Variant report

Variant	rs9934872
Chromosome Location	chr16:81232484-81232485
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:147)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:147 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:81232377-81232552	GM12892	blood:	n/a	n/a
2	ZNF143	chr16:81232425-81232601	K562	blood:	n/a	n/a
3	CTCF	chr16:81232400-81232550	NB4	blood:	n/a	n/a
4	RAD21	chr16:81232207-81232627	A549	lung:	n/a	n/a
5	RAD21	chr16:81232246-81232559	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr16:81232346-81232494	K562	blood:	n/a	n/a
7	CTCF	chr16:81232192-81232655	K562	blood:	n/a	n/a
8	RAD21	chr16:81232188-81232687	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr16:81232400-81232550	WERI-Rb-1	eye:	n/a	n/a
10	CTCF	chr16:81232460-81232610	BJ	skin:	n/a	n/a
11	RAD21	chr16:81232306-81232595	IMR90	lung:	n/a	n/a
12	CTCF	chr16:81232340-81232490	SAEC	small airway:	n/a	n/a
13	CTCF	chr16:81232358-81232591	MCF-7	breast:	n/a	n/a
14	CTCF	chr16:81232198-81232788	HCT-116	colon:	n/a	n/a
15	CTCF	chr16:81232338-81232598	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr16:81232208-81232698	ECC-1	luminal epithelium:	n/a	n/a
17	GATA3	chr16:81232185-81232637	T-47D	breast:	n/a	n/a
18	CTCF	chr16:81232380-81232530	HMF	breast:	n/a	n/a
19	CTCF	chr16:81232134-81232816	A549	lung:	n/a	n/a
20	CTCF	chr16:81232345-81232596	K562	blood:	n/a	n/a
21	CUX1	chr16:81232258-81232612	K562	blood:	n/a	n/a
22	CTCF	chr16:81232244-81232676	A549	lung:	n/a	n/a
23	RAD21	chr16:81232279-81232582	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr16:81232400-81232550	NHEK	skin:	n/a	n/a
25	RAD21	chr16:81232151-81232796	HCT-116	colon:	n/a	n/a
26	CTCF	chr16:81232380-81232530	MCF-7	breast:	n/a	n/a
27	CTCF	chr16:81232343-81232605	MCF-7	breast:	n/a	n/a
28	CTCF	chr16:81232340-81232490	HAc	cerebellar:	n/a	n/a
29	CTCF	chr16:81232384-81232544	GM19238	blood:	n/a	n/a
30	CTCF	chr16:81232420-81232570	HepG2	liver:	n/a	n/a
31	CTCF	chr16:81232360-81232510	HFF	foreskin:	n/a	n/a
32	CTCF	chr16:81232389-81232551	GM12891	blood:	n/a	n/a
33	RAD21	chr16:81232353-81232591	K562	blood:	n/a	n/a
34	CTCF	chr16:81232420-81232570	HVMF	connective:	n/a	n/a
35	CTCF	chr16:81232274-81232663	K562	blood:	n/a	n/a
36	CTCF	chr16:81232380-81232530	HCFaa	heart:	n/a	n/a
37	CTCF	chr16:81232420-81232570	Caco-2	colon:	n/a	n/a
38	CTCF	chr16:81232420-81232570	NHDF-neo	bronchial:	n/a	n/a
39	CTCF	chr16:81232380-81232530	AG09319	gingival:	n/a	n/a
40	RAD21	chr16:81232105-81232670	HepG2	liver:	n/a	n/a
41	CTCF	chr16:81232202-81232744	MCF-7	breast:	n/a	n/a
42	CTCF	chr16:81232450-81232512	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr16:81232400-81232550	NHLF	lung:	n/a	n/a
44	ARID3A	chr16:81232328-81232582	HepG2	liver:	n/a	n/a
45	SMC3	chr16:81232331-81232566	K562	blood:	n/a	n/a
46	CTCF	chr16:81232308-81232616	IMR90	lung:	n/a	n/a
47	SMC3	chr16:81232235-81232624	HepG2	liver:	n/a	n/a
48	CTCF	chr16:81232360-81232510	K562	blood:	n/a	n/a
49	CTCF	chr16:81232360-81232510	HPAF	blood vessel:	n/a	n/a
50	RAD21	chr16:81232242-81232653	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:81174893..81175517-chr16:81231737..81232731,3	MCF-7	breast:
2	chr16:81110779..81112641-chr16:81230562..81234042,3	MCF-7	breast:
3	chr16:81068894..81069816-chr16:81231960..81232923,14	MCF-7	breast:
4	chr16:81068964..81069731-chr16:81231614..81232947,4	MCF-7	breast:
5	chr16:81069108..81070906-chr16:81231938..81234335,3	MCF-7	breast:

No data

Variant related genes	Relation type
PKD1L2	TF binding region
ENSG00000166473	Chromatin interaction
ENSG00000245059	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000166455	Chromatin interaction
ENSG00000166454	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10438611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28647954	0.81[AFR][1000 genomes]
rs28705777	0.81[AFR][1000 genomes]
rs59080695	0.83[AFR][1000 genomes]
rs9319564	1.00[EUR][1000 genomes]
rs9926791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9937071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9937169	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	esv2751615	chr16:81093099-81307599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv530715	chr16:81117168-81252875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1064742	chr16:81172662-81266841	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	nsv431520	chr16:81172699-81258899	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv457570	chr16:81173030-81264597	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	nsv573348	chr16:81173030-81264597	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	nsv1056584	chr16:81177693-81266841	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
12	nsv1059877	chr16:81178596-81266841	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
13	nsv1064021	chr16:81181006-81266841	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	nsv521055	chr16:81181423-81264597	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
15	nsv916050	chr16:81187125-81262282	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
16	nsv457571	chr16:81189510-81233614	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	nsv573352	chr16:81189510-81233614	Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
18	nsv907009	chr16:81190790-81262516	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
19	nsv1064222	chr16:81198147-81258896	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
20	nsv457572	chr16:81198147-81258896	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
21	nsv573353	chr16:81198147-81258896	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
22	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
23	nsv457573	chr16:81204081-81294893	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
24	nsv573354	chr16:81204081-81294893	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
25	nsv527288	chr16:81204188-81310947	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
26	nsv1057230	chr16:81204423-81299509	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
27	nsv1067235	chr16:81204423-81303759	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
28	nsv1063012	chr16:81207377-81239056	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
29	nsv1063482	chr16:81207377-81303759	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
30	nsv1066535	chr16:81208822-81238322	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
31	esv2761923	chr16:81210797-81233547	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
32	nsv1064984	chr16:81210797-81252715	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
33	nsv1066901	chr16:81217482-81238443	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
34	nsv1064529	chr16:81223243-81303759	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
35	nsv573355	chr16:81230341-81238993	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
36	nsv573356	chr16:81230341-81240644	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
37	nsv457575	chr16:81230341-81244502	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
38	nsv573357	chr16:81230341-81244502	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
39	nsv573358	chr16:81232426-81240697	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81215000-81254600	Weak transcription	Right Atrium	heart
2	chr16:81229800-81238600	Weak transcription	Adipose Nuclei	Adipose
3	chr16:81230600-81238400	Weak transcription	Brain Anterior Caudate	brain
4	chr16:81232000-81232800	Enhancers	Brain Hippocampus Middle	brain
5	chr16:81232200-81232600	Active TSS	Brain Substantia Nigra	brain
6	chr16:81232400-81232600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:81232400-81232600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr16:81232400-81232800	Enhancers	Liver	Liver
9	chr16:81232400-81232800	Bivalent Enhancer	HepG2	liver
10	chr16:81232400-81234800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr16:81232400-81238600	Weak transcription	Brain Angular Gyrus	brain

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