Variant report

Variant	rs2250805
Chromosome Location	chr15:76488174-76488175
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:76487953..76490483-chr15:76500123..76503783,3	K562	blood:
2	chr15:76487373..76491413-chr15:76492592..76495149,4	K562	blood:
3	chr15:76482420..76485297-chr15:76485451..76488299,2	K562	blood:
4	chr15:76486525..76491130-chr15:76491292..76495169,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169758	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10220790	1.00[AMR][1000 genomes]
rs12708522	0.92[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1533600	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1810347	1.00[AMR][1000 genomes]
rs1814764	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1875886	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1878877	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs2037306	1.00[AMR][1000 genomes]
rs2176622	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244050	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2245180	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2247488	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2405329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2405330	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2405332	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456030	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456032	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456034	1.00[AMR][1000 genomes]
rs2456035	1.00[AMR][1000 genomes]
rs2456036	1.00[AMR][1000 genomes]
rs2456037	0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456038	1.00[AMR][1000 genomes]
rs2456039	1.00[AMR][1000 genomes]
rs2456043	0.83[AMR][1000 genomes]
rs2456044	0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456056	0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456059	0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456062	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456064	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456068	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456069	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456077	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2460141	1.00[AMR][1000 genomes]
rs2460143	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs2460145	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2460149	1.00[AMR][1000 genomes]
rs2460157	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2460159	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469209	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469217	0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469218	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs2469219	1.00[AMR][1000 genomes]
rs2469220	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469221	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469223	1.00[AMR][1000 genomes]
rs2469536	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469537	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469540	0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469545	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469546	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469549	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469550	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469551	1.00[AMR][1000 genomes]
rs2469553	1.00[AMR][1000 genomes]
rs2469561	0.89[AFR][1000 genomes]
rs2469571	1.00[AMR][1000 genomes]
rs2469572	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469574	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs284894	0.83[AMR][1000 genomes]
rs2938692	1.00[AMR][1000 genomes]
rs2938693	1.00[AMR][1000 genomes]
rs2938694	0.83[AMR][1000 genomes]
rs2938696	1.00[AMR][1000 genomes]
rs2938698	1.00[AMR][1000 genomes]
rs2944379	1.00[AMR][1000 genomes]
rs2944380	1.00[AMR][1000 genomes]
rs2948702	1.00[AMR][1000 genomes]
rs2956872	1.00[AMR][1000 genomes]
rs2957558	1.00[AMR][1000 genomes]
rs2957608	1.00[AMR][1000 genomes]
rs4886797	1.00[AMR][1000 genomes]
rs6495202	1.00[AMR][1000 genomes]
rs7164815	1.00[AMR][1000 genomes]
rs8040818	1.00[AMR][1000 genomes]
rs937731	1.00[AMR][1000 genomes]
rs937734	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569998	chr15:76232605-76550938	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1048760	chr15:76334544-76496977	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv833057	chr15:76367848-76585868	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1036319	chr15:76432823-76489955	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv1042750	chr15:76435640-76490547	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv1046099	chr15:76444695-76490547	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv1049916	chr15:76454194-76490547	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv1054713	chr15:76460462-76505906	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76478200-76488400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:76483200-76488200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:76483200-76488400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:76483600-76488200	Weak transcription	Brain Hippocampus Middle	brain
5	chr15:76483600-76488400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:76483600-76488400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:76483600-76488400	Weak transcription	Brain Angular Gyrus	brain
8	chr15:76483600-76488400	Weak transcription	Brain Substantia Nigra	brain
9	chr15:76483600-76488400	Weak transcription	Fetal Heart	heart
10	chr15:76483600-76488400	Weak transcription	HSMM	muscle
11	chr15:76483600-76488600	Weak transcription	K562	blood
12	chr15:76483600-76493400	Enhancers	Stomach Mucosa	stomach
13	chr15:76483800-76488400	Weak transcription	Brain Anterior Caudate	brain
14	chr15:76483800-76488400	Weak transcription	HMEC	breast
15	chr15:76483800-76488400	Weak transcription	NHDF-Ad	bronchial
16	chr15:76483800-76491800	Weak transcription	Liver	Liver
17	chr15:76484000-76488200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr15:76484000-76488400	Weak transcription	Ovary	ovary
19	chr15:76484000-76498600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr15:76484000-76500800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr15:76484200-76488400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr15:76484200-76488600	Weak transcription	Primary B cells from cord blood	blood
23	chr15:76484200-76488600	Weak transcription	Pancreas	Pancrea
24	chr15:76484200-76498200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr15:76484400-76488400	Weak transcription	Right Ventricle	heart
26	chr15:76484600-76489200	Weak transcription	GM12878-XiMat	blood
27	chr15:76484800-76488600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:76485400-76498400	Weak transcription	Fetal Brain Female	brain
29	chr15:76486000-76492000	Enhancers	Esophagus	oesophagus
30	chr15:76486400-76489200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr15:76486800-76488200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:76486800-76488200	Weak transcription	A549	lung
33	chr15:76486800-76488400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr15:76486800-76488600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr15:76486800-76491800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr15:76486800-76503000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr15:76486800-76516600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr15:76487000-76488200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr15:76487000-76488200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr15:76487000-76488400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:76487000-76488400	Weak transcription	Colonic Mucosa	Colon
42	chr15:76487000-76488600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr15:76487000-76488600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr15:76487000-76492200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr15:76487000-76498200	Weak transcription	Primary T cells from cord blood	blood
46	chr15:76487200-76488400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr15:76487400-76488600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:76487400-76492400	Enhancers	Psoas Muscle	Psoas
49	chr15:76487600-76488200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr15:76487600-76492000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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