Variant report

Variant	rs11946580
Chromosome Location	chr4:119274887-119274888
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr4:119272386-119275081	SK-N-SH	brain:	n/a	n/a
2	RAD21	chr4:119272568-119275066	SK-N-SH	brain:	n/a	chr4:119274077-119274091 chr4:119274304-119274318 chr4:119274306-119274320 chr4:119274064-119274074 chr4:119274302-119274314
3	CTCF	chr4:119272880-119274999	SK-N-SH	brain:	n/a	chr4:119274068-119274077 chr4:119274304-119274317 chr4:119274062-119274080 chr4:119274029-119274042 chr4:119273979-119273992 chr4:119274112-119274125
4	CTCF	chr4:119274820-119274970	GM12864	blood:	n/a	n/a
5	SMC3	chr4:119272645-119275055	SK-N-SH	brain:	n/a	chr4:119274418-119274428 chr4:119274064-119274078
6	CTCF	chr4:119274760-119274910	NHLF	lung:	n/a	n/a
7	CTCF	chr4:119274760-119274910	SAEC	small airway:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:119274837-119274887	HCPEpiC	choroid plexus:	n/a
2	chr4:119274837-119274887	HPAEpiC	pulmonary alveolar:	n/a
3	chr4:119274837-119274887	HEEpiC	esophagus:	n/a
4	chr4:119274837-119274887	HNPCEpiC	eye:	n/a
5	chr4:119274837-119274887	AG09319	gingival:	n/a
6	chr4:119274837-119274887	IMR90	lung:	fetal
7	chr4:119274837-119274887	GM12878	blood:	n/a
8	chr4:119274837-119274887	NHDF-neo	bronchial:	n/a
9	chr4:119274837-119274887	H1-hESC	embryonic stem cell:	embryo
10	chr4:119274837-119274887	Hepatocyte	liver:	n/a
11	chr4:119274837-119274887	HUVEC	blood vessel:	n/a
12	chr4:119274837-119274887	GM12891	blood:	n/a
13	chr4:119274837-119274887	GM06990	blood:	n/a
14	chr4:119274837-119274887	SK-N-SH	brain:	n/a
15	chr4:119274837-119274887	AG04449	skin:	fetal
16	chr4:119274837-119274887	AoSMC	blood vessel:	n/a
17	chr4:119274837-119274887	ProgFib	skin:	n/a
18	chr4:119274837-119274887	HMEC	breast:	n/a
19	chr4:119274837-119274887	CMK	blood:	n/a
20	chr4:119274837-119274887	HIPEpiC	eye:	n/a
21	chr4:119274837-119274887	NH-A	brain:	n/a
22	chr4:119274837-119274887	AG04450	lung:	fetal
23	chr4:119274837-119274887	SKMC	muscle:	n/a
24	chr4:119274837-119274887	T-47D	breast:	n/a
25	chr4:119274837-119274887	GM12892	blood:	n/a
26	chr4:119274837-119274887	ovcar-3	ovarian:	n/a
27	chr4:119274837-119274887	Hela-S3	cervix:	n/a
28	chr4:119274837-119274887	SAEC	small airway:	n/a
29	chr4:119274837-119274887	HCT-116	colon:	n/a
30	chr4:119274837-119274887	HAEpiC	amniotic membrane:	n/a
31	chr4:119274837-119274887	BE2_C	brain:	n/a
32	chr4:119274837-119274887	AG09309	skin:	n/a
33	chr4:119274837-119274887	BJ	skin:	n/a
34	chr4:119274837-119274887	HCM	heart:	n/a
35	chr4:119274837-119274887	AG10803	skin:	n/a
36	chr4:119274837-119274887	GM19239	blood:	n/a
37	chr4:119274837-119274887	NT2-D1	testis:	n/a
38	chr4:119274837-119274887	K562	blood:	n/a
39	chr4:119274837-119274887	U87	brain:	n/a
40	chr4:119274837-119274887	MCF-7	breast:	n/a
41	chr4:119274837-119274887	Caco-2	colon:	n/a
42	chr4:119274837-119274887	HRPEpiC	eye:	n/a
43	chr4:119274837-119274887	PANC-1	pancreas:	n/a
44	chr4:119274837-119274887	A549	lung:	n/a
45	chr4:119274837-119274887	HepG2	liver:	n/a
46	chr4:119274837-119274887	PFSK-1	brain:	n/a
47	chr4:119274837-119274887	HCF	heart:	n/a
48	chr4:119274837-119274887	NB4	blood:	n/a
49	chr4:119274837-119274887	RPTEC	kidney:	n/a
50	chr4:119274837-119274887	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119198677..119205956-chr4:119272273..119279963,18	MCF-7	breast:
2	chr4:119199692..119204423-chr4:119272219..119275323,9	MCF-7	breast:

No data

Variant related genes	Relation type
PRSS12	TF binding region
PRSS12	CpG island
ENSG00000269893	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11929737	1.00[AMR][1000 genomes]
rs11929897	1.00[AMR][1000 genomes]
rs11933005	1.00[AMR][1000 genomes]
rs11933355	1.00[AMR][1000 genomes]
rs11935046	1.00[AMR][1000 genomes]
rs11940720	1.00[AMR][1000 genomes]
rs11942152	1.00[AMR][1000 genomes]
rs11943179	1.00[AMR][1000 genomes]
rs17049757	1.00[AMR][1000 genomes]
rs1913579	1.00[AMR][1000 genomes]
rs34131974	1.00[AMR][1000 genomes]
rs4001513	1.00[AMR][1000 genomes]
rs57651227	1.00[AMR][1000 genomes]
rs60300552	1.00[AMR][1000 genomes]
rs7670243	1.00[AMR][1000 genomes]
rs9685569	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats 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	39 gene(s)	inside rSNPs	diseases
2	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv482277	chr4:119261543-119408886	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv461631	chr4:119261939-119308603	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv595331	chr4:119261939-119308603	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3440556	chr4:119272654-119275202	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119271600-119275000	Active TSS	NHLF	lung
2	chr4:119272800-119275000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr4:119273000-119275000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr4:119273600-119275000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:119274000-119275000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr4:119274200-119275000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:119274200-119275000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
8	chr4:119274200-119275000	Bivalent Enhancer	Placenta	Placenta
9	chr4:119274200-119275200	Bivalent Enhancer	Fetal Thymus	thymus
10	chr4:119274200-119276200	Enhancers	Fetal Brain Male	brain
11	chr4:119274400-119275000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
12	chr4:119274400-119275000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
13	chr4:119274400-119275000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:119274400-119275000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:119274400-119275000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr4:119274400-119275000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
17	chr4:119274400-119275000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
18	chr4:119274400-119275000	Bivalent Enhancer	Left Ventricle	heart
19	chr4:119274400-119275000	Enhancers	Lung	lung
20	chr4:119274400-119275000	Flanking Active TSS	NHEK	skin
21	chr4:119274600-119275000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr4:119274600-119275000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:119274600-119275000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
24	chr4:119274600-119275000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
25	chr4:119274600-119275000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:119274600-119275000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
27	chr4:119274600-119275000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:119274600-119275000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:119274600-119275000	Bivalent Enhancer	Brain Angular Gyrus	brain
30	chr4:119274600-119275000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr4:119274600-119275000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
32	chr4:119274600-119275000	Enhancers	Right Ventricle	heart
33	chr4:119274600-119275000	Bivalent Enhancer	Small Intestine	intestine
34	chr4:119274600-119275000	Bivalent Enhancer	Stomach Mucosa	stomach
35	chr4:119274600-119275000	Bivalent Enhancer	HepG2	liver
36	chr4:119274600-119275000	Bivalent Enhancer	HUVEC	blood vessel
37	chr4:119274600-119275000	Flanking Active TSS	NHDF-Ad	bronchial
38	chr4:119274600-119275000	Flanking Active TSS	Osteobl	bone
39	chr4:119274600-119275200	Bivalent Enhancer	Primary B cells from cord blood	blood
40	chr4:119274600-119275200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
41	chr4:119274600-119275200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
42	chr4:119274800-119275000	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr4:119274800-119275000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:119274800-119275000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:119274800-119275000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr4:119274800-119275000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:119274800-119275000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:119274800-119275000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr4:119274800-119275000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
50	chr4:119274800-119275000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood

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