Variant report

Variant	rs16832206
Chromosome Location	chr1:160520375-160520376
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	YY1	chr1:160520264-160520720	GM12891	blood:	n/a	n/a
2	CTCF	chr1:160520340-160520490	GM12875	blood:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
3	CTCF	chr1:160520360-160520510	GM12865	blood:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
4	CTCF	chr1:160520340-160520511	GM10248	blood:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
5	CTCF	chr1:160520299-160520592	K562	blood:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
6	CTCF	chr1:160520334-160520528	MCF-7	breast:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
7	CTCF	chr1:160520300-160520450	HRE	kidney:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
8	RAD21	chr1:160520336-160520484	K562	blood:	n/a	chr1:160520430-160520449
9	CTCF	chr1:160520360-160520510	GM12864	blood:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
10	YY1	chr1:160520287-160520778	GM12892	blood:	n/a	n/a
11	CTCF	chr1:160520340-160520490	GM12865	blood:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
12	CTCF	chr1:160520320-160520470	GM12878	blood:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
13	CTCF	chr1:160520360-160520510	HCT-116	colon:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
14	YY1	chr1:160520346-160520556	K562	blood:	n/a	n/a
15	CTCF	chr1:160520266-160520592	GM19238	blood:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
16	CTCF	chr1:160520341-160520532	Spleen_OC	spleen:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
17	CTCF	chr1:160520280-160520430	GM12872	blood:	n/a	n/a
18	RAD21	chr1:160520266-160520623	H1-hESC	embryonic stem cell:	n/a	chr1:160520520-160520533 chr1:160520430-160520449
19	CTCF	chr1:160520369-160520463	A549	lung:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
20	CTCF	chr1:160520280-160520430	GM12870	blood:	n/a	n/a
21	CTCF	chr1:160520360-160520510	SAEC	small airway:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
22	CTCF	chr1:160520192-160520585	GM12891	blood:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
23	CTCF	chr1:160520340-160520490	GM12873	blood:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
24	ZNF143	chr1:160520310-160520493	K562	blood:	n/a	n/a
25	ZNF143	chr1:160520273-160520557	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr1:160520320-160520470	BE2_C	brain:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
27	MTA3	chr1:160517014-160521352	GM12878	blood:	n/a	n/a
28	CTCF	chr1:160520373-160520473	HepG2	liver:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
29	USF2	chr1:160520347-160520380	H1-hESC	embryonic stem cell:	n/a	n/a
30	RAD21	chr1:160520311-160520534	K562	blood:	n/a	chr1:160520520-160520533 chr1:160520430-160520449
31	CTCF	chr1:160520320-160520470	HCT-116	colon:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
32	CTCF	chr1:160520300-160520450	HL-60	blood:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
33	CTCF	chr1:160520293-160520573	GM19240	blood:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
34	CTCF	chr1:160520315-160520547	K562	blood:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
35	RAD21	chr1:160520281-160520588	GM12878	blood:	n/a	chr1:160520520-160520533 chr1:160520430-160520449
36	SMC3	chr1:160520271-160520628	GM12878	blood:	n/a	chr1:160520300-160520308 chr1:160520301-160520311 chr1:160520431-160520445
37	CTCF	chr1:160520360-160520510	A549	lung:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
38	CTCF	chr1:160520280-160520430	GM12871	blood:	n/a	n/a
39	RCOR1	chr1:160520281-160520612	K562	blood:	n/a	n/a
40	CTCF	chr1:160520300-160520450	GM12868	blood:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
41	CTCF	chr1:160520320-160520470	NB4	blood:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
42	CTCF	chr1:160520300-160520450	GM12872	blood:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
43	CTCF	chr1:160520323-160520542	GM13977	blood:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
44	CTCF	chr1:160520320-160520470	GM06990	blood:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
45	CTCF	chr1:160520320-160520470	GM12868	blood:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
46	CTCF	chr1:160520320-160520470	HEK293	kidney:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
47	YY1	chr1:160520286-160520816	GM12878	blood:	n/a	n/a
48	CTCF	chr1:160520300-160520450	GM12866	blood:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
49	CTCF	chr1:160520360-160520510	GM12866	blood:	n/a	chr1:160520432-160520445 chr1:160520430-160520446
50	CTCF	chr1:160520311-160520518	GM10266	blood:	n/a	chr1:160520432-160520445 chr1:160520430-160520446

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:160520374-160520424	Jurkat	blood:	n/a
2	chr1:160520374-160520424	GM12878	blood:	n/a
3	chr1:160520374-160520424	NT2-D1	testis:	n/a
4	chr1:160520346-160520396	Hepatocyte	liver:	n/a
5	chr1:160520374-160520424	SK-N-MC	brain:	n/a
6	chr1:160520346-160520396	AG10803	skin:	n/a
7	chr1:160520374-160520424	Hepatocyte	liver:	n/a
8	chr1:160520374-160520424	NHBE	bronchial:	n/a
9	chr1:160520374-160520424	HepG2	liver:	n/a
10	chr1:160520374-160520424	BJ	skin:	n/a
11	chr1:160520374-160520424	IMR90	lung:	fetal
12	chr1:160520346-160520396	H1-hESC	embryonic stem cell:	embryo
13	chr1:160520374-160520424	HPAEpiC	pulmonary alveolar:	n/a
14	chr1:160520374-160520424	AG09319	gingival:	n/a
15	chr1:160520346-160520396	MCF10A-Er-Src	breast:	n/a
16	chr1:160520374-160520424	SKMC	muscle:	n/a
17	chr1:160520346-160520396	U87	brain:	n/a
18	chr1:160520346-160520396	HEEpiC	esophagus:	n/a
19	chr1:160520374-160520424	HNPCEpiC	eye:	n/a
20	chr1:160520374-160520424	GM06990	blood:	n/a
21	chr1:160520374-160520424	HCT-116	colon:	n/a
22	chr1:160520346-160520396	NH-A	brain:	n/a
23	chr1:160520374-160520424	K562	blood:	n/a
24	chr1:160520374-160520424	HUVEC	blood vessel:	n/a
25	chr1:160520374-160520424	AoSMC	blood vessel:	n/a
26	chr1:160520346-160520396	ovcar-3	ovarian:	n/a
27	chr1:160520374-160520424	GM12891	blood:	n/a
28	chr1:160520346-160520396	HPAEpiC	pulmonary alveolar:	n/a
29	chr1:160520374-160520424	HEEpiC	esophagus:	n/a
30	chr1:160520346-160520396	GM12891	blood:	n/a
31	chr1:160520346-160520396	PANC-1	pancreas:	n/a
32	chr1:160520346-160520396	HAEpiC	amniotic membrane:	n/a
33	chr1:160520374-160520424	GM19239	blood:	n/a
34	chr1:160520374-160520424	PrEC	prostate:	n/a
35	chr1:160520346-160520396	HCM	heart:	n/a
36	chr1:160520346-160520396	ECC-1	luminal epithelium:	n/a
37	chr1:160520374-160520424	PANC-1	pancreas:	n/a
38	chr1:160520346-160520396	HCF	heart:	n/a
39	chr1:160520374-160520424	NHDF-neo	bronchial:	n/a
40	chr1:160520374-160520424	NH-A	brain:	n/a
41	chr1:160520346-160520396	A549	lung:	n/a
42	chr1:160520346-160520396	HMEC	breast:	n/a
43	chr1:160520346-160520396	HUVEC	blood vessel:	n/a
44	chr1:160520346-160520396	AG04449	skin:	fetal
45	chr1:160520346-160520396	AG09309	skin:	n/a
46	chr1:160520346-160520396	T-47D	breast:	n/a
47	chr1:160520374-160520424	SAEC	small airway:	n/a
48	chr1:160520346-160520396	HCT-116	colon:	n/a
49	chr1:160520346-160520396	HNPCEpiC	eye:	n/a
50	chr1:160520346-160520396	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:160515112..160518077-chr1:160519420..160523438,5	K562	blood:
2	chr1:160509002..160516145-chr1:160518936..160522666,8	K562	blood:

Variant related genes	Relation type
ENSG00000264286	TF binding region
ENSG00000264286	CpG island
ENSG00000264286	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12046037	0.87[YRI][hapmap]
rs14413	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16832097	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs16832213	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832268	1.00[AMR][1000 genomes]
rs57815015	1.00[AMR][1000 genomes]
rs60822342	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6671061	1.00[AMR][1000 genomes]
rs6693001	1.00[AMR][1000 genomes]
rs73014367	1.00[AMR][1000 genomes]
rs73016368	0.83[AFR][1000 genomes]
rs73016369	1.00[AMR][1000 genomes]
rs73016373	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73018380	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73018394	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829614	chr1:160465291-160595000	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv872491	chr1:160470258-160580549	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv831703	chr1:160496124-160643024	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160510200-160520400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:160511800-160522400	Weak transcription	Gastric	stomach
3	chr1:160511800-160527800	Weak transcription	Colonic Mucosa	Colon
4	chr1:160512200-160524600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:160515200-160520600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:160515200-160521800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:160516000-160520600	Genic enhancers	Fetal Thymus	thymus
8	chr1:160516000-160526200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:160516200-160523800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:160516600-160520400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:160516600-160523800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:160516800-160520600	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:160517000-160520600	Enhancers	Spleen	Spleen
14	chr1:160517400-160523800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:160517400-160524000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:160517400-160528000	Weak transcription	Placenta	Placenta
17	chr1:160517600-160523800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:160517600-160528400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:160517800-160524000	Weak transcription	Adipose Nuclei	Adipose
20	chr1:160518000-160520400	Enhancers	Primary B cells from cord blood	blood
21	chr1:160518000-160520400	Enhancers	Primary B cells from peripheral blood	blood
22	chr1:160518000-160520800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:160519200-160521200	Enhancers	Pancreas	Pancrea
24	chr1:160519200-160521400	Enhancers	K562	blood
25	chr1:160519200-160521600	Genic enhancers	Primary T cells fromperipheralblood	blood
26	chr1:160519200-160522200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:160519200-160524000	Strong transcription	Primary hematopoietic stem cells	blood
28	chr1:160519400-160520400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:160519400-160521200	Genic enhancers	Thymus	Thymus
30	chr1:160519400-160521800	Weak transcription	Stomach Mucosa	stomach
31	chr1:160519400-160524200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:160519600-160520800	Weak transcription	Primary T cells from cord blood	blood
33	chr1:160519600-160526000	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr1:160519800-160520400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr1:160519800-160523800	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:160519800-160531000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:160520000-160520600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:160520000-160523800	Genic enhancers	GM12878-XiMat	blood
39	chr1:160520000-160524000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:160520200-160523600	Strong transcription	Dnd41	blood

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