Variant report

Variant	rs56324414
Chromosome Location	chr4:119274655-119274656
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	CTCF	chr4:119274540-119274690	HRPEpiC	eye:	n/a	n/a
3	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
4	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
5	CTCF	chr4:119274580-119274730	HFF	foreskin:	n/a	n/a
6	SMC3	chr4:119272645-119275055	SK-N-SH	brain:	n/a	chr4:119274418-119274428 chr4:119274064-119274078
7	CTCF	chr4:119274620-119274770	GM12873	blood:	n/a	n/a
8	CTCF	chr4:119274620-119274770	HRE	kidney:	n/a	n/a
9	SIN3A	chr4:119272978-119274710	H1-hESC	embryonic stem cell:	n/a	chr4:119274375-119274384
10	MAZ	chr4:119272864-119274658	IMR90	lung:	n/a	chr4:119273936-119273946 chr4:119273939-119273949
11	MAX	chr4:119273304-119274714	ECC-1	luminal epithelium:	n/a	chr4:119273936-119273946 chr4:119273939-119273949
12	RAD21	chr4:119274589-119274849	SK-N-SH_RA	brain:	n/a	n/a

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:

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

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10016452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13101451	0.82[EUR][1000 genomes]
rs13132957	0.82[EUR][1000 genomes]
rs13144171	0.82[EUR][1000 genomes]
rs17516512	0.84[EUR][1000 genomes]
rs17516526	0.84[EUR][1000 genomes]
rs17516540	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17516582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17594782	0.82[EUR][1000 genomes]
rs17594978	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1913576	0.87[AMR][1000 genomes]
rs28552458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28784075	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55699931	0.82[EUR][1000 genomes]
rs55949457	0.82[EUR][1000 genomes]
rs56217716	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56410164	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58467651	0.82[EUR][1000 genomes]
rs66615663	0.83[EUR][1000 genomes]
rs67686161	0.83[EUR][1000 genomes]
rs67928655	0.83[EUR][1000 genomes]
rs72670213	0.87[AMR][1000 genomes]
rs72670230	0.87[AMR][1000 genomes]
rs72670231	0.87[AMR][1000 genomes]
rs72670233	0.87[AMR][1000 genomes]
rs72670237	0.87[AMR][1000 genomes]
rs72670238	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72670246	0.87[AMR][1000 genomes]
rs72670248	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72670249	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72670250	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72677057	0.84[EUR][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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119271600-119275000	Active TSS	NHLF	lung
2	chr4:119272800-119274800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:119272800-119275000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr4:119273000-119274800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr4:119273000-119274800	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr4:119273000-119274800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
7	chr4:119273000-119275000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr4:119273200-119274800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:119273200-119274800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:119273200-119274800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
11	chr4:119273200-119274800	Enhancers	Spleen	Spleen
12	chr4:119273200-119274800	Active TSS	Hela-S3	cervix
13	chr4:119273400-119274800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr4:119273400-119274800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:119273400-119274800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:119273400-119274800	Bivalent/Poised TSS	A549	lung
17	chr4:119273600-119274800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:119273600-119274800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
19	chr4:119273600-119275000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:119273800-119274800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
21	chr4:119273800-119274800	Active TSS	Ovary	ovary
22	chr4:119274000-119274800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:119274000-119274800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr4:119274000-119274800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
25	chr4:119274000-119275000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr4:119274200-119274800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
27	chr4:119274200-119274800	Flanking Active TSS	HMEC	breast
28	chr4:119274200-119275000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:119274200-119275000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
30	chr4:119274200-119275000	Bivalent Enhancer	Placenta	Placenta
31	chr4:119274200-119275200	Bivalent Enhancer	Fetal Thymus	thymus
32	chr4:119274200-119276200	Enhancers	Fetal Brain Male	brain
33	chr4:119274400-119274800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
34	chr4:119274400-119274800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:119274400-119274800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
36	chr4:119274400-119274800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
37	chr4:119274400-119274800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:119274400-119274800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:119274400-119274800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:119274400-119274800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
41	chr4:119274400-119274800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
42	chr4:119274400-119274800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
43	chr4:119274400-119274800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
44	chr4:119274400-119274800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
45	chr4:119274400-119274800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
46	chr4:119274400-119274800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr4:119274400-119274800	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
48	chr4:119274400-119274800	Active TSS	Right Atrium	heart
49	chr4:119274400-119274800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
50	chr4:119274400-119274800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach

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