Variant report

Variant	rs114166592
Chromosome Location	chr4:122872288-122872289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr4:122871263-122872994	H1-hESC	embryonic stem cell:	n/a	chr4:122871556-122871567 chr4:122871881-122871894
2	ZBTB7A	chr4:122871863-122872992	ECC-1	luminal epithelium:	n/a	chr4:122872914-122872921 chr4:122872440-122872449
3	MAX	chr4:122872201-122873229	H1-hESC	embryonic stem cell:	n/a	chr4:122872389-122872399
4	BACH1	chr4:122872228-122872422	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF263	chr4:122871257-122873108	HEK293-T-REx	kidney:	n/a	n/a
6	POLR2A	chr4:122871934-122873211	Gliobla	brain:	n/a	n/a
7	ZBTB7A	chr4:122871933-122873135	ECC-1	luminal epithelium:	n/a	chr4:122872914-122872921 chr4:122872440-122872449
8	MAX	chr4:122872109-122873255	ECC-1	luminal epithelium:	n/a	chr4:122872389-122872399
9	ZNF263	chr4:122871318-122873106	K562	blood:	n/a	n/a
10	HMGN3	chr4:122872108-122872362	K562	blood:	n/a	n/a
11	MXI1	chr4:122872092-122872548	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTBP2	chr4:122871263-122873117	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F6	chr4:122872143-122873332	H1-hESC	embryonic stem cell:	n/a	chr4:122872959-122872970 chr4:122873140-122873150 chr4:122872958-122872970 chr4:122872837-122872847 chr4:122873030-122873040
14	MAX	chr4:122871471-122873150	ECC-1	luminal epithelium:	n/a	chr4:122872389-122872399
15	E2F6	chr4:122872242-122872410	K562	blood:	n/a	n/a
16	POLR2A	chr4:122872176-122872300	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr4:122872259-122873012	H1-hESC	embryonic stem cell:	n/a	chr4:122872389-122872399

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:122872285-122872335	AG04450	lung:	fetal
2	chr4:122872285-122872335	HRCEpiC	kidney:	n/a
3	chr4:122872285-122872335	K562	blood:	n/a
4	chr4:122872285-122872335	ECC-1	luminal epithelium:	n/a
5	chr4:122872285-122872335	SK-N-SH_RA	brain:	n/a
6	chr4:122872285-122872335	HAEpiC	amniotic membrane:	n/a
7	chr4:122872285-122872335	A549	lung:	n/a
8	chr4:122872285-122872335	MCF10A-Er-Src	breast:	n/a
9	chr4:122872285-122872335	NHDF-neo	bronchial:	n/a
10	chr4:122872285-122872335	GM19239	blood:	n/a
11	chr4:122872285-122872335	HL-60	blood:	n/a
12	chr4:122872285-122872335	HEK293	kidney:	embryo
13	chr4:122872285-122872335	GM12878	blood:	n/a
14	chr4:122872285-122872335	ProgFib	skin:	n/a
15	chr4:122872285-122872335	HIPEpiC	eye:	n/a
16	chr4:122872285-122872335	HPAEpiC	pulmonary alveolar:	n/a
17	chr4:122872285-122872335	IMR90	lung:	fetal
18	chr4:122872285-122872335	LNCaP	prostate:	n/a
19	chr4:122872285-122872335	AG09309	skin:	n/a
20	chr4:122872285-122872335	HEEpiC	esophagus:	n/a
21	chr4:122872285-122872335	CMK	blood:	n/a
22	chr4:122872285-122872335	MCF-7	breast:	n/a
23	chr4:122872285-122872335	NT2-D1	testis:	n/a
24	chr4:122872285-122872335	Hepatocyte	liver:	n/a
25	chr4:122872285-122872335	Hela-S3	cervix:	n/a
26	chr4:122872285-122872335	SK-N-SH	brain:	n/a
27	chr4:122872285-122872335	HMEC	breast:	n/a
28	chr4:122872285-122872335	GM12892	blood:	n/a
29	chr4:122872285-122872335	AoSMC	blood vessel:	n/a
30	chr4:122872285-122872335	BE2_C	brain:	n/a
31	chr4:122872285-122872335	AG10803	skin:	n/a
32	chr4:122872285-122872335	H1-hESC	embryonic stem cell:	embryo
33	chr4:122872285-122872335	SK-N-MC	brain:	n/a
34	chr4:122872285-122872335	AG09319	gingival:	n/a
35	chr4:122872285-122872335	HCF	heart:	n/a
36	chr4:122872285-122872335	HNPCEpiC	eye:	n/a
37	chr4:122872285-122872335	Caco-2	colon:	n/a
38	chr4:122872285-122872335	HCPEpiC	choroid plexus:	n/a
39	chr4:122872285-122872335	Jurkat	blood:	n/a
40	chr4:122872285-122872335	AG04449	skin:	fetal
41	chr4:122872285-122872335	HRPEpiC	eye:	n/a
42	chr4:122872285-122872335	NHBE	bronchial:	n/a
43	chr4:122872285-122872335	GM06990	blood:	n/a
44	chr4:122872285-122872335	GM12891	blood:	n/a
45	chr4:122872285-122872335	ovcar-3	ovarian:	n/a
46	chr4:122872285-122872335	NH-A	brain:	n/a
47	chr4:122872285-122872335	HCT-116	colon:	n/a
48	chr4:122872285-122872335	PANC-1	pancreas:	n/a
49	chr4:122872285-122872335	HRE	kidney:	n/a
50	chr4:122872285-122872335	BJ	skin:	n/a

No data

Variant related genes	Relation type
TRPC3	TF binding region
TRPC3	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv1843861	chr4:122871632-122878371	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
5	esv1844606	chr4:122871632-122878371	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
6	esv3409009	chr4:122871727-122874275	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
7	esv18693	chr4:122872273-122873108	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122870800-122873400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr4:122870800-122873800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr4:122871000-122872600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr4:122871000-122873000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:122871000-122873400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr4:122871000-122873600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr4:122871000-122873600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr4:122871000-122873600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr4:122871000-122873600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr4:122871200-122872400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
11	chr4:122871200-122872400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
12	chr4:122871200-122872400	Flanking Bivalent TSS/Enh	HepG2	liver
13	chr4:122871200-122872600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
14	chr4:122871200-122872600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr4:122871200-122872600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:122871200-122872600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
17	chr4:122871200-122872800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
18	chr4:122871200-122872800	Active TSS	Right Atrium	heart
19	chr4:122871200-122873000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:122871200-122873000	Bivalent/Poised TSS	A549	lung
21	chr4:122871200-122873200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:122871200-122873200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:122871200-122873200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:122871200-122873200	Active TSS	Brain Angular Gyrus	brain
25	chr4:122871200-122873200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
26	chr4:122871200-122873400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:122871200-122873400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:122871200-122873400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:122871200-122873400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:122871200-122873400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:122871200-122873400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr4:122871200-122873400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:122871200-122873400	Active TSS	Colon Smooth Muscle	Colon
34	chr4:122871200-122873400	Active TSS	HSMM	muscle
35	chr4:122871200-122873600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
36	chr4:122871200-122873600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:122871200-122873600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:122871200-122873600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:122871200-122873600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:122871200-122873600	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr4:122871200-122873600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:122871200-122873600	Active TSS	Brain Substantia Nigra	brain
43	chr4:122871200-122873600	Bivalent/Poised TSS	Fetal Lung	lung
44	chr4:122871200-122873600	Active TSS	K562	blood
45	chr4:122871200-122873800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
46	chr4:122871200-122874000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
47	chr4:122871400-122872400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:122871400-122872400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
49	chr4:122871400-122872400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
50	chr4:122871400-122872400	Bivalent/Poised TSS	Psoas Muscle	Psoas

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