Variant report

Variant	rs17051025
Chromosome Location	chr3:50641312-50641313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50624498..50626370-chr3:50639043..50642026,2	K562	blood:
2	chr3:50599337..50613537-chr3:50634306..50660129,118	MCF-7	breast:
3	chr3:50613663..50623986-chr3:50635558..50652363,41	MCF-7	breast:

Variant related genes	Relation type
ENSG00000088543	Chromatin interaction
ENSG00000114735	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1107312	1.00[TSI][hapmap]
rs11130253	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17051024	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2236972	1.00[TSI][hapmap]
rs2236977	1.00[TSI][hapmap]
rs2236982	1.00[TSI][hapmap]
rs2282757	1.00[TSI][hapmap]
rs28416907	1.00[EUR][1000 genomes]
rs743755	1.00[TSI][hapmap]
rs7610830	1.00[TSI][hapmap]
rs7626470	1.00[TSI][hapmap]
rs7634307	1.00[TSI][hapmap]
rs7642779	1.00[TSI][hapmap]
rs9817768	1.00[TSI][hapmap]
rs9837658	1.00[TSI][hapmap]
rs9863307	1.00[TSI][hapmap]
rs9990256	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50636000-50641400	Enhancers	Fetal Thymus	thymus
2	chr3:50636000-50641600	Enhancers	Esophagus	oesophagus
3	chr3:50636400-50641600	Enhancers	Pancreas	Pancrea
4	chr3:50636600-50643600	Enhancers	Left Ventricle	heart
5	chr3:50636800-50641600	Enhancers	Gastric	stomach
6	chr3:50636800-50646000	Genic enhancers	Fetal Intestine Small	intestine
7	chr3:50638800-50647400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr3:50639000-50642400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:50639000-50643600	Weak transcription	Aorta	Aorta
10	chr3:50639000-50643800	Weak transcription	Brain Germinal Matrix	brain
11	chr3:50639000-50648000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:50639200-50642200	Enhancers	Stomach Mucosa	stomach
13	chr3:50639400-50641400	Enhancers	Liver	Liver
14	chr3:50639400-50641400	Enhancers	Right Ventricle	heart
15	chr3:50639400-50641600	Enhancers	Adipose Nuclei	Adipose
16	chr3:50639400-50642200	Weak transcription	GM12878-XiMat	blood
17	chr3:50639400-50648000	Weak transcription	Fetal Brain Female	brain
18	chr3:50639600-50642800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr3:50639600-50646800	Genic enhancers	Spleen	Spleen
20	chr3:50639600-50648000	Weak transcription	Fetal Brain Male	brain
21	chr3:50639800-50641400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr3:50639800-50641600	Enhancers	Colonic Mucosa	Colon
23	chr3:50639800-50641800	Enhancers	K562	blood
24	chr3:50639800-50642800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr3:50639800-50644200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:50639800-50644800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:50639800-50648000	Weak transcription	HUVEC	blood vessel
28	chr3:50639800-50648200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:50639800-50648200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr3:50639800-50648200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:50640000-50641400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr3:50640000-50641800	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr3:50640000-50642200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:50640000-50642200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:50640000-50643200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr3:50640000-50644200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:50640000-50644600	Weak transcription	Thymus	Thymus
38	chr3:50640000-50647000	Genic enhancers	Fetal Muscle Leg	muscle
39	chr3:50640000-50648000	Weak transcription	Brain Substantia Nigra	brain
40	chr3:50640000-50648200	Weak transcription	NH-A	brain
41	chr3:50640200-50641600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:50640200-50641800	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr3:50640200-50642000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr3:50640200-50642000	Enhancers	HepG2	liver
45	chr3:50640200-50642400	Genic enhancers	Primary T cells from cord blood	blood
46	chr3:50640200-50642400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr3:50640200-50642600	Genic enhancers	Primary T cells fromperipheralblood	blood
48	chr3:50640200-50642800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr3:50640200-50643800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:50640200-50644200	Weak transcription	NHLF	lung

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