Variant report

Variant	rs28690798
Chromosome Location	chr7:100663239-100663240
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100663239-100663289	HNPCEpiC	eye:	n/a
2	chr7:100663239-100663289	HCF	heart:	n/a
3	chr7:100663239-100663289	NH-A	brain:	n/a
4	chr7:100663239-100663289	HRCEpiC	kidney:	n/a
5	chr7:100663239-100663289	SAEC	small airway:	n/a
6	chr7:100663239-100663289	HEEpiC	esophagus:	n/a
7	chr7:100663239-100663289	K562	blood:	n/a
8	chr7:100663239-100663289	Caco-2	colon:	n/a
9	chr7:100663239-100663289	Jurkat	blood:	n/a
10	chr7:100663239-100663289	GM12892	blood:	n/a
11	chr7:100663239-100663289	AG04450	lung:	fetal
12	chr7:100663239-100663289	ovcar-3	ovarian:	n/a
13	chr7:100663239-100663289	GM19239	blood:	n/a
14	chr7:100663239-100663289	SK-N-MC	brain:	n/a
15	chr7:100663239-100663289	Hepatocyte	liver:	n/a
16	chr7:100663239-100663289	HAEpiC	amniotic membrane:	n/a
17	chr7:100663239-100663289	HepG2	liver:	n/a
18	chr7:100663239-100663289	AG04449	skin:	fetal
19	chr7:100663239-100663289	SK-N-SH_RA	brain:	n/a
20	chr7:100663239-100663289	NB4	blood:	n/a
21	chr7:100663239-100663289	HIPEpiC	eye:	n/a
22	chr7:100663239-100663289	MCF-7	breast:	n/a
23	chr7:100663239-100663289	ProgFib	skin:	n/a
24	chr7:100663239-100663289	AG09309	skin:	n/a
25	chr7:100663239-100663289	ECC-1	luminal epithelium:	n/a
26	chr7:100663239-100663289	HPAEpiC	pulmonary alveolar:	n/a
27	chr7:100663239-100663289	HL-60	blood:	n/a
28	chr7:100663239-100663289	LNCaP	prostate:	n/a
29	chr7:100663239-100663289	GM12891	blood:	n/a
30	chr7:100663239-100663289	BE2_C	brain:	n/a
31	chr7:100663239-100663289	IMR90	lung:	fetal
32	chr7:100663239-100663289	HRPEpiC	eye:	n/a
33	chr7:100663239-100663289	HCPEpiC	choroid plexus:	n/a
34	chr7:100663239-100663289	PrEC	prostate:	n/a
35	chr7:100663239-100663289	PFSK-1	brain:	n/a
36	chr7:100663239-100663289	AG10803	skin:	n/a
37	chr7:100663239-100663289	HEK293	kidney:	embryo
38	chr7:100663239-100663289	NHDF-neo	bronchial:	n/a
39	chr7:100663239-100663289	NHBE	bronchial:	n/a
40	chr7:100663239-100663289	AoSMC	blood vessel:	n/a
41	chr7:100663239-100663289	U87	brain:	n/a
42	chr7:100663239-100663289	MCF10A-Er-Src	breast:	n/a
43	chr7:100663239-100663289	HUVEC	blood vessel:	n/a
44	chr7:100663239-100663289	SKMC	muscle:	n/a
45	chr7:100663239-100663289	PANC-1	pancreas:	n/a
46	chr7:100663239-100663289	AG09319	gingival:	n/a
47	chr7:100663239-100663289	HRE	kidney:	n/a
48	chr7:100663239-100663289	HCT-116	colon:	n/a
49	chr7:100663239-100663289	Hela-S3	cervix:	n/a
50	chr7:100663239-100663289	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100661599..100663275-chr7:100811718..100814144,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227053	CpG island
MUC17	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10254720	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv1826021	chr7:100525848-100749246	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1846644	chr7:100525848-100749246	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1822460	chr7:100606044-100749246	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv427796	chr7:100606044-100749246	Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv428181	chr7:100606044-100749246	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv831074	chr7:100606051-100745532	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	esv1836983	chr7:100630638-100669857	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
13	esv1849981	chr7:100633668-100686761	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv1828583	chr7:100652181-100676353	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv1823966	chr7:100652181-100693849	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100661000-100664600	Weak transcription	Spleen	Spleen
2	chr7:100661000-100676800	Weak transcription	Right Atrium	heart
3	chr7:100661000-100684200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:100661600-100663600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:100661800-100663800	Enhancers	Stomach Mucosa	stomach
6	chr7:100662000-100663800	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr7:100662400-100664000	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:100662600-100665200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:100662800-100663400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:100663000-100663800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr7:100663200-100663400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:100663200-100663400	Flanking Active TSS	Fetal Intestine Small	intestine
13	chr7:100663200-100663400	Bivalent Enhancer	Placenta	Placenta
14	chr7:100663200-100663600	Flanking Active TSS	Fetal Intestine Large	intestine
15	chr7:100663200-100665000	Active TSS	Duodenum Mucosa	Duodenum

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