Variant report

Variant	rs2469544
Chromosome Location	chr15:76484947-76484948
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:76482702..76486394-chr15:76633656..76636389,3	K562	blood:
2	chr15:76484065..76486868-chr15:76602060..76604082,2	MCF-7	breast:
3	chr15:76482689..76486583-chr15:76628039..76631365,3	K562	blood:
4	chr15:76484853..76487491-chr15:76488798..76492049,5	K562	blood:

Variant related genes	Relation type
ENSG00000159556	Chromatin interaction
ENSG00000140374	Chromatin interaction
ENSG00000259514	Chromatin interaction
ENSG00000270036	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1801591	0.89[ASN][1000 genomes]
rs1914816	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2255408	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2291449	0.89[ASN][1000 genomes]
rs2456027	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2456040	0.89[ASN][1000 genomes]
rs2456042	0.89[ASN][1000 genomes]
rs2456047	0.89[ASN][1000 genomes]
rs2456053	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2456063	0.81[ASN][1000 genomes]
rs2456066	0.80[YRI][hapmap];0.81[ASN][1000 genomes]
rs2456067	0.82[ASN][1000 genomes]
rs2456070	0.80[YRI][hapmap];0.89[ASN][1000 genomes]
rs2456072	1.00[CEU][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2456074	0.89[ASN][1000 genomes]
rs2456075	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2456078	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2460146	0.85[CEU][hapmap];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2460151	0.90[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2460153	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs2460155	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2460158	0.81[YRI][hapmap];0.81[ASN][1000 genomes]
rs2469211	0.85[YRI][hapmap];0.81[ASN][1000 genomes]
rs2469214	0.89[ASN][1000 genomes]
rs2469215	0.80[YRI][hapmap]
rs2469538	0.89[ASN][1000 genomes]
rs2469539	0.89[ASN][1000 genomes]
rs2469564	0.89[ASN][1000 genomes]
rs2469573	0.92[YRI][hapmap]
rs2938691	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2956875	0.80[YRI][hapmap];0.81[ASN][1000 genomes]
rs2957037	0.92[CEU][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2959846	0.89[ASN][1000 genomes]
rs8042255	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	nsv1045860	chr15:76431374-76485536	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv1053643	chr15:76431374-76485966	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	nsv1052496	chr15:76432823-76484981	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	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
8	nsv1047539	chr15:76435640-76485966	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	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
10	nsv1054289	chr15:76437970-76485966	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv1041435	chr15:76444695-76484981	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv1046448	chr15:76444695-76485966	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	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
14	nsv1044603	chr15:76445689-76484981	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
15	nsv1043026	chr15:76445689-76485966	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
16	nsv1041619	chr15:76454194-76484981	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	nsv1046485	chr15:76454194-76485536	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
18	nsv1053572	chr15:76454194-76485966	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
19	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
20	nsv1053775	chr15:76460462-76485966	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
21	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
22	esv274972	chr15:76483342-76485536	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76478200-76488400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:76478600-76487800	Weak transcription	Right Atrium	heart
3	chr15:76479800-76487400	Weak transcription	Psoas Muscle	Psoas
4	chr15:76483200-76485200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:76483200-76488000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr15:76483200-76488200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:76483200-76488400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:76483600-76488200	Weak transcription	Brain Hippocampus Middle	brain
9	chr15:76483600-76488400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr15:76483600-76488400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:76483600-76488400	Weak transcription	Brain Angular Gyrus	brain
12	chr15:76483600-76488400	Weak transcription	Brain Substantia Nigra	brain
13	chr15:76483600-76488400	Weak transcription	Fetal Heart	heart
14	chr15:76483600-76488400	Weak transcription	HSMM	muscle
15	chr15:76483600-76488600	Weak transcription	K562	blood
16	chr15:76483600-76493400	Enhancers	Stomach Mucosa	stomach
17	chr15:76483800-76486000	Weak transcription	HepG2	liver
18	chr15:76483800-76486400	Weak transcription	A549	lung
19	chr15:76483800-76486600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr15:76483800-76486600	Weak transcription	Hela-S3	cervix
21	chr15:76483800-76487800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr15:76483800-76488000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr15:76483800-76488400	Weak transcription	Brain Anterior Caudate	brain
24	chr15:76483800-76488400	Weak transcription	HMEC	breast
25	chr15:76483800-76488400	Weak transcription	NHDF-Ad	bronchial
26	chr15:76483800-76491800	Weak transcription	Liver	Liver
27	chr15:76484000-76486000	Weak transcription	Esophagus	oesophagus
28	chr15:76484000-76488200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr15:76484000-76488400	Weak transcription	Ovary	ovary
30	chr15:76484000-76498600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr15:76484000-76500800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr15:76484200-76486600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr15:76484200-76488400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr15:76484200-76488600	Weak transcription	Primary B cells from cord blood	blood
35	chr15:76484200-76488600	Weak transcription	Pancreas	Pancrea
36	chr15:76484200-76498200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr15:76484400-76488400	Weak transcription	Right Ventricle	heart
38	chr15:76484600-76486600	Weak transcription	Gastric	stomach
39	chr15:76484600-76489200	Weak transcription	GM12878-XiMat	blood
40	chr15:76484800-76486000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr15:76484800-76486200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:76484800-76488600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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