Variant report

Variant	rs8047593
Chromosome Location	chr16:70563181-70563182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr16:70562887-70563688	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr16:70563104-70563824	SK-N-SH	brain:	n/a	chr16:70563309-70563317
3	MXI1	chr16:70562996-70563818	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr16:70563019-70563777	A549	lung:	n/a	chr16:70563309-70563317
5	GATA3	chr16:70563081-70563624	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr16:70562917-70563271	PFSK-1	brain:	n/a	n/a
7	BRCA1	chr16:70563027-70563541	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr16:70563040-70563190	GM12871	blood:	n/a	n/a
9	POLR2A	chr16:70562806-70563224	MCF-7	breast:	n/a	n/a
10	CTCF	chr16:70563060-70563210	AoAF	blood vessel:	n/a	n/a
11	RAD21	chr16:70562892-70563758	SK-N-SH	brain:	n/a	n/a
12	FOSL2	chr16:70563142-70563613	A549	lung:	n/a	n/a
13	POLR2A	chr16:70563065-70563195	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr16:70562719-70563224	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70544700..70547086-chr16:70561359..70563295,2	MCF-7	breast:
2	chr16:70320190..70323478-chr16:70561149..70564718,3	K562	blood:
3	chr16:70562984..70563958-chr16:70687542..70688242,3	MCF-7	breast:
4	chr16:70560516..70563489-chr16:70597585..70599581,2	MCF-7	breast:
5	chr16:70559458..70561590-chr16:70562032..70564631,5	K562	blood:
6	chr16:70562753..70563960-chr16:70687318..70688116,3	MCF-7	breast:
7	chr16:70379157..70381349-chr16:70561785..70563465,2	MCF-7	breast:

No data

Variant related genes	Relation type
SNORD111B	TF binding region
ENSG00000157368	Chromatin interaction
ENSG00000168872	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000261777	Chromatin interaction
ENSG00000090861	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13331220	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334577	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs13339216	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13339561	1.00[AMR][1000 genomes]
rs13339593	1.00[AMR][1000 genomes]
rs13339643	1.00[AMR][1000 genomes]
rs16970226	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970240	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970243	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970253	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970259	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970260	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17878662	1.00[AMR][1000 genomes]
rs17879275	1.00[AMR][1000 genomes]
rs17881316	1.00[AMR][1000 genomes]
rs17885165	1.00[AMR][1000 genomes]
rs17886111	1.00[AMR][1000 genomes]
rs28419202	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28438025	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28475204	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28619389	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28777081	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55667445	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55885171	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55926204	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs56189591	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57451547	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58142695	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58144908	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58885322	1.00[EUR][1000 genomes]
rs59158714	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59460917	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60757048	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61641432	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61692284	1.00[EUR][1000 genomes]
rs6499318	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7184876	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7185011	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7185462	1.00[EUR][1000 genomes]
rs7186436	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7188297	1.00[AMR][1000 genomes]
rs7188474	1.00[AMR][1000 genomes]
rs7188808	1.00[AMR][1000 genomes]
rs7191191	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7193228	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7196773	1.00[AMR][1000 genomes]
rs7199312	1.00[AMR][1000 genomes]
rs7200586	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7200978	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73573163	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73573175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73578815	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578819	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8049929	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8050767	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8050782	1.00[EUR][1000 genomes]
rs8051473	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051618	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8057327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8057732	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8058754	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8059200	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8061243	1.00[AMR][1000 genomes]
rs8061431	1.00[AMR][1000 genomes]
rs8062414	1.00[AMR][1000 genomes]
rs8062794	1.00[AMR][1000 genomes]
rs9302615	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9921410	1.00[AMR][1000 genomes]
rs9926355	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9926435	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928617	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9928808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9929182	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9929354	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9929882	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9932065	1.00[AMR][1000 genomes]
rs9932939	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9933022	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9936085	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9937769	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9939252	0.88[AFR][1000 genomes]
rs9940353	0.91[AFR][1000 genomes];1.00[AMR][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	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	chr16:70558800-70565200	Weak transcription	Aorta	Aorta
2	chr16:70559400-70564200	Weak transcription	Esophagus	oesophagus
3	chr16:70559400-70564200	Weak transcription	Right Ventricle	heart
4	chr16:70559400-70564600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:70559400-70606200	Strong transcription	Fetal Stomach	stomach
6	chr16:70559600-70563200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr16:70559600-70563800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr16:70559600-70564200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr16:70559600-70564600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr16:70559600-70571400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr16:70559800-70564200	Genic enhancers	Primary T cells fromperipheralblood	blood
12	chr16:70560200-70563600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
13	chr16:70560400-70563200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:70560400-70563200	Genic enhancers	Primary T cells from cord blood	blood
15	chr16:70560400-70564000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr16:70560400-70564600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr16:70560400-70565200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:70560400-70605200	Strong transcription	Fetal Muscle Trunk	muscle
19	chr16:70560400-70605600	Strong transcription	Placenta	Placenta
20	chr16:70560400-70607800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr16:70560600-70568800	Strong transcription	Brain Substantia Nigra	brain
22	chr16:70560600-70598800	Strong transcription	Stomach Smooth Muscle	stomach
23	chr16:70560600-70609600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:70560800-70608800	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr16:70561000-70563200	Strong transcription	Primary hematopoietic stem cells	blood
26	chr16:70561000-70563200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr16:70561000-70563600	Genic enhancers	HepG2	liver
28	chr16:70561000-70564400	Weak transcription	Small Intestine	intestine
29	chr16:70561000-70569400	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr16:70561000-70569600	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr16:70561000-70605200	Strong transcription	Fetal Muscle Leg	muscle
32	chr16:70561000-70608800	Strong transcription	Fetal Thymus	thymus
33	chr16:70561000-70609000	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr16:70561000-70609400	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr16:70561000-70610000	Strong transcription	Thymus	Thymus
36	chr16:70561200-70568000	Strong transcription	Fetal Kidney	kidney
37	chr16:70561200-70587200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
38	chr16:70561200-70602000	Strong transcription	Fetal Intestine Large	intestine
39	chr16:70561200-70609400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr16:70561200-70609600	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr16:70561400-70563200	Strong transcription	Brain Germinal Matrix	brain
42	chr16:70561400-70574800	Strong transcription	Fetal Intestine Small	intestine
43	chr16:70561400-70587200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr16:70561400-70605200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr16:70561400-70607600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr16:70561400-70609000	Strong transcription	Primary B cells from cord blood	blood
47	chr16:70561400-70610000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr16:70561600-70563400	Genic enhancers	Muscle Satellite Cultured Cells	--
49	chr16:70561600-70563400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr16:70561600-70564200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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