Variant report

Variant	rs8050055
Chromosome Location	chr16:31715688-31715689
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31713818-31716132	GM12878	blood:	n/a	n/a
2	POLR2A	chr16:31715536-31715694	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr16:31715527-31715743	K562	blood:	n/a	n/a
4	POLR2A	chr16:31715501-31715718	GM12878	blood:	n/a	n/a
5	POLR2A	chr16:31715451-31715971	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:31715130-31726933	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:31711697..31713658-chr16:31714336..31716806,2	MCF-7	breast:
2	chr16:31467446..31470732-chr16:31710400..31715735,8	MCF-7	breast:
3	chr16:31468309..31472565-chr16:31709404..31716221,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260568	TF binding region
CLUHP3	TF binding region
ENSG00000260267	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000260568	Chromatin interaction
ENSG00000131797	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1354994	1.00[AMR][1000 genomes]
rs1395526	1.00[AMR][1000 genomes]
rs1876507	1.00[AMR][1000 genomes]
rs3905907	1.00[AMR][1000 genomes]
rs3913869	1.00[AMR][1000 genomes]
rs4889561	1.00[AMR][1000 genomes]
rs55771542	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55801950	1.00[AMR][1000 genomes]
rs56007329	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56279146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58461706	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61467517	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565283	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565292	1.00[AMR][1000 genomes]
rs7193710	1.00[AMR][1000 genomes]
rs74015561	1.00[AMR][1000 genomes]
rs74017509	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017517	1.00[AMR][1000 genomes]
rs74017519	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017525	0.83[AFR][1000 genomes]
rs74017527	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017528	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017533	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017534	1.00[AMR][1000 genomes]
rs8044900	1.00[AMR][1000 genomes]
rs8047836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8049984	1.00[AMR][1000 genomes]
rs8050193	1.00[AMR][1000 genomes]
rs8050428	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8050437	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8052997	1.00[AMR][1000 genomes]
rs8055446	1.00[AMR][1000 genomes]
rs8057397	1.00[AMR][1000 genomes]
rs8062868	1.00[AMR][1000 genomes]
rs9928474	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
2	esv3344221	chr16:31526786-31821640	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	esv3323903	chr16:31526802-31821640	Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv3504445	chr16:31526873-31821580	Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	esv3504446	chr16:31526873-31821580	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3366795	chr16:31534951-31827424	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
7	nsv833195	chr16:31576112-31763222	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1057598	chr16:31608831-31726446	Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv1067321	chr16:31652036-31959992	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	nsv918074	chr16:31669781-31935033	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv1063037	chr16:31669981-31934894	Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv542903	chr16:31669981-31934894	Flanking Active TSS Weak transcription Enhancers Strong 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	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31712600-31724200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr16:31712600-31724200	Weak transcription	Psoas Muscle	Psoas
3	chr16:31712600-31724200	Weak transcription	HSMM	muscle
4	chr16:31712800-31724200	Weak transcription	HSMMtube	muscle
5	chr16:31712800-31724200	Weak transcription	NHDF-Ad	bronchial
6	chr16:31712800-31724400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr16:31712800-31724600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr16:31713000-31716400	Weak transcription	Osteobl	bone
9	chr16:31713000-31724400	Weak transcription	Right Atrium	heart
10	chr16:31713200-31724000	Weak transcription	Fetal Heart	heart
11	chr16:31713200-31724200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr16:31713400-31720000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:31713400-31720800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr16:31713400-31722400	Strong transcription	Fetal Intestine Small	intestine
15	chr16:31713400-31724000	Weak transcription	K562	blood
16	chr16:31713400-31724200	Weak transcription	Fetal Brain Male	brain
17	chr16:31713600-31717000	Weak transcription	Stomach Mucosa	stomach
18	chr16:31713600-31718800	Strong transcription	Primary T cells from cord blood	blood
19	chr16:31713600-31720800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr16:31713600-31722200	Strong transcription	Stomach Smooth Muscle	stomach
21	chr16:31713800-31715800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr16:31713800-31716400	Strong transcription	Primary B cells from cord blood	blood
23	chr16:31713800-31718200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr16:31713800-31719000	Strong transcription	Thymus	Thymus
25	chr16:31713800-31719200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr16:31713800-31720000	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr16:31713800-31720000	Strong transcription	Colonic Mucosa	Colon
28	chr16:31713800-31720400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr16:31713800-31720800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr16:31713800-31721400	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr16:31713800-31721400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr16:31713800-31721600	Strong transcription	Primary B cells from peripheral blood	blood
33	chr16:31713800-31721800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr16:31713800-31722200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr16:31713800-31722600	Strong transcription	Fetal Stomach	stomach
36	chr16:31714000-31716200	Strong transcription	Primary hematopoietic stem cells	blood
37	chr16:31714000-31719200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr16:31714000-31719200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr16:31714000-31719200	Strong transcription	Fetal Thymus	thymus
40	chr16:31714000-31719400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr16:31714000-31720400	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr16:31714000-31720400	Strong transcription	Rectal Smooth Muscle	rectum
43	chr16:31714000-31720400	Strong transcription	NHEK	skin
44	chr16:31714000-31720600	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr16:31714000-31720600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr16:31714000-31720600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr16:31714000-31720800	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr16:31714000-31720800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr16:31714000-31720800	Strong transcription	Brain Anterior Caudate	brain
50	chr16:31714000-31720800	Strong transcription	Skeletal Muscle Male	skeletal muscle

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