Variant report

Variant	rs16970141
Chromosome Location	chr16:70417764-70417765
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70413028..70417887-chr16:70485225..70490092,12	MCF-7	breast:
2	chr16:70416879..70419217-chr16:70428815..70431051,2	K562	blood:
3	chr16:70413177..70417869-chr16:70554702..70561133,15	MCF-7	breast:
4	chr16:70413020..70418181-chr16:70497448..70510572,26	MCF-7	breast:
5	chr16:70411913..70419512-chr16:70432088..70435360,7	MCF-7	breast:
6	chr16:70408723..70414559-chr16:70414602..70419341,6	K562	blood:

Variant related genes	Relation type
ENSG00000189091	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000157350	Chromatin interaction
ENSG00000260111	Chromatin interaction
ENSG00000157353	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs11537667	1.00[ASW][hapmap];0.82[LWK][hapmap];0.90[YRI][hapmap]
rs11860870	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs11862053	1.00[ASW][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap]
rs11863943	0.91[ASW][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes]
rs11864179	0.83[AMR][1000 genomes]
rs11864326	0.82[AFR][1000 genomes]
rs11865484	0.83[AMR][1000 genomes]
rs11865564	0.81[AFR][1000 genomes]
rs11866378	0.90[YRI][hapmap]
rs16970121	1.00[MEX][hapmap]
rs16970133	1.00[MEX][hapmap]
rs16970147	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16970149	0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16970151	0.91[ASW][hapmap];1.00[MEX][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16970152	0.91[ASW][hapmap];1.00[MEX][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16970153	0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16970159	0.91[ASW][hapmap];1.00[MEX][hapmap];0.81[YRI][hapmap]
rs16970165	0.91[ASW][hapmap];1.00[MEX][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16970169	0.91[ASW][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap]
rs16970302	1.00[MEX][hapmap]
rs16970361	1.00[ASW][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap]
rs16970609	1.00[ASW][hapmap];0.85[LWK][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs17879665	0.83[AMR][1000 genomes]
rs17880268	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs17881219	1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs17882471	1.00[MEX][hapmap]
rs17886064	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs55769835	0.83[AMR][1000 genomes]
rs55775924	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55916527	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56043981	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs56082018	0.83[AMR][1000 genomes]
rs56096542	0.90[AMR][1000 genomes]
rs56217164	0.81[AFR][1000 genomes]
rs56234537	0.81[AFR][1000 genomes]
rs56348821	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57150196	0.91[AMR][1000 genomes]
rs57279408	0.81[AFR][1000 genomes]
rs57422630	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs57623576	0.81[AFR][1000 genomes]
rs58055772	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs58328210	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs59260159	0.91[AMR][1000 genomes]
rs59552467	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59791510	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs59928915	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60011151	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60387488	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60523557	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs60646112	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61266247	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61284127	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61319691	0.81[AFR][1000 genomes]
rs61369696	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61391917	0.81[AFR][1000 genomes]
rs6499314	1.00[ASW][hapmap];1.00[MEX][hapmap];0.81[YRI][hapmap]
rs7184248	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7189535	1.00[MEX][hapmap]
rs7190536	0.83[AMR][1000 genomes]
rs7190921	0.90[YRI][hapmap]
rs7192000	1.00[MEX][hapmap]
rs7195086	0.91[ASW][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes]
rs7195104	0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7195567	1.00[ASW][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs7196392	0.80[ASW][hapmap];1.00[MEX][hapmap]
rs7198871	1.00[MEX][hapmap];0.83[YRI][hapmap]
rs7199145	1.00[MEX][hapmap]
rs7199346	1.00[ASW][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap]
rs7203761	1.00[MEX][hapmap]
rs7203772	1.00[MEX][hapmap];0.80[AMR][1000 genomes]
rs7205871	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7205918	1.00[MEX][hapmap]
rs7205990	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7206347	0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs74024196	0.81[AFR][1000 genomes]
rs74024199	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74024200	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74026022	0.91[AMR][1000 genomes]
rs74026026	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74026049	0.83[AMR][1000 genomes]
rs8045571	0.82[ASW][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap]
rs8046253	0.91[AMR][1000 genomes]
rs8046280	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8046662	0.82[ASW][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap]
rs8049046	0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8049316	1.00[MEX][hapmap]
rs8050252	0.91[AMR][1000 genomes]
rs8051869	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8053040	0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8053657	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053883	0.91[ASW][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap]
rs8055338	1.00[MEX][hapmap]
rs8056811	1.00[MEX][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes]
rs8058735	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8062602	0.81[AFR][1000 genomes]
rs8063749	0.90[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70415800-70427600	Weak transcription	Fetal Kidney	kidney
2	chr16:70415800-70442000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:70416000-70419200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr16:70416000-70420400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:70416000-70420600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr16:70416000-70420600	Weak transcription	Aorta	Aorta
7	chr16:70416000-70421000	Weak transcription	Left Ventricle	heart
8	chr16:70416000-70421200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr16:70416000-70421200	Weak transcription	NH-A	brain
10	chr16:70416000-70421600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr16:70416000-70421600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr16:70416000-70421600	Weak transcription	Ovary	ovary
13	chr16:70416000-70421600	Weak transcription	Psoas Muscle	Psoas
14	chr16:70416000-70421800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr16:70416000-70421800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr16:70416000-70421800	Weak transcription	Lung	lung
17	chr16:70416000-70422000	Weak transcription	NHDF-Ad	bronchial
18	chr16:70416000-70422000	Weak transcription	NHLF	lung
19	chr16:70416000-70422200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr16:70416000-70424400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr16:70416000-70425000	Weak transcription	Right Atrium	heart
22	chr16:70416000-70425800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:70416000-70425800	Weak transcription	Colon Smooth Muscle	Colon
24	chr16:70416000-70425800	Weak transcription	Osteobl	bone
25	chr16:70416000-70429200	Weak transcription	Colonic Mucosa	Colon
26	chr16:70416000-70429400	Weak transcription	Pancreas	Pancrea
27	chr16:70416000-70430000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr16:70416000-70432200	Weak transcription	Gastric	stomach
29	chr16:70416000-70433400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr16:70416000-70435000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr16:70416000-70435600	Strong transcription	Fetal Stomach	stomach
32	chr16:70416000-70437600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr16:70416000-70438000	Weak transcription	Small Intestine	intestine
34	chr16:70416000-70438000	Weak transcription	HUVEC	blood vessel
35	chr16:70416200-70418200	Weak transcription	Adipose Nuclei	Adipose
36	chr16:70416200-70418400	Strong transcription	Fetal Muscle Leg	muscle
37	chr16:70416200-70419200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr16:70416200-70419200	Weak transcription	Liver	Liver
39	chr16:70416200-70419200	Weak transcription	GM12878-XiMat	blood
40	chr16:70416200-70419400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr16:70416200-70419400	Weak transcription	Primary T cells from cord blood	blood
42	chr16:70416200-70421000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr16:70416200-70421000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr16:70416200-70421000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr16:70416200-70421000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr16:70416200-70421000	Weak transcription	Brain Germinal Matrix	brain
47	chr16:70416200-70421000	Weak transcription	Brain Hippocampus Middle	brain
48	chr16:70416200-70421200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr16:70416200-70421200	Weak transcription	Right Ventricle	heart
50	chr16:70416200-70421600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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