Variant report

Variant	rs549915698
Chromosome Location	chr3:46789735-46789736
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:2)
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	chr3:46789735-46789785	HIPEpiC	eye:	n/a
2	chr3:46789735-46789785	Hepatocyte	liver:	n/a
3	chr3:46789735-46789785	NHBE	bronchial:	n/a
4	chr3:46789735-46789785	H1-hESC	embryonic stem cell:	embryo
5	chr3:46789735-46789785	HNPCEpiC	eye:	n/a
6	chr3:46789735-46789785	NH-A	brain:	n/a
7	chr3:46789735-46789785	A549	lung:	n/a
8	chr3:46789735-46789785	AG09319	gingival:	n/a
9	chr3:46789735-46789785	HRE	kidney:	n/a
10	chr3:46789735-46789785	SAEC	small airway:	n/a
11	chr3:46789735-46789785	MCF10A-Er-Src	breast:	n/a
12	chr3:46789735-46789785	GM19239	blood:	n/a
13	chr3:46789735-46789785	HCT-116	colon:	n/a
14	chr3:46789735-46789785	IMR90	lung:	fetal
15	chr3:46789735-46789785	ECC-1	luminal epithelium:	n/a
16	chr3:46789735-46789785	Caco-2	colon:	n/a
17	chr3:46789735-46789785	AoSMC	blood vessel:	n/a
18	chr3:46789735-46789785	ovcar-3	ovarian:	n/a
19	chr3:46789735-46789785	GM12892	blood:	n/a
20	chr3:46789735-46789785	HUVEC	blood vessel:	n/a
21	chr3:46789735-46789785	NB4	blood:	n/a
22	chr3:46789735-46789785	K562	blood:	n/a
23	chr3:46789735-46789785	HCPEpiC	choroid plexus:	n/a
24	chr3:46789735-46789785	AG10803	skin:	n/a
25	chr3:46789735-46789785	AG04449	skin:	fetal
26	chr3:46789735-46789785	Jurkat	blood:	n/a
27	chr3:46789735-46789785	HPAEpiC	pulmonary alveolar:	n/a
28	chr3:46789735-46789785	SKMC	muscle:	n/a
29	chr3:46789735-46789785	Hela-S3	cervix:	n/a
30	chr3:46789735-46789785	ProgFib	skin:	n/a
31	chr3:46789735-46789785	HAEpiC	amniotic membrane:	n/a
32	chr3:46789735-46789785	NHDF-neo	bronchial:	n/a
33	chr3:46789735-46789785	HCM	heart:	n/a
34	chr3:46789735-46789785	NT2-D1	testis:	n/a
35	chr3:46789735-46789785	RPTEC	kidney:	n/a
36	chr3:46789735-46789785	PrEC	prostate:	n/a
37	chr3:46789735-46789785	HMEC	breast:	n/a
38	chr3:46789735-46789785	HL-60	blood:	n/a
39	chr3:46789735-46789785	U87	brain:	n/a
40	chr3:46789735-46789785	AG09309	skin:	n/a
41	chr3:46789735-46789785	BE2_C	brain:	n/a
42	chr3:46789735-46789785	T-47D	breast:	n/a
43	chr3:46789735-46789785	BJ	skin:	n/a
44	chr3:46789735-46789785	MCF-7	breast:	n/a
45	chr3:46789735-46789785	HEK293	kidney:	embryo
46	chr3:46789735-46789785	SK-N-SH	brain:	n/a
47	chr3:46789735-46789785	CMK	blood:	n/a
48	chr3:46789735-46789785	GM12878	blood:	n/a
49	chr3:46789735-46789785	HepG2	liver:	n/a
50	chr3:46789735-46789785	GM06990	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46788120..46791042-chr3:46798895..46800766,2	K562	blood:
2	chr3:46787160..46789838-chr3:46792836..46795181,2	K562	blood:

No data

Variant related genes	Relation type
PRSS45	CpG island

Extended variants
information (count: 34 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv516623	chr3:46680063-46852679	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer 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	19 gene(s)	inside rSNPs	diseases
4	esv2757869	chr3:46680452-46972489	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv2759147	chr3:46680452-46972489	Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	esv1804680	chr3:46704348-46869911	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv536555	chr3:46706571-46817963	Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Enhancers Active TSS 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	17 gene(s)	inside rSNPs	diseases
8	nsv536556	chr3:46706571-46849443	Genic enhancers Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv536557	chr3:46706571-46853434	Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
11	nsv460525	chr3:46728659-46790397	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
12	nsv590179	chr3:46728659-46790397	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
13	nsv876745	chr3:46753976-46884552	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv915922	chr3:46768104-47009805	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	nsv869952	chr3:46768163-46854438	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1013195	chr3:46771434-46847604	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv1002013	chr3:46775383-46849577	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv998699	chr3:46775383-46859820	Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	esv33334	chr3:46777809-46791431	Bivalent Enhancer Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv3798	chr3:46778630-46865606	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv876746	chr3:46778988-46831775	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv999530	chr3:46780078-46847604	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv1009745	chr3:46780078-46849577	Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	nsv1002892	chr3:46783247-46846364	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	nsv1014183	chr3:46783247-46847604	Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
26	nsv1008803	chr3:46783247-46849167	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
27	nsv1005585	chr3:46783247-46849269	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
28	nsv1008289	chr3:46783247-46849577	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
29	nsv999980	chr3:46783247-46868816	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
30	nsv876747	chr3:46785355-46867685	Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
31	nsv1000066	chr3:46789175-46819731	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
32	nsv1014854	chr3:46789175-46849577	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
33	esv2760773	chr3:46789175-46873004	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
34	esv2763784	chr3:46789175-46880002	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46744000-46792200	Weak transcription	Right Atrium	heart
2	chr3:46769000-46792400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:46779400-46795400	Weak transcription	Spleen	Spleen
4	chr3:46779400-46799600	Weak transcription	Pancreas	Pancrea
5	chr3:46779800-46792800	Weak transcription	Thymus	Thymus
6	chr3:46785000-46789800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:46785200-46799800	Weak transcription	Fetal Intestine Small	intestine
8	chr3:46785600-46789800	Weak transcription	Placenta	Placenta
9	chr3:46785800-46795600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:46789200-46794200	Weak transcription	GM12878-XiMat	blood
11	chr3:46789600-46789800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr3:46789600-46790400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:46789600-46790400	Enhancers	Fetal Muscle Leg	muscle

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