Variant report

Variant	rs4379840
Chromosome Location	chr11:3855868-3855869
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:107)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr11:3855778-3856164	GM12878	blood:	n/a	n/a
2	SPI1	chr11:3855797-3856083	GM12878	blood:	n/a	n/a
3	CEBPD	chr11:3855683-3856524	K562	blood:	n/a	n/a
4	RAD21	chr11:3855845-3856062	K562	blood:	n/a	n/a
5	POLR2A	chr11:3855408-3855940	GM12892	blood:	n/a	n/a
6	SPI1	chr11:3855842-3856245	K562	blood:	n/a	n/a
7	SP1	chr11:3855703-3856369	K562	blood:	n/a	chr11:3856005-3856019 chr11:3855928-3855941 chr11:3856009-3856018 chr11:3856180-3856187
8	POLR2A	chr11:3855310-3857244	GM12892	blood:	n/a	n/a
9	MXI1	chr11:3855810-3856389	K562	blood:	n/a	n/a
10	MAX	chr11:3855647-3856162	K562	blood:	n/a	n/a
11	POLR2A	chr11:3855271-3857405	HL-60	blood:	n/a	n/a
12	MAFK	chr11:3855598-3856660	K562	blood:	n/a	n/a
13	CEBPB	chr11:3855798-3856595	K562	blood:	n/a	n/a
14	CEBPD	chr11:3855638-3856719	K562	blood:	n/a	n/a
15	MYC	chr11:3855509-3856682	K562	blood:	n/a	n/a
16	POLR2A	chr11:3855661-3855878	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr11:3855676-3856189	K562	blood:	n/a	n/a
18	TBP	chr11:3855585-3856662	K562	blood:	n/a	n/a
19	IRF1	chr11:3855432-3856651	K562	blood:	n/a	chr11:3855790-3855799
20	MAZ	chr11:3855600-3856709	K562	blood:	n/a	n/a
21	REST	chr11:3855536-3856194	HL-60	blood:	n/a	chr11:3855808-3855821
22	MAX	chr11:3855689-3856208	NB4	blood:	n/a	n/a
23	STAT5A	chr11:3855620-3856617	K562	blood:	n/a	chr11:3856251-3856260 chr11:3856003-3856015 chr11:3856010-3856022 chr11:3856252-3856261
24	FAM48A	chr11:3855674-3855874	GM12878	blood:	n/a	n/a
25	TEAD4	chr11:3855442-3856970	K562	blood:	n/a	n/a
26	ARID3A	chr11:3855670-3856589	K562	blood:	n/a	n/a
27	YY1	chr11:3855765-3856156	K562	blood:	n/a	chr11:3856009-3856020
28	CBX3	chr11:3855769-3856118	K562	blood:	n/a	n/a
29	SPI1	chr11:3855821-3856128	GM12891	blood:	n/a	n/a
30	YY1	chr11:3855800-3856078	K562	blood:	n/a	chr11:3856009-3856020
31	TAF1	chr11:3855645-3856078	K562	blood:	n/a	n/a
32	GATA2	chr11:3855762-3856589	K562	blood:	n/a	chr11:3855851-3855859 chr11:3856032-3856045
33	POLR2A	chr11:3855265-3857252	GM12878	blood:	n/a	n/a
34	GATA2	chr11:3855741-3856375	K562	blood:	n/a	chr11:3855851-3855859 chr11:3856032-3856045
35	POLR2A	chr11:3855456-3855873	GM12878	blood:	n/a	n/a
36	MAFF	chr11:3855697-3856069	K562	blood:	n/a	n/a
37	NR2F2	chr11:3855379-3857159	K562	blood:	n/a	n/a
38	ELF1	chr11:3855717-3856103	K562	blood:	n/a	n/a
39	POLR2A	chr11:3855047-3856209	K562	blood:	n/a	n/a
40	MYC	chr11:3855689-3856733	K562	blood:	n/a	n/a
41	UBTF	chr11:3855535-3856667	K562	blood:	n/a	n/a
42	ZNF384	chr11:3855844-3856143	K562	blood:	n/a	n/a
43	TRIM28	chr11:3855844-3856121	K562	blood:	n/a	n/a
44	MYC	chr11:3855743-3856191	NB4	blood:	n/a	n/a
45	ATF1	chr11:3855828-3856648	K562	blood:	n/a	n/a
46	ELF1	chr11:3855614-3856887	K562	blood:	n/a	n/a
47	POLR2A	chr11:3854589-3857071	GM12878	blood:	n/a	n/a
48	JUN	chr11:3855666-3856968	K562	blood:	n/a	n/a
49	POLR2A	chr11:3855444-3857172	K562	blood:	n/a	n/a
50	TEAD4	chr11:3855667-3856705	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:3855821-3855871	SK-N-SH	brain:	n/a
2	chr11:3855821-3855871	BJ	skin:	n/a
3	chr11:3855821-3855871	HRE	kidney:	n/a
4	chr11:3855821-3855871	HCPEpiC	choroid plexus:	n/a
5	chr11:3855821-3855871	HRCEpiC	kidney:	n/a
6	chr11:3855821-3855871	PFSK-1	brain:	n/a
7	chr11:3855821-3855871	AG04450	lung:	fetal
8	chr11:3855821-3855871	PANC-1	pancreas:	n/a
9	chr11:3855821-3855871	LNCaP	prostate:	n/a
10	chr11:3855821-3855871	Hela-S3	cervix:	n/a
11	chr11:3855821-3855871	Hepatocyte	liver:	n/a
12	chr11:3855821-3855871	HIPEpiC	eye:	n/a
13	chr11:3855821-3855871	HL-60	blood:	n/a
14	chr11:3855821-3855871	ProgFib	skin:	n/a
15	chr11:3855821-3855871	MCF10A-Er-Src	breast:	n/a
16	chr11:3855821-3855871	HNPCEpiC	eye:	n/a
17	chr11:3855821-3855871	PrEC	prostate:	n/a
18	chr11:3855821-3855871	NH-A	brain:	n/a
19	chr11:3855821-3855871	Jurkat	blood:	n/a
20	chr11:3855821-3855871	SAEC	small airway:	n/a
21	chr11:3855821-3855871	BE2_C	brain:	n/a
22	chr11:3855821-3855871	HEEpiC	esophagus:	n/a
23	chr11:3855821-3855871	AG09319	gingival:	n/a
24	chr11:3855821-3855871	AG09309	skin:	n/a
25	chr11:3855821-3855871	AG04449	skin:	fetal
26	chr11:3855821-3855871	ovcar-3	ovarian:	n/a
27	chr11:3855821-3855871	AG10803	skin:	n/a
28	chr11:3855821-3855871	HUVEC	blood vessel:	n/a
29	chr11:3855821-3855871	HepG2	liver:	n/a
30	chr11:3855821-3855871	HCT-116	colon:	n/a
31	chr11:3855821-3855871	MCF-7	breast:	n/a
32	chr11:3855821-3855871	HAEpiC	amniotic membrane:	n/a
33	chr11:3855821-3855871	Caco-2	colon:	n/a
34	chr11:3855821-3855871	NHDF-neo	bronchial:	n/a
35	chr11:3855821-3855871	SKMC	muscle:	n/a
36	chr11:3855821-3855871	HEK293	kidney:	embryo
37	chr11:3855821-3855871	HPAEpiC	pulmonary alveolar:	n/a
38	chr11:3855821-3855871	IMR90	lung:	fetal
39	chr11:3855821-3855871	GM19239	blood:	n/a
40	chr11:3855821-3855871	SK-N-MC	brain:	n/a
41	chr11:3855821-3855871	GM12891	blood:	n/a
42	chr11:3855821-3855871	HCF	heart:	n/a
43	chr11:3855821-3855871	ECC-1	luminal epithelium:	n/a
44	chr11:3855821-3855871	U87	brain:	n/a
45	chr11:3855821-3855871	SK-N-SH_RA	brain:	n/a
46	chr11:3855821-3855871	RPTEC	kidney:	n/a
47	chr11:3855821-3855871	CMK	blood:	n/a
48	chr11:3855821-3855871	NHBE	bronchial:	n/a
49	chr11:3855821-3855871	AoSMC	blood vessel:	n/a
50	chr11:3855821-3855871	T-47D	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:3830424..3832547-chr11:3854238..3857029,2	K562	blood:
2	chr11:3855085..3856960-chr11:3875832..3877363,2	K562	blood:
3	chr11:3855651..3858581-chr11:3874528..3876405,2	K562	blood:
4	chr11:3853798..3856714-chr11:3858547..3860187,2	MCF-7	breast:
5	chr11:3815959..3820545-chr11:3854514..3864703,12	K562	blood:
6	chr11:3815959..3818805-chr11:3854907..3857637,4	K562	blood:
7	chr11:3855443..3857782-chr11:3869074..3871909,2	K562	blood:

No data

Variant related genes	Relation type
RHOG	TF binding region
RHOG	CpG island
ENSG00000167323	Chromatin interaction
ENSG00000177105	Chromatin interaction
ENSG00000110713	Chromatin interaction
ENSG00000148985	Chromatin interaction
ENSG00000263421	Chromatin interaction
ENSG00000228661	Chromatin interaction
ENSG00000229368	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1451722	0.99[ASN][1000 genomes]
rs1451723	0.99[ASN][1000 genomes]
rs1451724	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4397843	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4597058	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][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	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1803195	chr11:3806490-3924156	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1038220	chr11:3818041-3860024	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv1044882	chr11:3828986-3860024	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1044360	chr11:3832288-3860024	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3830600-3861000	Weak transcription	Fetal Kidney	kidney
2	chr11:3844000-3857000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:3844400-3856200	Strong transcription	Fetal Stomach	stomach
4	chr11:3844800-3857000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:3845000-3856000	Weak transcription	HUVEC	blood vessel
6	chr11:3848400-3861000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:3848600-3858200	Weak transcription	NHDF-Ad	bronchial
8	chr11:3849400-3856000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:3849400-3856000	Weak transcription	Brain Germinal Matrix	brain
10	chr11:3849400-3859000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:3849600-3856400	Weak transcription	Ovary	ovary
12	chr11:3849600-3861000	Weak transcription	HSMMtube	muscle
13	chr11:3849800-3856200	Weak transcription	HSMM	muscle
14	chr11:3851600-3856000	Weak transcription	NH-A	brain
15	chr11:3851600-3857200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:3851800-3856000	Weak transcription	Fetal Lung	lung
17	chr11:3852000-3856000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:3852000-3856000	Enhancers	Brain Substantia Nigra	brain
19	chr11:3852000-3856600	Genic enhancers	Primary B cells from peripheral blood	blood
20	chr11:3852000-3858600	Enhancers	Brain Anterior Caudate	brain
21	chr11:3852200-3856200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr11:3852200-3857000	Genic enhancers	Spleen	Spleen
23	chr11:3852200-3859800	Enhancers	Right Ventricle	heart
24	chr11:3852200-3860800	Enhancers	Small Intestine	intestine
25	chr11:3852400-3856000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:3852400-3856000	Weak transcription	Osteobl	bone
27	chr11:3852400-3857200	Genic enhancers	Fetal Thymus	thymus
28	chr11:3852400-3859800	Weak transcription	Fetal Brain Female	brain
29	chr11:3852600-3856000	Enhancers	Pancreas	Pancrea
30	chr11:3852600-3857800	Transcr. at gene 5' and 3'	K562	blood
31	chr11:3852600-3860400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
32	chr11:3852800-3856800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr11:3853000-3858200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:3853000-3858200	Enhancers	Brain Cingulate Gyrus	brain
35	chr11:3853200-3856400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:3853600-3859000	Genic enhancers	Fetal Intestine Small	intestine
37	chr11:3853600-3860800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:3853800-3856200	Weak transcription	A549	lung
39	chr11:3853800-3856600	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
40	chr11:3854000-3856000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr11:3854000-3856000	Weak transcription	Fetal Heart	heart
42	chr11:3854000-3856000	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr11:3854200-3860000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:3854600-3857000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr11:3854600-3858800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
46	chr11:3854600-3860200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr11:3854600-3860800	Enhancers	Placenta	Placenta
48	chr11:3854800-3857200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:3854800-3857400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
50	chr11:3854800-3857600	Strong transcription	NHLF	lung

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