-50648000	Weak transcription	Fetal Brain Female	brain
4	chr3:50639600-50648000	Weak transcription	Fetal Brain Male	brain
5	chr3:50639800-50648000	Weak transcription	HUVEC	blood vessel
6	chr3:50639800-50648200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:50639800-50648200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:50639800-50648200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:50640000-50648000	Weak transcription	Brain Substantia Nigra	brain
10	chr3:50640000-50648200	Weak transcription	NH-A	brain
11	chr3:50640200-50647600	Weak transcription	Brain Anterior Caudate	brain
12	chr3:50640200-50647600	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr3:50640400-50648200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:50640400-50648200	Weak transcription	Osteobl	bone
15	chr3:50640600-50649200	Transcr. at gene 5' and 3'	Dnd41	blood
16	chr3:50641600-50647800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:50641600-50648400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
18	chr3:50641800-50649200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
19	chr3:50642200-50648600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
20	chr3:50642200-50648600	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
21	chr3:50642400-50648000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
22	chr3:50642600-50647400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:50642600-50648400	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
24	chr3:50642600-50648600	Transcr. at gene 5' and 3'	K562	blood
25	chr3:50642800-50647600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
26	chr3:50642800-50648600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
27	chr3:50643000-50647400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:50643000-50647800	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
29	chr3:50643000-50647800	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr3:50643000-50648000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr3:50643400-50647800	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
32	chr3:50643400-50648000	Transcr. at gene 5' and 3'	Liver	Liver
33	chr3:50643400-50648000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
34	chr3:50643600-50648000	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
35	chr3:50643800-50648400	Transcr. at gene 5' and 3'	Placenta	Placenta
36	chr3:50643800-50648400	Weak transcription	A549	lung
37	chr3:50644000-50647600	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
38	chr3:50644000-50647800	Weak transcription	HepG2	liver
39	chr3:50645000-50647600	Weak transcription	Thymus	Thymus
40	chr3:50645400-50647400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:50645400-50647600	Weak transcription	HMEC	breast
42	chr3:50645400-50648400	Weak transcription	Brain Germinal Matrix	brain
43	chr3:50645600-50648200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:50645600-50648600	Weak transcription	Aorta	Aorta
45	chr3:50645800-50647600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:50645800-50648000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr3:50645800-50648200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:50646000-50647400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:50646000-50647400	Enhancers	Stomach Mucosa	stomach
50	chr3:50646000-50647600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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