Variant report

Variant	rs16957431
Chromosome Location	chr15:43395847-43395848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43394707..43396213-chr15:43401061..43403612,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10518793	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.81[ASN][1000 genomes]
rs13329192	1.00[CEU][hapmap]
rs16957277	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs16957379	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17720890	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17777687	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2035169	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2271962	0.83[ASN][1000 genomes]
rs28592140	0.81[ASN][1000 genomes]
rs28605464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28620443	0.84[AMR][1000 genomes]
rs28691150	0.83[ASN][1000 genomes]
rs28723492	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap]
rs28811106	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs28845921	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv569240	chr15:43201109-43445305	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv569242	chr15:43210030-43445305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv904136	chr15:43257475-43482127	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv904138	chr15:43268970-43414673	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv904139	chr15:43268970-43482127	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
11	nsv904142	chr15:43276345-43403955	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv904143	chr15:43276345-43414673	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv904144	chr15:43276345-43482127	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	nsv904146	chr15:43294218-43414673	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv904147	chr15:43309429-43403955	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	esv1802035	chr15:43370916-43487742	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43269200-43397200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:43303400-43397400	Weak transcription	Esophagus	oesophagus
3	chr15:43348400-43397400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:43353000-43397400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr15:43373200-43397200	Weak transcription	Fetal Brain Male	brain
6	chr15:43373600-43396600	Weak transcription	Pancreas	Pancrea
7	chr15:43375400-43396600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr15:43376600-43397200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr15:43376800-43396400	Weak transcription	Fetal Kidney	kidney
10	chr15:43376800-43396600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:43377600-43397200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:43377600-43397200	Weak transcription	Colonic Mucosa	Colon
13	chr15:43379000-43396600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr15:43382200-43396600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr15:43385800-43397400	Weak transcription	Lung	lung
16	chr15:43386000-43397400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:43386000-43397400	Weak transcription	Aorta	Aorta
18	chr15:43386000-43397400	Weak transcription	Ovary	ovary
19	chr15:43386200-43396200	Weak transcription	GM12878-XiMat	blood
20	chr15:43386400-43396600	Weak transcription	Left Ventricle	heart
21	chr15:43386600-43396600	Weak transcription	Right Ventricle	heart
22	chr15:43388000-43396600	Weak transcription	A549	lung
23	chr15:43388800-43397600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr15:43389200-43396000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:43389200-43396600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:43390000-43397600	Weak transcription	Spleen	Spleen
27	chr15:43391000-43397200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:43391200-43396600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr15:43391200-43396600	Weak transcription	Brain Substantia Nigra	brain
30	chr15:43391800-43396000	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr15:43391800-43396200	Strong transcription	Osteobl	bone
32	chr15:43392200-43396400	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr15:43392400-43396000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:43392400-43396600	Strong transcription	Primary hematopoietic stem cells	blood
35	chr15:43393000-43396200	Genic enhancers	K562	blood
36	chr15:43393000-43396600	Genic enhancers	Dnd41	blood
37	chr15:43393400-43396000	Enhancers	Psoas Muscle	Psoas
38	chr15:43393400-43396200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr15:43393400-43396400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:43393400-43396600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr15:43393400-43397200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr15:43393400-43397200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr15:43393400-43397400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr15:43393400-43397400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr15:43393600-43396000	Weak transcription	Stomach Mucosa	stomach
46	chr15:43393600-43396600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr15:43393600-43396600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr15:43393600-43396600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr15:43393600-43396600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr15:43393600-43397400	Weak transcription	Gastric	stomach

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