Variant report

Variant	rs16970121
Chromosome Location	chr16:70383513-70383514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70383321-70383764	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:70383140-70383629	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:70383176-70383674	K562	blood:	n/a	n/a
4	POLR2A	chr16:70383272-70383743	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70383005..70385826-chr16:70388585..70390141,2	MCF-7	breast:
2	chr16:70379447..70384942-chr16:70556059..70561583,7	K562	blood:
3	chr16:70365097..70367956-chr16:70382920..70385112,3	K562	blood:
4	chr16:70383049..70384723-chr16:70430171..70432372,2	K562	blood:
5	chr16:70375788..70377818-chr16:70381402..70383532,2	K562	blood:
6	chr16:70380932..70385143-chr16:70404657..70409914,6	MCF-7	breast:
7	chr16:70381202..70383601-chr16:70463470..70465382,2	K562	blood:
8	chr16:70382796..70385300-chr16:70408811..70411389,2	K562	blood:
9	chr16:70381919..70383634-chr16:70512388..70514213,2	K562	blood:
10	chr16:70380684..70382606-chr16:70382776..70384424,3	MCF-7	breast:
11	chr16:70382995..70385484-chr16:70556876..70560677,3	MCF-7	breast:
12	chr16:70378223..70384231-chr16:70413255..70416872,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261777	TF binding region
ENSG00000189091	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000168872	Chromatin interaction
ENSG00000260111	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs11859191	1.00[EUR][1000 genomes]
rs11859870	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11860870	1.00[MEX][hapmap]
rs11861486	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11862053	1.00[MEX][hapmap]
rs11862150	1.00[EUR][1000 genomes]
rs11862188	1.00[EUR][1000 genomes]
rs11863128	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11863943	1.00[MEX][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11864179	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11864326	0.84[AMR][1000 genomes]
rs11865484	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11865564	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970133	1.00[ASW][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970141	1.00[MEX][hapmap]
rs16970147	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs16970149	0.92[AMR][1000 genomes]
rs16970151	1.00[MEX][hapmap];0.92[AMR][1000 genomes]
rs16970152	1.00[MEX][hapmap];0.92[AMR][1000 genomes]
rs16970153	0.92[AMR][1000 genomes]
rs16970159	1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs16970165	1.00[MEX][hapmap];0.92[AMR][1000 genomes]
rs16970169	1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs16970302	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16970361	1.00[MEX][hapmap]
rs17878609	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17878832	1.00[EUR][1000 genomes]
rs17879665	0.92[AMR][1000 genomes]
rs17880242	1.00[EUR][1000 genomes]
rs17880268	1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs17881069	1.00[EUR][1000 genomes]
rs17881219	1.00[MEX][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17882471	1.00[MEX][hapmap]
rs17883309	1.00[EUR][1000 genomes]
rs17886064	1.00[EUR][1000 genomes]
rs3096368	1.00[EUR][1000 genomes]
rs35904382	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4999488	0.84[AMR][1000 genomes]
rs55657328	1.00[EUR][1000 genomes]
rs55769835	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55775924	0.92[AMR][1000 genomes]
rs55805938	1.00[EUR][1000 genomes]
rs55819743	1.00[EUR][1000 genomes]
rs55916527	0.92[AMR][1000 genomes]
rs55936739	1.00[EUR][1000 genomes]
rs56050266	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56082018	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56348821	0.92[AMR][1000 genomes]
rs56836664	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56980444	1.00[EUR][1000 genomes]
rs57150196	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs57422630	1.00[EUR][1000 genomes]
rs57492770	0.84[AFR][1000 genomes]
rs58047061	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58131227	1.00[EUR][1000 genomes]
rs58328210	1.00[EUR][1000 genomes]
rs58434182	0.83[AFR][1000 genomes]
rs58467558	1.00[EUR][1000 genomes]
rs59260159	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs59384897	1.00[EUR][1000 genomes]
rs59552467	0.92[AMR][1000 genomes]
rs59612351	1.00[EUR][1000 genomes]
rs60011151	0.92[AMR][1000 genomes]
rs60045805	0.85[AMR][1000 genomes]
rs60387488	0.92[AMR][1000 genomes]
rs60426209	1.00[EUR][1000 genomes]
rs60646112	0.92[AMR][1000 genomes]
rs60815141	1.00[EUR][1000 genomes]
rs61284127	0.92[AMR][1000 genomes]
rs61319691	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61369696	0.92[AMR][1000 genomes]
rs6499312	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6499313	1.00[EUR][1000 genomes]
rs6499314	1.00[MEX][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6499315	1.00[EUR][1000 genomes]
rs7188864	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7189535	1.00[MEX][hapmap]
rs7190536	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7190921	1.00[EUR][1000 genomes]
rs7192000	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs7195086	1.00[MEX][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7195104	0.92[AMR][1000 genomes]
rs7195567	1.00[MEX][hapmap]
rs7196392	1.00[MEX][hapmap]
rs7198871	0.93[ASW][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.96[YRI][hapmap];1.00[EUR][1000 genomes]
rs7199145	1.00[MEX][hapmap]
rs7199346	1.00[MEX][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199655	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203548	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7203761	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7203772	0.93[ASW][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes]
rs7205918	0.86[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];1.00[EUR][1000 genomes]
rs7205990	1.00[MEX][hapmap]
rs7206347	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024182	1.00[EUR][1000 genomes]
rs74024183	1.00[EUR][1000 genomes]
rs74024184	1.00[EUR][1000 genomes]
rs74024185	1.00[EUR][1000 genomes]
rs74024186	1.00[EUR][1000 genomes]
rs74024188	1.00[EUR][1000 genomes]
rs74026022	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74026026	0.92[AMR][1000 genomes]
rs74026033	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74026049	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8045571	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs8046253	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8046662	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs8046786	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs8049046	1.00[EUR][1000 genomes]
rs8049316	1.00[MEX][hapmap]
rs8050252	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs8053657	1.00[EUR][1000 genomes]
rs8053883	1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs8054203	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8055338	1.00[MEX][hapmap]
rs8056811	0.93[ASW][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8058735	0.92[AMR][1000 genomes]
rs8062602	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8064090	1.00[EUR][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	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	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
3	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70381200-70386200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:70381200-70388800	Weak transcription	Spleen	Spleen
3	chr16:70381200-70389200	Weak transcription	Gastric	stomach
4	chr16:70381400-70386600	Weak transcription	Esophagus	oesophagus
5	chr16:70381400-70389000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:70381400-70394400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:70381600-70383600	Enhancers	Fetal Heart	heart
8	chr16:70381600-70383800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr16:70381600-70384000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr16:70381600-70384400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr16:70381600-70388600	Weak transcription	Aorta	Aorta
12	chr16:70381600-70388600	Weak transcription	Brain Substantia Nigra	brain
13	chr16:70381600-70389000	Weak transcription	Ovary	ovary
14	chr16:70381600-70389200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr16:70381600-70392600	Weak transcription	Fetal Kidney	kidney
16	chr16:70381600-70413200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr16:70381600-70414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr16:70381800-70383600	Genic enhancers	Fetal Muscle Trunk	muscle
19	chr16:70381800-70383600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr16:70381800-70389000	Weak transcription	HSMMtube	muscle
21	chr16:70382000-70384200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr16:70382000-70387800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr16:70382000-70388600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr16:70382000-70388800	Weak transcription	Colonic Mucosa	Colon
25	chr16:70382200-70383600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr16:70382200-70383600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:70382200-70383600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr16:70382200-70384200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr16:70382200-70385000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr16:70382200-70385200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr16:70382200-70385800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr16:70382200-70385800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr16:70382200-70386600	Weak transcription	NHLF	lung
34	chr16:70382200-70388400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr16:70382200-70388600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr16:70382200-70388600	Weak transcription	NH-A	brain
37	chr16:70382200-70389000	Weak transcription	Fetal Brain Male	brain
38	chr16:70382200-70389000	Weak transcription	GM12878-XiMat	blood
39	chr16:70382200-70389000	Weak transcription	HUVEC	blood vessel
40	chr16:70382200-70389200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr16:70382200-70389200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr16:70382200-70389400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr16:70382200-70390200	Weak transcription	Stomach Mucosa	stomach
44	chr16:70382200-70392800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr16:70382200-70413600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:70382400-70383600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr16:70382400-70383600	Strong transcription	Fetal Intestine Small	intestine
48	chr16:70382400-70383800	Genic enhancers	K562	blood
49	chr16:70382400-70384000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr16:70382400-70384400	Weak transcription	Thymus	Thymus

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