Variant report

Variant	rs72801308
Chromosome Location	chr16:69603735-69603736
allele	A/G
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	CUX1	chr16:69603180-69603843	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69601806..69604778-chr16:69741998..69744768,2	K562	blood:
2	chr16:69598845..69601528-chr16:69603220..69607437,4	MCF-7	breast:

Variant related genes	Relation type
MIR1538	TF binding region
ENSG00000238683	Chromatin interaction
ENSG00000223109	Chromatin interaction
ENSG00000261602	Chromatin interaction
ENSG00000102908	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs11863900	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11864904	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1437137	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16958951	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16958953	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17230557	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17230612	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17231138	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17231474	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17297088	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17297207	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17298718	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45564335	1.00[ASN][1000 genomes]
rs55844704	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56000913	1.00[ASN][1000 genomes]
rs56043436	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56073658	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56105992	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56127339	1.00[ASN][1000 genomes]
rs56170853	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56171157	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56221028	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62057900	1.00[ASN][1000 genomes]
rs6499230	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499238	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689453	1.00[ASN][1000 genomes]
rs689454	1.00[ASN][1000 genomes]
rs689461	1.00[ASN][1000 genomes]
rs7190756	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7193205	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72783105	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783116	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783117	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783118	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783119	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783121	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783128	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783158	1.00[ASN][1000 genomes]
rs72783160	1.00[ASN][1000 genomes]
rs72783163	1.00[ASN][1000 genomes]
rs72783165	1.00[ASN][1000 genomes]
rs72783174	1.00[ASN][1000 genomes]
rs72783183	1.00[ASN][1000 genomes]
rs72783184	1.00[ASN][1000 genomes]
rs72783188	1.00[ASN][1000 genomes]
rs72799373	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799378	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799379	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799381	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799385	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799386	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799387	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799393	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799394	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799398	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799400	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799402	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801305	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801312	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801314	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801315	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801317	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801318	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801319	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801320	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801321	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801322	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801323	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801325	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801326	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801328	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801330	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801332	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801333	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801337	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801338	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801339	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801344	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801347	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801350	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801352	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801354	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8049366	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8055148	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1852	chr16:69566121-69610962	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69598000-69604600	Active TSS	GM12878-XiMat	blood
2	chr16:69601400-69603800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr16:69601400-69613000	Weak transcription	Small Intestine	intestine
4	chr16:69601600-69605200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr16:69601600-69610600	Weak transcription	Ovary	ovary
6	chr16:69601800-69604000	Enhancers	Primary T cells from cord blood	blood
7	chr16:69601800-69604000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr16:69601800-69604600	Enhancers	Colon Smooth Muscle	Colon
9	chr16:69601800-69605400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr16:69601800-69610600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr16:69602000-69603800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr16:69602000-69604200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr16:69602000-69604800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr16:69602000-69606000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr16:69602000-69610600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr16:69602000-69633000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr16:69602200-69604400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr16:69602200-69604600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr16:69602200-69604600	Weak transcription	Left Ventricle	heart
20	chr16:69602200-69605200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr16:69602200-69605400	Enhancers	Rectal Smooth Muscle	rectum
22	chr16:69602200-69605600	Weak transcription	Colonic Mucosa	Colon
23	chr16:69602200-69609200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:69602200-69610400	Weak transcription	Placenta	Placenta
25	chr16:69602200-69610400	Weak transcription	Lung	lung
26	chr16:69602200-69619400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr16:69602200-69622000	Weak transcription	Gastric	stomach
28	chr16:69602200-69627000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr16:69602200-69628600	Weak transcription	Right Atrium	heart
30	chr16:69602200-69631600	Weak transcription	Pancreas	Pancrea
31	chr16:69602200-69643200	Weak transcription	Fetal Muscle Leg	muscle
32	chr16:69602200-69646600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr16:69602200-69653600	Weak transcription	Fetal Thymus	thymus
34	chr16:69602400-69604800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr16:69602400-69605600	Strong transcription	HSMM	muscle
36	chr16:69602400-69610400	Weak transcription	Psoas Muscle	Psoas
37	chr16:69602600-69603800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr16:69602600-69604000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr16:69602600-69604000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr16:69602600-69607600	Weak transcription	Fetal Intestine Small	intestine
41	chr16:69602600-69609000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:69602600-69610600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr16:69602600-69614200	Weak transcription	Fetal Stomach	stomach
44	chr16:69602600-69628600	Weak transcription	Thymus	Thymus
45	chr16:69602600-69628800	Weak transcription	Right Ventricle	heart
46	chr16:69602600-69629600	Weak transcription	HSMMtube	muscle
47	chr16:69602600-69630200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr16:69602600-69630800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr16:69602800-69604000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:69602800-69604000	Enhancers	Brain Anterior Caudate	brain

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