Variant report

Variant	rs17051027
Chromosome Location	chr3:50647434-50647435
allele	G/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	MXI1	chr3:50647389-50647571	K562	blood:	n/a	n/a
2	CTCF	chr3:50647187-50647483	K562	blood:	n/a	n/a
3	POLR2A	chr3:50646443-50650505	K562	blood:	n/a	n/a
4	POLR2A	chr3:50646093-50651691	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	POLR2A	chr3:50647370-50647446	MCF-7	breast:	n/a	n/a
11	MAX	chr3:50647188-50647460	K562	blood:	n/a	n/a
12	POLR2A	chr3:50640734-50651849	K562	blood:	n/a	n/a
13	POLR2A	chr3:50640301-50651577	K562	blood:	n/a	n/a
14	TBL1XR1	chr3:50647249-50647588	K562	blood:	n/a	n/a
15	POLR2A	chr3:50638318-50650569	PBDE	blood:	n/a	n/a
16	POLR2A	chr3:50640594-50651774	K562	blood:	n/a	n/a
17	TBL1XR1	chr3:50647427-50647761	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
ENSG00000088543	Chromatin interaction
ENSG00000012171	Chromatin interaction
ENSG00000114735	Chromatin interaction
ENSG00000114353	Chromatin interaction
ENSG00000272104	Chromatin interaction
ENSG00000145050	Chromatin interaction
ENSG00000114388	Chromatin interaction
ENSG00000114395	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13321914	1.00[AMR][1000 genomes]
rs17050997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051020	1.00[AMR][1000 genomes]
rs17051036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2085581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2232249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2232252	1.00[AMR][1000 genomes]
rs2355324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2355336	1.00[AFR][1000 genomes]
rs28496515	1.00[AMR][1000 genomes]
rs28525150	1.00[AMR][1000 genomes]
rs28546448	1.00[AMR][1000 genomes]
rs736472	1.00[AMR][1000 genomes]
rs751850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs762893	1.00[AMR][1000 genomes]
rs762894	1.00[AMR][1000 genomes]
rs9822071	1.00[AMR][1000 genomes]
rs9832171	1.00[AMR][1000 genomes]
rs9841390	1.00[AMR][1000 genomes]
rs9841986	1.00[AMR][1000 genomes]
rs9850032	1.00[AMR][1000 genomes]
rs9866852	1.00[AMR][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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50639000-50648000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:50639400-50648000	Weak transcription	Fetal Brain Female	brain
3	chr3:50639600-50648000	Weak transcription	Fetal Brain Male	brain
4	chr3:50639800-50648000	Weak transcription	HUVEC	blood vessel
5	chr3:50639800-50648200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:50639800-50648200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr3:50639800-50648200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:50640000-50648000	Weak transcription	Brain Substantia Nigra	brain
9	chr3:50640000-50648200	Weak transcription	NH-A	brain
10	chr3:50640200-50647600	Weak transcription	Brain Anterior Caudate	brain
11	chr3:50640200-50647600	Genic enhancers	Fetal Muscle Trunk	muscle
12	chr3:50640400-50648200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:50640400-50648200	Weak transcription	Osteobl	bone
14	chr3:50640600-50649200	Transcr. at gene 5' and 3'	Dnd41	blood
15	chr3:50641600-50647800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:50641600-50648400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
17	chr3:50641800-50649200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
18	chr3:50642200-50648600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
19	chr3:50642200-50648600	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
20	chr3:50642400-50648000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
21	chr3:50642600-50648400	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
22	chr3:50642600-50648600	Transcr. at gene 5' and 3'	K562	blood
23	chr3:50642800-50647600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
24	chr3:50642800-50648600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
25	chr3:50643000-50647800	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
26	chr3:50643000-50647800	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr3:50643000-50648000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr3:50643400-50647800	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
29	chr3:50643400-50648000	Transcr. at gene 5' and 3'	Liver	Liver
30	chr3:50643400-50648000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
31	chr3:50643600-50648000	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
32	chr3:50643800-50648400	Transcr. at gene 5' and 3'	Placenta	Placenta
33	chr3:50643800-50648400	Weak transcription	A549	lung
34	chr3:50644000-50647600	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:50644000-50647800	Weak transcription	HepG2	liver
36	chr3:50645000-50647600	Weak transcription	Thymus	Thymus
37	chr3:50645400-50647600	Weak transcription	HMEC	breast
38	chr3:50645400-50648400	Weak transcription	Brain Germinal Matrix	brain
39	chr3:50645600-50648200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:50645600-50648600	Weak transcription	Aorta	Aorta
41	chr3:50645800-50647600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:50645800-50648000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr3:50645800-50648200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:50646000-50647600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr3:50646000-50647600	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr3:50646000-50647800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
47	chr3:50646000-50648000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:50646000-50648600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
49	chr3:50646200-50647600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:50646200-50647800	Weak transcription	NHLF	lung

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