Variant report

Variant	rs149301881
Chromosome Location	chr4:122872468-122872469
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	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	ZNF263	chr4:122871257-122873108	HEK293-T-REx	kidney:	n/a	n/a
5	POLR2A	chr4:122871934-122873211	Gliobla	brain:	n/a	n/a
6	ZBTB7A	chr4:122871933-122873135	ECC-1	luminal epithelium:	n/a	chr4:122872914-122872921 chr4:122872440-122872449
7	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
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	MAX	chr4:122872298-122872585	K562	blood:	n/a	chr4:122872389-122872399
11	MXI1	chr4:122872092-122872548	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr4:122872340-122873188	K562	blood:	n/a	chr4:122872959-122872970 chr4:122873140-122873150 chr4:122872958-122872970 chr4:122872837-122872847 chr4:122873030-122873040
13	CTBP2	chr4:122871263-122873117	H1-hESC	embryonic stem cell:	n/a	n/a
14	UBTF	chr4:122872405-122873433	K562	blood:	n/a	n/a
15	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
16	MAX	chr4:122871471-122873150	ECC-1	luminal epithelium:	n/a	chr4:122872389-122872399
17	E2F6	chr4:122872417-122873150	K562	blood:	n/a	chr4:122872959-122872970 chr4:122873140-122873150 chr4:122872958-122872970 chr4:122872837-122872847 chr4:122873030-122873040
18	MAX	chr4:122872259-122873012	H1-hESC	embryonic stem cell:	n/a	chr4:122872389-122872399

Variant related genes	Relation type
TRPC3	TF binding region

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	chr4:122871000-122872600	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	chr4:122871200-122872600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
11	chr4:122871200-122872600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr4:122871200-122872600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:122871200-122872600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
14	chr4:122871200-122872800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
15	chr4:122871200-122872800	Active TSS	Right Atrium	heart
16	chr4:122871200-122873000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:122871200-122873000	Bivalent/Poised TSS	A549	lung
18	chr4:122871200-122873200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:122871200-122873200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:122871200-122873200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:122871200-122873200	Active TSS	Brain Angular Gyrus	brain
22	chr4:122871200-122873200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
23	chr4:122871200-122873400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:122871200-122873400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:122871200-122873400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:122871200-122873400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:122871200-122873400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:122871200-122873400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:122871200-122873400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:122871200-122873400	Active TSS	Colon Smooth Muscle	Colon
31	chr4:122871200-122873400	Active TSS	HSMM	muscle
32	chr4:122871200-122873600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
33	chr4:122871200-122873600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:122871200-122873600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:122871200-122873600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:122871200-122873600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:122871200-122873600	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr4:122871200-122873600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:122871200-122873600	Active TSS	Brain Substantia Nigra	brain
40	chr4:122871200-122873600	Bivalent/Poised TSS	Fetal Lung	lung
41	chr4:122871200-122873600	Active TSS	K562	blood
42	chr4:122871200-122873800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
43	chr4:122871200-122874000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
44	chr4:122871400-122872600	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr4:122871400-122872800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr4:122871400-122873200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:122871400-122873200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:122871400-122873200	Bivalent/Poised TSS	Fetal Stomach	stomach
49	chr4:122871400-122873200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
50	chr4:122871400-122873400	Active TSS	Breast Myoepithelial Primary Cells	Breast

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