Variant report

Variant	rs56836664
Chromosome Location	chr16:70377932-70377933
allele	C/T
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	CEBPB	chr16:70377835-70377982	A549	lung:	n/a	chr16:70377945-70377956
2	CEBPB	chr16:70377861-70377993	K562	blood:	n/a	chr16:70377945-70377956
3	CEBPB	chr16:70377878-70377990	HepG2	liver:	n/a	chr16:70377945-70377956
4	POLR2A	chr16:70377673-70377989	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:70322056..70324677-chr16:70375656..70378564,3	K562	blood:
2	chr16:70374149..70377957-chr16:70378674..70382168,7	MCF-7	breast:
3	chr16:70338862..70341028-chr16:70375885..70378298,2	MCF-7	breast:

Variant related genes	Relation type
DDX19A	TF binding region
ENSG00000261777	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000168872	Chromatin interaction
ENSG00000090861	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11859870	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11861486	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11863128	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11863943	0.92[AMR][1000 genomes]
rs11864179	0.92[AMR][1000 genomes]
rs11864326	0.84[AMR][1000 genomes]
rs11865484	0.92[AMR][1000 genomes]
rs11865564	0.84[AMR][1000 genomes]
rs16970121	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970133	1.00[AMR][1000 genomes]
rs16970149	0.92[AMR][1000 genomes]
rs16970151	0.92[AMR][1000 genomes]
rs16970152	0.92[AMR][1000 genomes]
rs16970153	0.92[AMR][1000 genomes]
rs16970159	0.84[AMR][1000 genomes]
rs16970165	0.92[AMR][1000 genomes]
rs16970169	0.84[AMR][1000 genomes]
rs16970302	0.81[AFR][1000 genomes]
rs17878609	0.84[AMR][1000 genomes]
rs17879665	0.92[AMR][1000 genomes]
rs17880268	0.84[AMR][1000 genomes]
rs17881219	0.92[AMR][1000 genomes]
rs35904382	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4999488	0.84[AMR][1000 genomes]
rs55769835	0.92[AMR][1000 genomes]
rs55775924	0.92[AMR][1000 genomes]
rs55916527	0.92[AMR][1000 genomes]
rs56050266	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56082018	0.92[AMR][1000 genomes]
rs56348821	0.92[AMR][1000 genomes]
rs57150196	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs57492770	0.88[AFR][1000 genomes]
rs58047061	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58434182	0.87[AFR][1000 genomes]
rs59260159	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs59552467	0.92[AMR][1000 genomes]
rs60011151	0.92[AMR][1000 genomes]
rs60045805	0.85[AMR][1000 genomes]
rs60387488	0.92[AMR][1000 genomes]
rs60646112	0.92[AMR][1000 genomes]
rs61284127	0.92[AMR][1000 genomes]
rs61319691	0.84[AMR][1000 genomes]
rs61369696	0.92[AMR][1000 genomes]
rs6499312	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499314	0.84[AMR][1000 genomes]
rs7188864	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7190536	0.92[AMR][1000 genomes]
rs7195086	0.92[AMR][1000 genomes]
rs7195104	0.92[AMR][1000 genomes]
rs7199346	0.84[AMR][1000 genomes]
rs7199655	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7203548	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7203761	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7203772	0.82[AFR][1000 genomes]
rs7206347	0.84[AMR][1000 genomes]
rs74024188	0.81[AFR][1000 genomes]
rs74026022	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs74026026	0.92[AMR][1000 genomes]
rs74026033	0.84[AMR][1000 genomes]
rs74026049	0.92[AMR][1000 genomes]
rs8046253	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs8046786	0.81[AFR][1000 genomes]
rs8050252	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs8053883	0.85[AMR][1000 genomes]
rs8054203	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056811	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs8058735	0.92[AMR][1000 genomes]
rs8062602	0.84[AMR][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:121 , 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	chr16:70349600-70379800	Weak transcription	Fetal Brain Male	brain
3	chr16:70357200-70380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:70368200-70380200	Weak transcription	Small Intestine	intestine
5	chr16:70368400-70379600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr16:70368400-70379800	Weak transcription	Hela-S3	cervix
7	chr16:70368800-70379800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:70368800-70379800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr16:70368800-70379800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr16:70369000-70379400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:70369000-70379600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr16:70369000-70379600	Weak transcription	A549	lung
13	chr16:70369000-70379800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr16:70369000-70379800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr16:70369000-70379800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr16:70369000-70379800	Weak transcription	Aorta	Aorta
17	chr16:70369000-70379800	Weak transcription	Colon Smooth Muscle	Colon
18	chr16:70369000-70379800	Weak transcription	Esophagus	oesophagus
19	chr16:70369000-70379800	Weak transcription	Fetal Kidney	kidney
20	chr16:70369000-70379800	Weak transcription	Fetal Lung	lung
21	chr16:70369000-70379800	Weak transcription	Gastric	stomach
22	chr16:70369000-70379800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr16:70369000-70379800	Weak transcription	HSMMtube	muscle
24	chr16:70369000-70379800	Weak transcription	NH-A	brain
25	chr16:70369000-70379800	Weak transcription	NHDF-Ad	bronchial
26	chr16:70369200-70379000	Weak transcription	HepG2	liver
27	chr16:70369200-70379200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr16:70369200-70379600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr16:70369200-70379600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr16:70369200-70379600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr16:70369200-70379600	Weak transcription	GM12878-XiMat	blood
32	chr16:70369200-70379600	Weak transcription	HMEC	breast
33	chr16:70369200-70379800	Weak transcription	Primary T cells from cord blood	blood
34	chr16:70369200-70379800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr16:70369200-70379800	Weak transcription	Brain Substantia Nigra	brain
36	chr16:70369400-70379200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr16:70369400-70379200	Weak transcription	Pancreas	Pancrea
38	chr16:70369400-70379600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr16:70369400-70379600	Weak transcription	Primary B cells from cord blood	blood
40	chr16:70369400-70379600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr16:70369400-70379600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr16:70369400-70379600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr16:70369400-70379600	Weak transcription	NHEK	skin
44	chr16:70369400-70379800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr16:70369400-70379800	Weak transcription	Brain Angular Gyrus	brain
46	chr16:70369400-70379800	Weak transcription	Brain Anterior Caudate	brain
47	chr16:70369400-70379800	Weak transcription	Colonic Mucosa	Colon
48	chr16:70369400-70379800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr16:70369400-70379800	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr16:70369400-70379800	Weak transcription	NHLF	lung

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