Variant report

Variant	rs57312551
Chromosome Location	chr4:122686283-122686284
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:122686220-122686370	NHEK	skin:	n/a	n/a
2	E2F6	chr4:122685711-122686923	H1-hESC	embryonic stem cell:	n/a	chr4:122686322-122686331
3	CTCF	chr4:122686260-122686410	SAEC	small airway:	n/a	n/a
4	RAD21	chr4:122686148-122686515	IMR90	lung:	n/a	chr4:122686304-122686318 chr4:122686303-122686317
5	POLR2A	chr4:122685924-122686442	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr4:122686125-122686371	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3A	chr4:122685740-122686844	H1-hESC	embryonic stem cell:	n/a	chr4:122685832-122685841
8	MXI1	chr4:122686041-122686358	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZNF143	chr4:122686038-122686358	H1-hESC	embryonic stem cell:	n/a	n/a
10	KAP1	chr4:122686079-122686631	HEK293	kidney:	n/a	n/a
11	POLR2A	chr4:122685812-122686744	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZNF263	chr4:122685939-122686666	HEK293-T-REx	kidney:	n/a	n/a
13	TAF1	chr4:122685751-122686410	H1-hESC	embryonic stem cell:	n/a	n/a
14	HMGN3	chr4:122685966-122686315	K562	blood:	n/a	n/a
15	E2F6	chr4:122685792-122686682	H1-hESC	embryonic stem cell:	n/a	chr4:122686322-122686331
16	POLR2A	chr4:122686044-122686960	H1-neurons	neurons:	n/a	n/a
17	MAX	chr4:122685768-122686637	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTBP2	chr4:122685787-122686680	H1-hESC	embryonic stem cell:	n/a	n/a
19	MYC	chr4:122686067-122686335	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr4:122685783-122686600	H1-hESC	embryonic stem cell:	n/a	n/a
21	TBP	chr4:122685699-122686660	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr4:122686180-122686330	WERI-Rb-1	eye:	n/a	n/a
23	CHD2	chr4:122685945-122686743	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:122686269-122686319	A549	lung:	n/a
2	chr4:122686269-122686319	AG09309	skin:	n/a
3	chr4:122686269-122686319	BJ	skin:	n/a
4	chr4:122686269-122686319	NB4	blood:	n/a
5	chr4:122686269-122686319	HIPEpiC	eye:	n/a
6	chr4:122686269-122686319	Caco-2	colon:	n/a
7	chr4:122686269-122686319	AG04449	skin:	fetal
8	chr4:122686269-122686319	AG10803	skin:	n/a
9	chr4:122686269-122686319	CMK	blood:	n/a
10	chr4:122686269-122686319	HRE	kidney:	n/a
11	chr4:122686269-122686319	Hela-S3	cervix:	n/a
12	chr4:122686269-122686319	HMEC	breast:	n/a
13	chr4:122686269-122686319	HRCEpiC	kidney:	n/a
14	chr4:122686269-122686319	HEEpiC	esophagus:	n/a
15	chr4:122686269-122686319	AoSMC	blood vessel:	n/a
16	chr4:122686269-122686319	HAEpiC	amniotic membrane:	n/a
17	chr4:122686269-122686319	AG04450	lung:	fetal
18	chr4:122686269-122686319	HCF	heart:	n/a
19	chr4:122686269-122686319	NH-A	brain:	n/a
20	chr4:122686269-122686319	RPTEC	kidney:	n/a
21	chr4:122686269-122686319	SK-N-SH	brain:	n/a
22	chr4:122686269-122686319	NHDF-neo	bronchial:	n/a
23	chr4:122686269-122686319	PrEC	prostate:	n/a
24	chr4:122686269-122686319	ovcar-3	ovarian:	n/a
25	chr4:122686269-122686319	Jurkat	blood:	n/a
26	chr4:122686269-122686319	GM12891	blood:	n/a
27	chr4:122686269-122686319	BE2_C	brain:	n/a
28	chr4:122686269-122686319	HCM	heart:	n/a
29	chr4:122686269-122686319	Hepatocyte	liver:	n/a
30	chr4:122686269-122686319	U87	brain:	n/a
31	chr4:122686269-122686319	GM12892	blood:	n/a
32	chr4:122686269-122686319	HEK293	kidney:	embryo
33	chr4:122686269-122686319	HNPCEpiC	eye:	n/a
34	chr4:122686269-122686319	T-47D	breast:	n/a
35	chr4:122686269-122686319	H1-hESC	embryonic stem cell:	embryo
36	chr4:122686269-122686319	HCPEpiC	choroid plexus:	n/a
37	chr4:122686269-122686319	MCF-7	breast:	n/a
38	chr4:122686269-122686319	NT2-D1	testis:	n/a
39	chr4:122686269-122686319	GM12878	blood:	n/a
40	chr4:122686269-122686319	ProgFib	skin:	n/a
41	chr4:122686269-122686319	HRPEpiC	eye:	n/a
42	chr4:122686269-122686319	LNCaP	prostate:	n/a
43	chr4:122686269-122686319	SK-N-SH_RA	brain:	n/a
44	chr4:122686269-122686319	K562	blood:	n/a
45	chr4:122686269-122686319	SK-N-MC	brain:	n/a
46	chr4:122686269-122686319	SAEC	small airway:	n/a
47	chr4:122686269-122686319	NHBE	bronchial:	n/a
48	chr4:122686269-122686319	SKMC	muscle:	n/a
49	chr4:122686269-122686319	HCT-116	colon:	n/a
50	chr4:122686269-122686319	HL-60	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC079341.1-5	chr4:122685740-122687963	NR_024365

No data

Variant related genes	Relation type
TMEM155	TF binding region
TMEM155	CpG island

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10001422	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10011665	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10470915	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10471016	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11930525	0.95[EUR][1000 genomes]
rs11937861	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11947643	0.84[EUR][1000 genomes]
rs1574283	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17051397	0.83[EUR][1000 genomes]
rs17051398	0.86[EUR][1000 genomes]
rs28515183	0.95[EUR][1000 genomes]
rs28676474	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3903026	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4077754	0.81[EUR][1000 genomes]
rs4309856	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4508913	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4522884	0.86[EUR][1000 genomes]
rs4571354	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56221685	0.83[EUR][1000 genomes]
rs58127039	0.93[EUR][1000 genomes]
rs59796939	0.86[EUR][1000 genomes]
rs61665948	0.81[EUR][1000 genomes]
rs6534322	0.82[EUR][1000 genomes]
rs6823340	0.83[EUR][1000 genomes]
rs6858061	0.83[EUR][1000 genomes]
rs72913994	0.95[EUR][1000 genomes]
rs72915905	0.84[EUR][1000 genomes]
rs73844293	0.83[EUR][1000 genomes]
rs73844294	0.83[EUR][1000 genomes]
rs7661218	0.83[EUR][1000 genomes]
rs7684547	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers 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	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS 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

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122684800-122686400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:122685000-122687000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr4:122685200-122686400	Bivalent Enhancer	Fetal Thymus	thymus
4	chr4:122685200-122686600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr4:122685200-122686600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr4:122685200-122686600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr4:122685200-122686600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr4:122685200-122686600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
9	chr4:122685200-122686600	Bivalent/Poised TSS	Fetal Kidney	kidney
10	chr4:122685200-122686800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr4:122685200-122686800	Active TSS	HSMM	muscle
12	chr4:122685200-122686800	Active TSS	NHLF	lung
13	chr4:122685400-122686400	Bivalent/Poised TSS	Placenta	Placenta
14	chr4:122685400-122686600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr4:122685400-122687000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr4:122685400-122687000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:122685600-122686400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:122685600-122686600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:122685600-122686600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:122685600-122686600	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr4:122685600-122686600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr4:122685600-122686600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
23	chr4:122685600-122686600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:122685600-122686600	Weak transcription	Fetal Heart	heart
25	chr4:122685600-122686600	Active TSS	Placenta Amnion	Placenta Amnion
26	chr4:122685600-122686800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:122685600-122686800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:122685600-122686800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:122685600-122686800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
30	chr4:122685600-122686800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:122685600-122686800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:122685600-122686800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
33	chr4:122685600-122686800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
34	chr4:122685600-122686800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
35	chr4:122685600-122686800	Bivalent/Poised TSS	Thymus	Thymus
36	chr4:122685600-122686800	Active TSS	HSMMtube	muscle
37	chr4:122685600-122686800	Bivalent/Poised TSS	NH-A	brain
38	chr4:122685600-122687000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:122685600-122687000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:122685600-122687000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:122685600-122687000	Active TSS	NHDF-Ad	bronchial
42	chr4:122685600-122687000	Bivalent/Poised TSS	NHEK	skin
43	chr4:122685600-122687200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr4:122685600-122687200	Active TSS	Brain Angular Gyrus	brain
45	chr4:122685800-122686400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
46	chr4:122685800-122686400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:122685800-122686400	Bivalent/Poised TSS	Fetal Stomach	stomach
48	chr4:122685800-122686600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:122685800-122686600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:122685800-122686600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived

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