Variant report

Variant	rs56348821
Chromosome Location	chr16:70453326-70453327
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70411659..70418028-chr16:70451032..70456707,7	MCF-7	breast:
2	chr16:70441229..70447070-chr16:70453059..70456907,6	K562	blood:

Variant related genes	Relation type
ENSG00000260111	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs11859870	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11861097	1.00[EUR][1000 genomes]
rs11861486	0.92[AMR][1000 genomes]
rs11863943	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11864179	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11864326	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11865484	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11865564	0.91[AMR][1000 genomes]
rs16970121	0.92[AMR][1000 genomes]
rs16970133	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970141	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16970149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970151	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970159	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970169	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16970331	1.00[EUR][1000 genomes]
rs16970335	1.00[EUR][1000 genomes]
rs17878609	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17879665	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17880268	0.91[AMR][1000 genomes]
rs17881219	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35904382	0.92[AMR][1000 genomes]
rs4999488	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs55769835	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55775924	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55916527	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55963712	1.00[EUR][1000 genomes]
rs56050266	0.92[AMR][1000 genomes]
rs56082018	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56096542	1.00[EUR][1000 genomes]
rs56836664	0.92[AMR][1000 genomes]
rs57150196	1.00[EUR][1000 genomes]
rs57492770	1.00[EUR][1000 genomes]
rs58047061	0.92[AMR][1000 genomes]
rs58434182	1.00[EUR][1000 genomes]
rs59260159	1.00[EUR][1000 genomes]
rs59552467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59928915	0.83[AMR][1000 genomes]
rs60011151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60045805	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs60387488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60646112	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61266247	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61284127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61319691	0.91[AMR][1000 genomes]
rs61369696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61391917	1.00[EUR][1000 genomes]
rs6499306	1.00[EUR][1000 genomes]
rs6499307	1.00[EUR][1000 genomes]
rs6499312	0.92[AMR][1000 genomes]
rs6499314	0.91[AMR][1000 genomes]
rs7184248	1.00[EUR][1000 genomes]
rs7188864	0.92[AMR][1000 genomes]
rs7189535	1.00[EUR][1000 genomes]
rs7190536	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7195086	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7195104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199043	1.00[EUR][1000 genomes]
rs7199346	0.91[AMR][1000 genomes]
rs7199655	0.92[AMR][1000 genomes]
rs7203548	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203761	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7205871	1.00[EUR][1000 genomes]
rs7206347	0.91[AMR][1000 genomes]
rs74024196	1.00[EUR][1000 genomes]
rs74026026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74026033	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs74026049	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8044699	1.00[EUR][1000 genomes]
rs8045769	1.00[EUR][1000 genomes]
rs8049361	1.00[EUR][1000 genomes]
rs8050252	1.00[EUR][1000 genomes]
rs8053657	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8053883	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8054203	0.92[AMR][1000 genomes]
rs8058032	1.00[EUR][1000 genomes]
rs8058735	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8062602	0.91[AMR][1000 genomes]
rs9673623	1.00[EUR][1000 genomes]

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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70432800-70454800	Weak transcription	Pancreas	Pancrea
2	chr16:70432800-70457000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr16:70433200-70461600	Weak transcription	Aorta	Aorta
4	chr16:70433400-70461600	Weak transcription	Brain Substantia Nigra	brain
5	chr16:70433600-70461600	Weak transcription	Colon Smooth Muscle	Colon
6	chr16:70438400-70461600	Weak transcription	HSMM	muscle
7	chr16:70438600-70461600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr16:70438600-70461600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr16:70439000-70453400	Weak transcription	A549	lung
10	chr16:70439200-70454800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:70439200-70458600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr16:70441800-70461600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr16:70442200-70458600	Weak transcription	NH-A	brain
14	chr16:70442400-70454200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr16:70442600-70454200	Weak transcription	Ovary	ovary
16	chr16:70445000-70461800	Weak transcription	Brain Germinal Matrix	brain
17	chr16:70445200-70461600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr16:70445400-70453400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr16:70446200-70456800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:70446200-70457400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr16:70446400-70461600	Weak transcription	HSMMtube	muscle
22	chr16:70446600-70458600	Weak transcription	Osteobl	bone
23	chr16:70446800-70458600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr16:70448000-70456800	Enhancers	Fetal Heart	heart
25	chr16:70448000-70458000	Enhancers	Placenta	Placenta
26	chr16:70448000-70464200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr16:70448200-70456200	Enhancers	Psoas Muscle	Psoas
28	chr16:70448400-70453400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:70448400-70460800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr16:70448400-70461800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr16:70448600-70453400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr16:70449200-70454200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr16:70449400-70453800	Enhancers	Primary B cells from peripheral blood	blood
34	chr16:70449600-70457400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr16:70450000-70457200	Enhancers	Right Ventricle	heart
36	chr16:70450600-70453600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr16:70450600-70453800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
38	chr16:70450600-70454200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr16:70450600-70454400	Enhancers	Fetal Thymus	thymus
40	chr16:70450600-70454600	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr16:70450600-70455600	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr16:70450600-70455800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr16:70450600-70456000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr16:70450600-70456400	Genic enhancers	Fetal Muscle Leg	muscle
45	chr16:70450600-70457200	Genic enhancers	Fetal Muscle Trunk	muscle
46	chr16:70450600-70457200	Enhancers	Left Ventricle	heart
47	chr16:70450600-70457400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr16:70451000-70454200	Enhancers	Primary hematopoietic stem cells	blood
49	chr16:70451000-70454200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr16:70451000-70457000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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