Variant report

Variant	rs191456006
Chromosome Location	chr4:16227244-16227245
allele	A/G
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	MAZ	chr4:16227203-16229671	IMR90	lung:	n/a	chr4:16228103-16228113
2	MXI1	chr4:16227193-16229611	IMR90	lung:	n/a	n/a
3	POLR2A	chr4:16226799-16229901	GM12891	blood:	n/a	n/a
4	CTCF	chr4:16226904-16227500	K562	blood:	n/a	chr4:16227285-16227293
5	POLR2A	chr4:16226421-16229959	MCF10A-Er-Src	breast:	n/a	n/a
6	HCFC1	chr4:16226663-16228826	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr4:16227149-16228398	K562	blood:	n/a	n/a
8	MAZ	chr4:16227133-16228936	GM12878	blood:	n/a	chr4:16228103-16228113
9	MYC	chr4:16226953-16227482	MCF10A-Er-Src	breast:	n/a	n/a
10	TBP	chr4:16226575-16227520	Hela-S3	cervix:	n/a	n/a
11	SMARCB1	chr4:16227115-16229497	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr4:16226639-16229966	PBDE	blood:	n/a	n/a
13	MXI1	chr4:16227219-16227562	K562	blood:	n/a	n/a
14	CHD1	chr4:16226879-16227693	GM12878	blood:	n/a	n/a
15	TBL1XR1	chr4:16226346-16227606	K562	blood:	n/a	n/a
16	POLR2A	chr4:16226783-16230420	Raji	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:16212529..16219737-chr4:16225844..16229602,8	MCF-7	breast:
2	chr4:15002785..15006911-chr4:16226901..16230678,5	K562	blood:
3	chr4:15681714..15684664-chr4:16226494..16229781,3	K562	blood:

Variant related genes	Relation type
TAPT1-AS1	TF binding region
ENSG00000237765	Chromatin interaction
ENSG00000247624	Chromatin interaction
ENSG00000137449	Chromatin interaction
ENSG00000169762	Chromatin interaction
ENSG00000118564	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv878720	chr4:16222046-16242215	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv537048	chr4:16226406-16375787	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3405372	chr4:16226679-16229727	Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv3489117	chr4:16226904-16229802	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv3489118	chr4:16226904-16229802	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16224800-16227600	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr4:16225600-16227400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr4:16225600-16227600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr4:16225600-16230800	Active TSS	A549	lung
5	chr4:16225800-16227400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:16225800-16227400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr4:16225800-16227400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr4:16225800-16227400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr4:16225800-16227600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:16225800-16230000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:16226000-16227400	Flanking Active TSS	Brain Germinal Matrix	brain
12	chr4:16226000-16227600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr4:16226200-16227400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:16226200-16227600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:16226200-16227600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:16226200-16229600	Active TSS	Right Atrium	heart
17	chr4:16226400-16227400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:16226400-16227400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr4:16226400-16227400	Weak transcription	Gastric	stomach
20	chr4:16226400-16227400	Weak transcription	Spleen	Spleen
21	chr4:16226400-16228400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:16226400-16228800	Active TSS	Primary T cells fromperipheralblood	blood
23	chr4:16226400-16228800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:16226400-16228800	Active TSS	Fetal Thymus	thymus
25	chr4:16226400-16228800	Active TSS	Thymus	Thymus
26	chr4:16226400-16229000	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr4:16226400-16229200	Active TSS	Fetal Stomach	stomach
28	chr4:16226400-16229400	Active TSS	Aorta	Aorta
29	chr4:16226400-16229400	Active TSS	HepG2	liver
30	chr4:16226400-16229600	Active TSS	Left Ventricle	heart
31	chr4:16226400-16229600	Active TSS	Psoas Muscle	Psoas
32	chr4:16226400-16229800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:16226400-16229800	Active TSS	Right Ventricle	heart
34	chr4:16226400-16229800	Active TSS	Stomach Smooth Muscle	stomach
35	chr4:16226400-16230600	Active TSS	GM12878-XiMat	blood
36	chr4:16226600-16228600	Active TSS	Fetal Muscle Leg	muscle
37	chr4:16226600-16228800	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr4:16226600-16228800	Active TSS	NH-A	brain
39	chr4:16226600-16229000	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr4:16226600-16229200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:16226600-16229200	Active TSS	Fetal Intestine Small	intestine
42	chr4:16226600-16229400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:16226600-16229400	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr4:16226600-16229400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:16226600-16229400	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr4:16226600-16229600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:16226600-16229600	Active TSS	HMEC	breast
48	chr4:16226600-16229800	Active TSS	H1 Cell Line	embryonic stem cell
49	chr4:16226600-16229800	Active TSS	NHDF-Ad	bronchial
50	chr4:16226600-16230000	Active TSS	Pancreatic Islets	Pancreatic Islet

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