Variant report

Variant	rs16957672
Chromosome Location	chr15:73470490-73470491
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73470429..73472525-chr15:73486517..73489040,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs55742918	1.00[AMR][1000 genomes]
rs56104737	1.00[AMR][1000 genomes]
rs56740080	1.00[AMR][1000 genomes]
rs56800157	1.00[AMR][1000 genomes]
rs56955644	1.00[AMR][1000 genomes]
rs57026130	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57084669	0.86[AFR][1000 genomes]
rs57104045	1.00[AFR][1000 genomes]
rs58181983	1.00[AMR][1000 genomes]
rs59520398	1.00[AFR][1000 genomes]
rs59599041	1.00[AMR][1000 genomes]
rs59852601	1.00[AMR][1000 genomes]
rs59987305	1.00[AMR][1000 genomes]
rs60317955	1.00[AFR][1000 genomes]
rs60414643	1.00[AMR][1000 genomes]
rs60596031	0.95[AFR][1000 genomes]
rs61658575	1.00[AMR][1000 genomes]
rs62641690	1.00[AFR][1000 genomes]
rs74022927	1.00[AMR][1000 genomes]
rs74022930	0.95[AFR][1000 genomes]
rs74022931	1.00[AFR][1000 genomes]
rs74022932	0.85[AFR][1000 genomes]
rs74022955	0.82[AFR][1000 genomes]
rs74025258	1.00[AMR][1000 genomes]
rs74025266	1.00[AMR][1000 genomes]
rs74025267	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	nsv904338	chr15:73313691-73483718	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv517966	chr15:73349633-73488753	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv525462	chr15:73349633-73563495	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv904339	chr15:73375847-73483718	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv904340	chr15:73375847-73524629	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv904341	chr15:73390790-73483718	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv904342	chr15:73390790-73524629	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv904343	chr15:73396760-73775043	Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73401400-73480200	Weak transcription	Right Ventricle	heart
2	chr15:73450000-73475400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr15:73450000-73477400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr15:73454600-73483000	Weak transcription	Colon Smooth Muscle	Colon
5	chr15:73454800-73471600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr15:73455000-73473800	Weak transcription	Fetal Stomach	stomach
7	chr15:73455200-73500400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr15:73457600-73470600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr15:73458600-73473200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:73458600-73478000	Weak transcription	Colonic Mucosa	Colon
11	chr15:73459000-73470600	Weak transcription	Fetal Kidney	kidney
12	chr15:73459000-73472400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr15:73459000-73482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:73459200-73471600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr15:73459200-73473800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:73459200-73473800	Weak transcription	Fetal Intestine Small	intestine
17	chr15:73459400-73473400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr15:73460800-73472400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr15:73462400-73473800	Weak transcription	Fetal Brain Female	brain
20	chr15:73466200-73473800	Weak transcription	Esophagus	oesophagus
21	chr15:73466800-73470600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr15:73466800-73471600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:73466800-73471800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr15:73466800-73473800	Weak transcription	Fetal Muscle Leg	muscle
25	chr15:73466800-73482000	Weak transcription	Psoas Muscle	Psoas
26	chr15:73467000-73473800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr15:73467000-73473800	Weak transcription	Aorta	Aorta
28	chr15:73467000-73473800	Weak transcription	Gastric	stomach
29	chr15:73467200-73473800	Weak transcription	Pancreas	Pancrea
30	chr15:73467400-73473600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr15:73467600-73473200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr15:73467600-73473800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr15:73467800-73475200	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr15:73467800-73476800	Weak transcription	Fetal Brain Male	brain
35	chr15:73468000-73475400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr15:73468200-73472600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr15:73468200-73473600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr15:73468200-73473800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr15:73468200-73475000	Weak transcription	Brain Substantia Nigra	brain
40	chr15:73468400-73475000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr15:73468400-73475600	Weak transcription	Brain Hippocampus Middle	brain
42	chr15:73468600-73471400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr15:73468600-73476200	Weak transcription	Small Intestine	intestine
44	chr15:73468600-73481200	Weak transcription	Lung	lung
45	chr15:73468800-73472000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr15:73468800-73472800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:73468800-73475400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr15:73469000-73470600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr15:73469000-73470800	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr15:73469000-73471000	Strong transcription	HUES48 Cell Line	embryonic stem cell

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