Variant report

Variant	rs181511949
Chromosome Location	chr7:16921738-16921739
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr7:16921401-16921797	T-47D	breast:	n/a	n/a
2	ZNF217	chr7:16921504-16921837	MCF-7	breast:	n/a	n/a
3	ESR1	chr7:16921436-16921876	T-47D	breast:	n/a	n/a
4	NR2F2	chr7:16921432-16921955	MCF-7	breast:	n/a	n/a
5	ESR1	chr7:16921460-16921759	T-47D	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:16921699-16921749	SK-N-SH	brain:	n/a
2	chr7:16921699-16921749	K562	blood:	n/a
3	chr7:16921699-16921749	CMK	blood:	n/a
4	chr7:16921699-16921749	HEEpiC	esophagus:	n/a
5	chr7:16921699-16921749	NH-A	brain:	n/a
6	chr7:16921699-16921749	U87	brain:	n/a
7	chr7:16921699-16921749	NB4	blood:	n/a
8	chr7:16921699-16921749	AG09319	gingival:	n/a
9	chr7:16921699-16921749	AG09309	skin:	n/a
10	chr7:16921699-16921749	Hepatocyte	liver:	n/a
11	chr7:16921699-16921749	IMR90	lung:	fetal
12	chr7:16921699-16921749	HepG2	liver:	n/a
13	chr7:16921699-16921749	MCF-7	breast:	n/a
14	chr7:16921699-16921749	Caco-2	colon:	n/a
15	chr7:16921699-16921749	SK-N-MC	brain:	n/a
16	chr7:16921699-16921749	A549	lung:	n/a
17	chr7:16921699-16921749	GM12892	blood:	n/a
18	chr7:16921699-16921749	HRE	kidney:	n/a
19	chr7:16921699-16921749	HNPCEpiC	eye:	n/a
20	chr7:16921699-16921749	HEK293	kidney:	embryo
21	chr7:16921699-16921749	NT2-D1	testis:	n/a
22	chr7:16921699-16921749	ProgFib	skin:	n/a
23	chr7:16921699-16921749	SK-N-SH_RA	brain:	n/a
24	chr7:16921699-16921749	HUVEC	blood vessel:	n/a
25	chr7:16921699-16921749	RPTEC	kidney:	n/a
26	chr7:16921699-16921749	GM06990	blood:	n/a
27	chr7:16921699-16921749	MCF10A-Er-Src	breast:	n/a
28	chr7:16921699-16921749	HL-60	blood:	n/a
29	chr7:16921699-16921749	PFSK-1	brain:	n/a
30	chr7:16921699-16921749	ECC-1	luminal epithelium:	n/a
31	chr7:16921699-16921749	LNCaP	prostate:	n/a
32	chr7:16921699-16921749	GM12891	blood:	n/a
33	chr7:16921699-16921749	Hela-S3	cervix:	n/a
34	chr7:16921699-16921749	AG04449	skin:	fetal
35	chr7:16921699-16921749	BJ	skin:	n/a
36	chr7:16921699-16921749	PrEC	prostate:	n/a
37	chr7:16921699-16921749	Jurkat	blood:	n/a
38	chr7:16921699-16921749	PANC-1	pancreas:	n/a
39	chr7:16921699-16921749	AoSMC	blood vessel:	n/a
40	chr7:16921699-16921749	HRPEpiC	eye:	n/a
41	chr7:16921699-16921749	BE2_C	brain:	n/a
42	chr7:16921699-16921749	HIPEpiC	eye:	n/a
43	chr7:16921699-16921749	HCF	heart:	n/a
44	chr7:16921699-16921749	HCM	heart:	n/a
45	chr7:16921699-16921749	ovcar-3	ovarian:	n/a
46	chr7:16921699-16921749	HCT-116	colon:	n/a
47	chr7:16921699-16921749	GM12878	blood:	n/a
48	chr7:16921699-16921749	AG10803	skin:	n/a
49	chr7:16921699-16921749	SAEC	small airway:	n/a
50	chr7:16921699-16921749	AG04450	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16842935..16845400-chr7:16919121..16922153,4	MCF-7	breast:
2	chr7:16840761..16845436-chr7:16917964..16923686,10	MCF-7	breast:

No data

Variant related genes	Relation type
AGR3	TF binding region
AGR3	CpG island
ENSG00000106541	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887761	chr7:16834361-17732490	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv887762	chr7:16834361-17746628	Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv887763	chr7:16834361-17750811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	34 gene(s)	inside rSNPs	diseases
4	nsv887764	chr7:16839835-17218800	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv887765	chr7:16839835-17750811	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1027284	chr7:16849986-17008167	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv606339	chr7:16852808-17004301	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1016695	chr7:16854300-16991627	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1017413	chr7:16854300-17125005	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv538749	chr7:16854300-17125005	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv1015831	chr7:16854300-17732227	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv538750	chr7:16854300-17732227	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	esv2752152	chr7:16863727-16946225	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv870171	chr7:16872876-17188633	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv529874	chr7:16877677-17703617	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
16	nsv532093	chr7:16877677-17712291	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
17	nsv887766	chr7:16883936-16991565	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv1034503	chr7:16900137-17033354	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv1024829	chr7:16900137-17645026	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
20	nsv522109	chr7:16908545-16946486	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv887767	chr7:16908545-16963803	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv606340	chr7:16908545-17334899	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
23	nsv887768	chr7:16910963-16946486	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
24	nsv887769	chr7:16910963-16959685	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	nsv887770	chr7:16910963-16963773	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
26	nsv887771	chr7:16910963-16966355	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
27	nsv1023794	chr7:16913789-17416093	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
28	nsv606341	chr7:16915528-17405718	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
29	nsv464398	chr7:16915528-17414784	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
30	nsv606342	chr7:16915528-17414784	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
31	nsv1028248	chr7:16918221-17409752	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
32	nsv522500	chr7:16921334-16922249	Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16918200-16922000	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr7:16918400-16922000	Active TSS	Fetal Intestine Large	intestine
3	chr7:16918600-16922000	Active TSS	Fetal Intestine Small	intestine
4	chr7:16919000-16922000	Active TSS	Rectal Mucosa Donor 31	rectum
5	chr7:16920000-16921800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:16920600-16923000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:16920800-16921800	Weak transcription	Stomach Mucosa	stomach
8	chr7:16921000-16922200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:16921400-16922600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:16921600-16922200	Weak transcription	Duodenum Mucosa	Duodenum

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