Variant report

Variant	rs11863471
Chromosome Location	chr16:70520520-70520521
allele	A/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	POLR2A	chr16:70520267-70522850	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:70510922..70516361-chr16:70517334..70521909,5	K562	blood:
2	chr16:70520287..70522895-chr16:70527029..70528591,2	K562	blood:
3	chr16:70518786..70520618-chr16:70554933..70557035,2	K562	blood:

Variant related genes	Relation type
COG4	TF binding region
ENSG00000157353	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11862417	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11863539	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11864207	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16970184	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs17879135	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs17882471	0.89[AMR][1000 genomes]
rs17882726	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs17883115	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs17883780	0.90[AMR][1000 genomes]
rs17884097	0.89[AMR][1000 genomes]
rs17884146	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs17885314	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs17885948	0.89[AMR][1000 genomes]
rs57384881	0.89[AMR][1000 genomes]
rs60237114	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60345847	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60470914	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7196785	0.89[AMR][1000 genomes]
rs7199145	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7199719	0.89[AMR][1000 genomes]
rs74026073	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026077	0.89[AMR][1000 genomes]
rs74026078	0.89[AMR][1000 genomes]
rs8055338	0.94[AFR][1000 genomes];1.00[AMR][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	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
2	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr16:70489400-70556400	Weak transcription	Stomach Mucosa	stomach
2	chr16:70501200-70535800	Strong transcription	Fetal Intestine Small	intestine
3	chr16:70501400-70535200	Strong transcription	Fetal Intestine Large	intestine
4	chr16:70501400-70536400	Strong transcription	Fetal Stomach	stomach
5	chr16:70503800-70522200	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:70504200-70524800	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr16:70504200-70532000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr16:70504400-70535200	Strong transcription	Liver	Liver
9	chr16:70506200-70524000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr16:70506400-70535200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr16:70506600-70522800	Weak transcription	Fetal Brain Male	brain
12	chr16:70506600-70535400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr16:70511000-70527400	Weak transcription	Psoas Muscle	Psoas
14	chr16:70511400-70526200	Strong transcription	Thymus	Thymus
15	chr16:70511600-70524200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr16:70511800-70524800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:70511800-70535600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr16:70512000-70524600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:70512000-70535400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr16:70512200-70520600	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr16:70512200-70521200	Strong transcription	Fetal Thymus	thymus
22	chr16:70512800-70524200	Strong transcription	Fetal Muscle Leg	muscle
23	chr16:70512800-70533600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:70512800-70556400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr16:70513000-70528000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr16:70513000-70528600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr16:70513200-70522000	Strong transcription	Stomach Smooth Muscle	stomach
28	chr16:70513600-70522600	Strong transcription	Adipose Nuclei	Adipose
29	chr16:70513600-70527600	Weak transcription	Right Atrium	heart
30	chr16:70513800-70520800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr16:70513800-70532200	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr16:70514000-70520600	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr16:70514000-70523400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr16:70514000-70524400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr16:70514400-70524800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr16:70514400-70527800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr16:70514600-70523400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr16:70514800-70524200	Weak transcription	Fetal Heart	heart
39	chr16:70515800-70524000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr16:70516000-70530200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr16:70516200-70527200	Weak transcription	Small Intestine	intestine
42	chr16:70516800-70521800	Strong transcription	Placenta	Placenta
43	chr16:70516800-70522200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr16:70516800-70522200	Weak transcription	Hela-S3	cervix
45	chr16:70516800-70523600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr16:70516800-70527000	Weak transcription	A549	lung
47	chr16:70516800-70527400	Weak transcription	HMEC	breast
48	chr16:70516800-70529400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr16:70516800-70529400	Weak transcription	HUVEC	blood vessel
50	chr16:70517400-70522800	Weak transcription	NHDF-Ad	bronchial

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