Variant report

Variant	rs9925510
Chromosome Location	chr16:70507842-70507843
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:85)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:85 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:70507740-70507890	HBMEC	blood vessel:	n/a	n/a
2	CTCF	chr16:70507654-70507987	GM12878	blood:	n/a	n/a
3	RAD21	chr16:70507673-70508013	MCF-7	breast:	n/a	n/a
4	CTCF	chr16:70507769-70507920	GM12891	blood:	n/a	n/a
5	CTCF	chr16:70507731-70507927	GM19240	blood:	n/a	n/a
6	CTCF	chr16:70507720-70507870	HepG2	liver:	n/a	n/a
7	CTCF	chr16:70507740-70507890	NHEK	skin:	n/a	n/a
8	CTCF	chr16:70507760-70507910	WERI-Rb-1	eye:	n/a	n/a
9	CTCF	chr16:70507700-70507850	HepG2	liver:	n/a	n/a
10	CTCF	chr16:70507768-70507913	MCF-7	breast:	n/a	n/a
11	CTCF	chr16:70507740-70507890	GM12868	blood:	n/a	n/a
12	RAD21	chr16:70507661-70507874	GM12878	blood:	n/a	n/a
13	CTCF	chr16:70507720-70507870	Caco-2	colon:	n/a	n/a
14	CTCF	chr16:70507720-70507870	GM12865	blood:	n/a	n/a
15	RAD21	chr16:70507663-70507976	GM12878	blood:	n/a	n/a
16	RAD21	chr16:70507651-70507932	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr16:70507740-70507970	RPTEC	kidney:	n/a	n/a
18	CTCF	chr16:70507740-70507890	MCF-7	breast:	n/a	n/a
19	CTCF	chr16:70507840-70507990	BE2_C	brain:	n/a	n/a
20	CTCF	chr16:70507785-70507874	GM10266	blood:	n/a	n/a
21	CTCF	chr16:70507734-70507951	GM19238	blood:	n/a	n/a
22	CTCF	chr16:70507780-70507930	GM12878	blood:	n/a	n/a
23	CTCF	chr16:70507757-70507926	MCF-7	breast:	n/a	n/a
24	CTCF	chr16:70507720-70507870	GM12872	blood:	n/a	n/a
25	CTCF	chr16:70507764-70507885	HepG2	liver:	n/a	n/a
26	RAD21	chr16:70507748-70507970	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr16:70507713-70507933	HepG2	liver:	n/a	n/a
28	CTCF	chr16:70507780-70507930	GM12866	blood:	n/a	n/a
29	CTCF	chr16:70507780-70507930	GM12871	blood:	n/a	n/a
30	CTCF	chr16:70507760-70507910	GM12864	blood:	n/a	n/a
31	CTCF	chr16:70507780-70507930	AoAF	blood vessel:	n/a	n/a
32	CTCF	chr16:70507700-70507850	RPTEC	kidney:	n/a	n/a
33	CTCF	chr16:70507780-70507930	GM12864	blood:	n/a	n/a
34	CTCF	chr16:70507793-70507855	Spleen_OC	spleen:	n/a	n/a
35	CTCF	chr16:70507768-70507898	Hela-S3	cervix:	n/a	n/a
36	RAD21	chr16:70507482-70508124	SK-N-SH	brain:	n/a	n/a
37	RAD21	chr16:70507644-70508116	A549	lung:	n/a	n/a
38	RAD21	chr16:70507637-70507944	HepG2	liver:	n/a	n/a
39	CTCF	chr16:70507740-70507890	GM12874	blood:	n/a	n/a
40	RAD21	chr16:70507687-70507995	MCF-7	breast:	n/a	n/a
41	CTCF	chr16:70507754-70507926	GM19239	blood:	n/a	n/a
42	CTCF	chr16:70507792-70507906	LNCaP	prostate:	n/a	n/a
43	CTCF	chr16:70507700-70507850	A549	lung:	n/a	n/a
44	CTCF	chr16:70507740-70507890	GM12873	blood:	n/a	n/a
45	CTCF	chr16:70507720-70507870	GM12875	blood:	n/a	n/a
46	RAD21	chr16:70507598-70508051	A549	lung:	n/a	n/a
47	CTCF	chr16:70507830-70507876	K562	blood:	n/a	n/a
48	CTCF	chr16:70507765-70507901	MCF-7	breast:	n/a	n/a
49	CTCF	chr16:70507706-70507935	A549	lung:	n/a	n/a
50	CTCF	chr16:70507740-70507890	AG04449	skin:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70487960..70489638-chr16:70506359..70508682,2	MCF-7	breast:
2	chr16:70507044..70509667-chr16:70557071..70558921,2	MCF-7	breast:
3	chr16:70413020..70418181-chr16:70497448..70510572,26	MCF-7	breast:
4	chr16:70411449..70413987-chr16:70507586..70509151,2	MCF-7	breast:
5	chr16:70505499..70507933-chr16:70517566..70519175,2	MCF-7	breast:

No data

Variant related genes	Relation type
FUK	TF binding region
ENSG00000103051	Chromatin interaction
ENSG00000260111	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000157353	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11643373	1.00[YRI][hapmap]
rs11648402	0.90[LWK][hapmap];1.00[YRI][hapmap]
rs11863394	1.00[EUR][1000 genomes]
rs12102388	1.00[AMR][1000 genomes]
rs12325225	0.87[AMR][1000 genomes]
rs13330945	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13332431	1.00[TSI][hapmap]
rs13334712	0.87[AMR][1000 genomes]
rs13337689	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13338441	1.00[EUR][1000 genomes]
rs13339561	1.00[EUR][1000 genomes]
rs13339593	1.00[EUR][1000 genomes]
rs13339643	1.00[EUR][1000 genomes]
rs16970240	0.90[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap]
rs16970253	0.90[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap]
rs16970260	0.90[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap]
rs17878662	1.00[EUR][1000 genomes]
rs17879275	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17881316	0.90[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17886111	1.00[EUR][1000 genomes]
rs1979594	0.87[AMR][1000 genomes]
rs2168606	0.90[LWK][hapmap];0.96[YRI][hapmap]
rs2303793	0.96[YRI][hapmap]
rs28613466	1.00[AMR][1000 genomes]
rs3852695	1.00[YRI][hapmap]
rs57301833	0.87[AMR][1000 genomes]
rs60575688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6499320	0.96[YRI][hapmap]
rs6499327	0.89[YRI][hapmap]
rs7188297	1.00[EUR][1000 genomes]
rs7188474	1.00[EUR][1000 genomes]
rs7188808	1.00[EUR][1000 genomes]
rs7192936	1.00[EUR][1000 genomes]
rs7193228	0.90[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap]
rs7196773	1.00[EUR][1000 genomes]
rs7199312	1.00[EUR][1000 genomes]
rs7200034	0.93[ASW][hapmap];1.00[MEX][hapmap]
rs7200891	0.87[AMR][1000 genomes]
rs7201750	0.85[LWK][hapmap];0.96[YRI][hapmap]
rs7202133	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs744672	0.81[AFR][1000 genomes]
rs7919	0.88[LWK][hapmap];0.86[YRI][hapmap]
rs8045340	0.87[AMR][1000 genomes]
rs8047189	1.00[EUR][1000 genomes]
rs8057327	0.90[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap]
rs8057732	0.90[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap]
rs8057766	0.93[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes]
rs8058754	0.90[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap]
rs8059200	1.00[EUR][1000 genomes]
rs8061243	1.00[EUR][1000 genomes]
rs8061431	1.00[EUR][1000 genomes]
rs8062178	0.96[YRI][hapmap]
rs8062414	1.00[EUR][1000 genomes]
rs8062794	1.00[EUR][1000 genomes]
rs8063990	1.00[YRI][hapmap]
rs891138	0.85[YRI][hapmap];0.87[AMR][1000 genomes]
rs9921696	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9922969	1.00[EUR][1000 genomes]
rs9924352	0.93[ASW][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes]
rs9926435	1.00[EUR][1000 genomes]
rs9928617	0.90[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap]
rs9929182	1.00[EUR][1000 genomes]
rs9929354	0.90[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap]
rs9933510	1.00[EUR][1000 genomes]
rs9934707	0.81[YRI][hapmap]
rs9940353	0.90[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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
3	esv1815154	chr16:70467819-70515355	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	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
5	nsv906873	chr16:70495911-70509838	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1828600	chr16:70500809-70515355	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv1812578	chr16:70504305-70515355	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70489200-70508800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:70489400-70508800	Weak transcription	HMEC	breast
3	chr16:70489400-70509000	Weak transcription	NHEK	skin
4	chr16:70489400-70509400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr16:70489400-70510600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr16:70489400-70511800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:70489400-70512000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:70489400-70513000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr16:70489400-70513400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr16:70489400-70513800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:70489400-70513800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr16:70489400-70514200	Weak transcription	Small Intestine	intestine
13	chr16:70489400-70556400	Weak transcription	Stomach Mucosa	stomach
14	chr16:70490200-70514400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr16:70495000-70519000	Strong transcription	Primary T cells from cord blood	blood
16	chr16:70495200-70510200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr16:70495200-70510200	Weak transcription	Osteobl	bone
18	chr16:70495400-70508800	Weak transcription	GM12878-XiMat	blood
19	chr16:70495400-70510200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:70495400-70510200	Weak transcription	HSMM	muscle
21	chr16:70495400-70510400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:70495800-70512800	Weak transcription	Right Atrium	heart
23	chr16:70497000-70510200	Strong transcription	Duodenum Mucosa	Duodenum
24	chr16:70497200-70510600	Strong transcription	Lung	lung
25	chr16:70498000-70510200	Weak transcription	HSMMtube	muscle
26	chr16:70498000-70510400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr16:70498200-70508200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr16:70498200-70509200	Weak transcription	NHLF	lung
29	chr16:70498200-70510200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr16:70498200-70511600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr16:70498200-70513600	Weak transcription	Fetal Kidney	kidney
32	chr16:70499200-70510800	Weak transcription	Primary B cells from cord blood	blood
33	chr16:70499400-70510600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr16:70501000-70510400	Weak transcription	Fetal Lung	lung
35	chr16:70501200-70535800	Strong transcription	Fetal Intestine Small	intestine
36	chr16:70501400-70535200	Strong transcription	Fetal Intestine Large	intestine
37	chr16:70501400-70536400	Strong transcription	Fetal Stomach	stomach
38	chr16:70501800-70510200	Weak transcription	Psoas Muscle	Psoas
39	chr16:70502400-70509800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr16:70502800-70510800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr16:70503000-70509400	Strong transcription	Fetal Muscle Leg	muscle
42	chr16:70503000-70512400	Strong transcription	Brain Hippocampus Middle	brain
43	chr16:70503400-70513000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr16:70503800-70509200	Strong transcription	Esophagus	oesophagus
45	chr16:70503800-70522200	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr16:70504000-70509600	Strong transcription	Thymus	Thymus
47	chr16:70504200-70509000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr16:70504200-70510400	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr16:70504200-70524800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr16:70504200-70532000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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