Variant report

Variant	rs570776516
Chromosome Location	chr4:122872867-122872868
allele	C/T
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	SIN3A	chr4:122871263-122872994	H1-hESC	embryonic stem cell:	n/a	chr4:122871556-122871567 chr4:122871881-122871894
2	ELF1	chr4:122872657-122873218	GM12878	blood:	n/a	chr4:122873142-122873151 chr4:122873139-122873148
3	E2F6	chr4:122872815-122873093	K562	blood:	n/a	chr4:122872959-122872970 chr4:122872958-122872970 chr4:122872837-122872847 chr4:122873030-122873040
4	ZBTB7A	chr4:122871863-122872992	ECC-1	luminal epithelium:	n/a	chr4:122872914-122872921 chr4:122872440-122872449
5	MAX	chr4:122872201-122873229	H1-hESC	embryonic stem cell:	n/a	chr4:122872389-122872399
6	POLR2A	chr4:122872603-122873389	H1-neurons	neurons:	n/a	n/a
7	ELF1	chr4:122872655-122873096	K562	blood:	n/a	n/a
8	E2F6	chr4:122872646-122873176	A549	lung:	n/a	chr4:122872959-122872970 chr4:122873140-122873150 chr4:122872958-122872970 chr4:122872837-122872847 chr4:122873030-122873040
9	CHD1	chr4:122872765-122872911	H1-hESC	embryonic stem cell:	n/a	n/a
10	RUNX3	chr4:122872724-122873003	GM12878	blood:	n/a	n/a
11	ZNF263	chr4:122871257-122873108	HEK293-T-REx	kidney:	n/a	n/a
12	POLR2A	chr4:122871934-122873211	Gliobla	brain:	n/a	n/a
13	ZBTB7A	chr4:122871933-122873135	ECC-1	luminal epithelium:	n/a	chr4:122872914-122872921 chr4:122872440-122872449
14	MAX	chr4:122872696-122873163	HepG2	liver:	n/a	n/a
15	E2F6	chr4:122872337-122873256	H1-hESC	embryonic stem cell:	n/a	chr4:122872959-122872970 chr4:122873140-122873150 chr4:122872958-122872970 chr4:122872837-122872847 chr4:122873030-122873040
16	MAX	chr4:122872109-122873255	ECC-1	luminal epithelium:	n/a	chr4:122872389-122872399
17	ZNF263	chr4:122871318-122873106	K562	blood:	n/a	n/a
18	UBTF	chr4:122872836-122873077	K562	blood:	n/a	n/a
19	GABPA	chr4:122872659-122873100	K562	blood:	n/a	n/a
20	POLR2A	chr4:122872664-122873303	H1-neurons	neurons:	n/a	n/a
21	MAX	chr4:122872618-122873145	K562	blood:	n/a	n/a
22	MAX	chr4:122872564-122872963	K562	blood:	n/a	n/a
23	E2F6	chr4:122872340-122873188	K562	blood:	n/a	chr4:122872959-122872970 chr4:122873140-122873150 chr4:122872958-122872970 chr4:122872837-122872847 chr4:122873030-122873040
24	CTBP2	chr4:122871263-122873117	H1-hESC	embryonic stem cell:	n/a	n/a
25	RCOR1	chr4:122872677-122873370	K562	blood:	n/a	n/a
26	HMGN3	chr4:122872672-122873490	K562	blood:	n/a	n/a
27	MAX	chr4:122872670-122873226	A549	lung:	n/a	n/a
28	CHD2	chr4:122872850-122873044	K562	blood:	n/a	n/a
29	UBTF	chr4:122872405-122873433	K562	blood:	n/a	n/a
30	RAD21	chr4:122872800-122873196	IMR90	lung:	n/a	n/a
31	HCFC1	chr4:122872771-122872867	K562	blood:	n/a	n/a
32	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
33	MAX	chr4:122871471-122873150	ECC-1	luminal epithelium:	n/a	chr4:122872389-122872399
34	CTCF	chr4:122872820-122872970	GM12865	blood:	n/a	n/a
35	ELF1	chr4:122872669-122873098	K562	blood:	n/a	n/a
36	CCNT2	chr4:122872730-122873119	K562	blood:	n/a	n/a
37	EP300	chr4:122872624-122873237	ECC-1	luminal epithelium:	n/a	chr4:122873132-122873148 chr4:122873141-122873150
38	RAD21	chr4:122872832-122872897	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr4:122872823-122873063	K562	blood:	n/a	n/a
40	CTCF	chr4:122872820-122872970	GM12866	blood:	n/a	n/a
41	E2F6	chr4:122872417-122873150	K562	blood:	n/a	chr4:122872959-122872970 chr4:122873140-122873150 chr4:122872958-122872970 chr4:122872837-122872847 chr4:122873030-122873040
42	YY1	chr4:122872694-122873094	ECC-1	luminal epithelium:	n/a	chr4:122873060-122873074
43	ZBTB7A	chr4:122872543-122873019	K562	blood:	n/a	chr4:122872914-122872921
44	TCF12	chr4:122872604-122873169	ECC-1	luminal epithelium:	n/a	n/a
45	NANOG	chr4:122872713-122873074	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr4:122872259-122873012	H1-hESC	embryonic stem cell:	n/a	chr4:122872389-122872399

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:122872838-122872888	HCM	heart:	n/a
2	chr4:122872836-122872886	K562	blood:	n/a
3	chr4:122872838-122872888	PFSK-1	brain:	n/a
4	chr4:122872838-122872888	HRCEpiC	kidney:	n/a
5	chr4:122872836-122872886	Hela-S3	cervix:	n/a
6	chr4:122872836-122872886	HCT-116	colon:	n/a
7	chr4:122872838-122872888	HCPEpiC	choroid plexus:	n/a
8	chr4:122872836-122872886	CMK	blood:	n/a
9	chr4:122872838-122872888	ovcar-3	ovarian:	n/a
10	chr4:122872838-122872888	Hela-S3	cervix:	n/a
11	chr4:122872836-122872886	Hepatocyte	liver:	n/a
12	chr4:122872838-122872888	HPAEpiC	pulmonary alveolar:	n/a
13	chr4:122872836-122872886	SKMC	muscle:	n/a
14	chr4:122872836-122872886	HCM	heart:	n/a
15	chr4:122872836-122872886	U87	brain:	n/a
16	chr4:122872836-122872886	AG04450	lung:	fetal
17	chr4:122872836-122872886	IMR90	lung:	fetal
18	chr4:122872838-122872888	HIPEpiC	eye:	n/a
19	chr4:122872836-122872886	SK-N-SH	brain:	n/a
20	chr4:122872838-122872888	HL-60	blood:	n/a
21	chr4:122872836-122872886	RPTEC	kidney:	n/a
22	chr4:122872836-122872886	AG10803	skin:	n/a
23	chr4:122872838-122872888	AG09309	skin:	n/a
24	chr4:122872836-122872886	AG09319	gingival:	n/a
25	chr4:122872838-122872888	ProgFib	skin:	n/a
26	chr4:122872836-122872886	GM12891	blood:	n/a
27	chr4:122872836-122872886	HepG2	liver:	n/a
28	chr4:122872838-122872888	RPTEC	kidney:	n/a
29	chr4:122872838-122872888	BJ	skin:	n/a
30	chr4:122872836-122872886	NT2-D1	testis:	n/a
31	chr4:122872836-122872886	HIPEpiC	eye:	n/a
32	chr4:122872836-122872886	GM12892	blood:	n/a
33	chr4:122872836-122872886	HCF	heart:	n/a
34	chr4:122872838-122872888	NHBE	bronchial:	n/a
35	chr4:122872836-122872886	HEK293	kidney:	embryo
36	chr4:122872836-122872886	HMEC	breast:	n/a
37	chr4:122872836-122872886	LNCaP	prostate:	n/a
38	chr4:122872838-122872888	LNCaP	prostate:	n/a
39	chr4:122872838-122872888	AG09319	gingival:	n/a
40	chr4:122872836-122872886	ovcar-3	ovarian:	n/a
41	chr4:122872838-122872888	HCF	heart:	n/a
42	chr4:122872838-122872888	AoSMC	blood vessel:	n/a
43	chr4:122872838-122872888	HEEpiC	esophagus:	n/a
44	chr4:122872838-122872888	NH-A	brain:	n/a
45	chr4:122872838-122872888	MCF10A-Er-Src	breast:	n/a
46	chr4:122872838-122872888	BE2_C	brain:	n/a
47	chr4:122872838-122872888	HRPEpiC	eye:	n/a
48	chr4:122872836-122872886	NH-A	brain:	n/a
49	chr4:122872838-122872888	PrEC	prostate:	n/a
50	chr4:122872838-122872888	HNPCEpiC	eye:	n/a

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:121 , 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	chr4:122871000-122873000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:122871000-122873400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr4:122871000-122873600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr4:122871000-122873600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr4:122871000-122873600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr4:122871000-122873600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr4:122871200-122873000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:122871200-122873000	Bivalent/Poised TSS	A549	lung
11	chr4:122871200-122873200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:122871200-122873200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:122871200-122873200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:122871200-122873200	Active TSS	Brain Angular Gyrus	brain
15	chr4:122871200-122873200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
16	chr4:122871200-122873400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:122871200-122873400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:122871200-122873400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:122871200-122873400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:122871200-122873400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:122871200-122873400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:122871200-122873400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:122871200-122873400	Active TSS	Colon Smooth Muscle	Colon
24	chr4:122871200-122873400	Active TSS	HSMM	muscle
25	chr4:122871200-122873600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
26	chr4:122871200-122873600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:122871200-122873600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:122871200-122873600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:122871200-122873600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:122871200-122873600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr4:122871200-122873600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:122871200-122873600	Active TSS	Brain Substantia Nigra	brain
33	chr4:122871200-122873600	Bivalent/Poised TSS	Fetal Lung	lung
34	chr4:122871200-122873600	Active TSS	K562	blood
35	chr4:122871200-122873800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
36	chr4:122871200-122874000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
37	chr4:122871400-122873200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr4:122871400-122873200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:122871400-122873200	Bivalent/Poised TSS	Fetal Stomach	stomach
40	chr4:122871400-122873200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
41	chr4:122871400-122873400	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr4:122871400-122873400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr4:122871400-122873400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:122871400-122873400	Active TSS	Brain Anterior Caudate	brain
45	chr4:122871400-122873400	Active TSS	Rectal Smooth Muscle	rectum
46	chr4:122871400-122873400	Active TSS	NHDF-Ad	bronchial
47	chr4:122871400-122873400	Active TSS	NHLF	lung
48	chr4:122871600-122873200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:122871600-122873200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
50	chr4:122871600-122873200	Flanking Bivalent TSS/Enh	HMEC	breast

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