Variant report

Variant	rs56043981
Chromosome Location	chr16:70369504-70369505
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70368628..70371487-chr16:70373484..70375931,2	MCF-7	breast:
2	chr16:70365572..70369615-chr16:70370399..70374531,4	K562	blood:
3	chr16:70367181..70369957-chr16:70373031..70374921,2	K562	blood:
4	chr16:70369367..70371961-chr16:70371980..70374607,2	MCF-7	breast:

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs11537667	0.89[AFR][1000 genomes]
rs11859257	0.83[AFR][1000 genomes]
rs11859827	0.96[AFR][1000 genomes]
rs11860870	0.99[AFR][1000 genomes]
rs11862053	0.91[AFR][1000 genomes]
rs11862150	0.85[AFR][1000 genomes]
rs11862188	0.85[AFR][1000 genomes]
rs11864326	0.81[AMR][1000 genomes]
rs11865564	0.81[AMR][1000 genomes]
rs11866378	0.93[AFR][1000 genomes]
rs11866451	0.84[AFR][1000 genomes]
rs16970141	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16970147	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970159	0.81[AMR][1000 genomes]
rs16970169	0.81[AMR][1000 genomes]
rs16970361	0.91[AFR][1000 genomes]
rs16970609	0.98[AFR][1000 genomes]
rs17878609	0.81[AMR][1000 genomes]
rs17880268	0.81[AMR][1000 genomes]
rs17886064	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4999488	0.81[AMR][1000 genomes]
rs55657328	0.91[AFR][1000 genomes]
rs55805938	0.93[AFR][1000 genomes]
rs55819743	0.85[AFR][1000 genomes]
rs55936739	0.91[AFR][1000 genomes]
rs56090000	0.96[AFR][1000 genomes]
rs56096542	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56217164	0.98[AFR][1000 genomes]
rs56234537	0.98[AFR][1000 genomes]
rs56980444	0.89[AMR][1000 genomes]
rs57150196	0.81[AMR][1000 genomes]
rs57279408	0.98[AFR][1000 genomes]
rs57320283	0.84[AFR][1000 genomes]
rs57422630	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57623576	0.98[AFR][1000 genomes]
rs58055772	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58131227	0.89[AFR][1000 genomes]
rs58319566	0.84[AFR][1000 genomes]
rs58328210	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59260159	0.81[AMR][1000 genomes]
rs59384897	0.93[AFR][1000 genomes]
rs59612351	0.86[AFR][1000 genomes]
rs59791510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59849898	0.89[AFR][1000 genomes]
rs59928915	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs60103946	0.89[AFR][1000 genomes]
rs60426209	0.93[AFR][1000 genomes]
rs60523557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60841206	0.84[AFR][1000 genomes]
rs61172065	0.94[AFR][1000 genomes]
rs61266247	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs61319691	0.81[AMR][1000 genomes]
rs61391917	0.98[AFR][1000 genomes]
rs61594809	0.93[AFR][1000 genomes]
rs6499309	0.89[AFR][1000 genomes]
rs6499314	0.81[AMR][1000 genomes]
rs7184248	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7185665	0.93[AFR][1000 genomes]
rs7186024	0.93[AFR][1000 genomes]
rs7190921	0.92[AFR][1000 genomes]
rs7195567	1.00[AFR][1000 genomes]
rs7199346	0.81[AMR][1000 genomes]
rs7203772	0.90[AMR][1000 genomes]
rs7204800	0.96[AFR][1000 genomes]
rs7205871	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7205990	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7206347	0.81[AMR][1000 genomes]
rs74024176	0.83[AFR][1000 genomes]
rs74024180	0.89[AFR][1000 genomes]
rs74024182	0.85[AFR][1000 genomes]
rs74024184	0.91[AFR][1000 genomes]
rs74024185	0.91[AFR][1000 genomes]
rs74024186	0.93[AFR][1000 genomes]
rs74024187	0.93[AFR][1000 genomes]
rs74024191	0.93[AFR][1000 genomes]
rs74024193	0.97[AFR][1000 genomes]
rs74024196	0.98[AFR][1000 genomes]
rs74024199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026022	0.81[AMR][1000 genomes]
rs74026033	0.81[AMR][1000 genomes]
rs8045571	0.85[AFR][1000 genomes]
rs8046253	0.81[AMR][1000 genomes]
rs8046280	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8046662	0.87[AFR][1000 genomes]
rs8049046	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8050252	0.81[AMR][1000 genomes]
rs8051869	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053657	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8056811	0.81[AMR][1000 genomes]
rs8062602	0.81[AMR][1000 genomes]
rs8063749	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906871	chr16:70302333-70375873	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	esv3390669	chr16:70363244-70400179	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr16:70334200-70379800	Weak transcription	Stomach Mucosa	stomach
2	chr16:70335800-70374200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr16:70346200-70376000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:70346400-70369600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr16:70347400-70371000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:70348200-70371000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr16:70348400-70371000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr16:70348800-70370600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr16:70348800-70371000	Strong transcription	Liver	Liver
10	chr16:70349400-70370600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:70349400-70371200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr16:70349400-70372000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr16:70349600-70379800	Weak transcription	Fetal Brain Male	brain
14	chr16:70349800-70370400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr16:70349800-70372600	Strong transcription	Fetal Muscle Trunk	muscle
16	chr16:70349800-70373200	Strong transcription	Fetal Stomach	stomach
17	chr16:70349800-70374600	Strong transcription	Fetal Muscle Leg	muscle
18	chr16:70350600-70369800	Strong transcription	Fetal Brain Female	brain
19	chr16:70352800-70373000	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr16:70356600-70370600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr16:70356800-70370200	Strong transcription	Placenta	Placenta
22	chr16:70357200-70380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr16:70357800-70370200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr16:70359000-70370000	Strong transcription	Primary B cells from peripheral blood	blood
25	chr16:70359000-70370800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr16:70360000-70371000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr16:70360000-70373000	Strong transcription	Fetal Intestine Small	intestine
28	chr16:70361000-70369600	Strong transcription	Fetal Intestine Large	intestine
29	chr16:70361400-70369800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr16:70361400-70369800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:70362800-70370600	Strong transcription	Spleen	Spleen
32	chr16:70363000-70369600	Strong transcription	Adipose Nuclei	Adipose
33	chr16:70363200-70369600	Strong transcription	Lung	lung
34	chr16:70363200-70369800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr16:70363200-70370000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr16:70363200-70370600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr16:70363200-70370600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr16:70363200-70370600	Strong transcription	Brain Germinal Matrix	brain
39	chr16:70363200-70371000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr16:70363200-70371200	Strong transcription	Fetal Thymus	thymus
41	chr16:70363200-70372400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr16:70363200-70374400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr16:70363400-70369600	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr16:70363400-70369600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr16:70363400-70369600	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr16:70363400-70369800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr16:70363400-70370000	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr16:70363400-70370800	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr16:70363400-70371000	Strong transcription	Thymus	Thymus
50	chr16:70363600-70370600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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