Variant report

Variant	rs143388045
Chromosome Location	chr5:98263299-98263300
allele	A/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	MAX	chr5:98262852-98263323	GM12878	blood:	n/a	n/a
2	MTA3	chr5:98262831-98263840	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:98263028-98265628	Raji	blood:	n/a	n/a
4	MAZ	chr5:98262858-98265677	K562	blood:	n/a	chr5:98263904-98263911 chr5:98264544-98264554 chr5:98263903-98263912 chr5:98264754-98264764 chr5:98263849-98263859 chr5:98263901-98263916
5	MXI1	chr5:98262891-98265927	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:98262735-98265849	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr5:98262939-98265984	GM19193	blood:	n/a	n/a
8	GABPA	chr5:98262803-98263317	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr5:98262882-98265836	GM12891	blood:	n/a	n/a
10	POLR2A	chr5:98262425-98264148	A549	lung:	n/a	n/a
11	POLR2A	chr5:98262881-98266666	HepG2	liver:	n/a	n/a
12	POLR2A	chr5:98262884-98263828	GM12891	blood:	n/a	n/a
13	POLR2A	chr5:98262834-98263841	GM12878	blood:	n/a	n/a
14	GTF2F1	chr5:98262931-98263607	Hela-S3	cervix:	n/a	n/a
15	MAX	chr5:98262962-98265658	NB4	blood:	n/a	chr5:98263904-98263911 chr5:98264544-98264554 chr5:98263903-98263912 chr5:98264754-98264764 chr5:98263849-98263859 chr5:98263901-98263916
16	CCNT2	chr5:98262973-98263386	K562	blood:	n/a	n/a
17	POLR2A	chr5:98262980-98263313	ProgFib	skin:	n/a	n/a
18	POLR2A	chr5:98262788-98263318	H1-neurons	neurons:	n/a	n/a
19	CUX1	chr5:98262820-98263496	GM12878	blood:	n/a	n/a
20	CREB1	chr5:98262886-98263332	GM12878	blood:	n/a	n/a
21	MYC	chr5:98262962-98265649	NB4	blood:	n/a	chr5:98263904-98263911 chr5:98264544-98264554 chr5:98263903-98263912 chr5:98264754-98264764 chr5:98263849-98263859 chr5:98263901-98263916
22	POLR2A	chr5:98262802-98266065	GM12878	blood:	n/a	n/a
23	POLR2A	chr5:98262863-98266842	GM12878	blood:	n/a	n/a
24	POLR2A	chr5:98262881-98266708	GM12878	blood:	n/a	n/a
25	POLR2A	chr5:98262788-98265865	GM12892	blood:	n/a	n/a
26	POLR2A	chr5:98262824-98265848	GM12892	blood:	n/a	n/a
27	GABPA	chr5:98262667-98263500	MCF-7	breast:	n/a	n/a
28	POLR2A	chr5:98262736-98267954	MCF10A-Er-Src	breast:	n/a	n/a
29	RCOR1	chr5:98262909-98265682	K562	blood:	n/a	n/a
30	POLR2A	chr5:98262899-98263389	HUVEC	blood vessel:	n/a	n/a
31	HEY1	chr5:98262879-98263349	K562	blood:	n/a	n/a
32	IRF1	chr5:98262843-98263461	K562	blood:	n/a	n/a
33	POLR2A	chr5:98261911-98271717	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr5:98262744-98270017	GM12891	blood:	n/a	n/a
35	STAT5A	chr5:98262861-98263748	GM12878	blood:	n/a	chr5:98263044-98263056 chr5:98263164-98263171 chr5:98263370-98263381
36	POLR2A	chr5:98262705-98266805	PBDE	blood:	n/a	n/a
37	ATF2	chr5:98262812-98263803	GM12878	blood:	n/a	chr5:98262913-98262920
38	POLR2A	chr5:98262866-98263864	GM12892	blood:	n/a	n/a
39	POLR2A	chr5:98262041-98266821	IMR90	lung:	n/a	n/a
40	UBTF	chr5:98262938-98265596	K562	blood:	n/a	n/a
41	POLR2A	chr5:98262871-98263390	U87	brain:	n/a	n/a
42	POLR2A	chr5:98262821-98264060	U87	brain:	n/a	n/a
43	POLR2A	chr5:98262918-98263848	GM12891	blood:	n/a	n/a
44	POLR2A	chr5:98262950-98265882	Hela-S3	cervix:	n/a	n/a
45	RELA	chr5:98262918-98263791	GM12891	blood:	n/a	n/a
46	TAF1	chr5:98262915-98263344	PFSK-1	brain:	n/a	n/a
47	CHD2	chr5:98262960-98265678	GM12878	blood:	n/a	chr5:98263846-98263856 chr5:98264811-98264821 chr5:98264740-98264750
48	MAZ	chr5:98262674-98263567	GM12878	blood:	n/a	n/a
49	RFX5	chr5:98262961-98263710	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr5:98262906-98266708	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:98262437..98267686-chr5:98287585..98292205,9	K562	blood:
2	chr5:98263162..98264704-chr5:98365544..98368385,2	K562	blood:
3	chr5:98220770..98224200-chr5:98262773..98266161,4	K562	blood:
4	chr5:90674940..90679357-chr5:98262514..98267275,7	K562	blood:
5	chr5:98262538..98264376-chr5:98385068..98386574,2	K562	blood:
6	chr5:98261995..98270397-chr5:98280624..98292060,15	K562	blood:
7	chr5:98220809..98224769-chr5:98261722..98266325,5	K562	blood:
8	chr5:98261788..98268544-chr5:98272174..98280784,17	MCF-7	breast:
9	chr5:98237133..98240076-chr5:98262664..98264455,2	K562	blood:

Variant related genes	Relation type
ENSG00000248489	TF binding region
CHD1	TF binding region
ENSG00000153922	Chromatin interaction
ENSG00000241597	Chromatin interaction
ENSG00000113369	Chromatin interaction
ENSG00000200351	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882415	chr5:98134186-98312447	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv882416	chr5:98146106-98312447	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv537818	chr5:98241627-98279192	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv537819	chr5:98253348-98299646	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv3405878	chr5:98263077-98265925	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	esv3346760	chr5:98263202-98265950	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98260000-98263600	Weak transcription	Spleen	Spleen
2	chr5:98261200-98266000	Active TSS	Thymus	Thymus
3	chr5:98261600-98265800	Active TSS	GM12878-XiMat	blood
4	chr5:98261600-98266200	Active TSS	Fetal Thymus	thymus
5	chr5:98261800-98266200	Active TSS	K562	blood
6	chr5:98262000-98266000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:98262000-98266000	Active TSS	A549	lung
8	chr5:98262200-98263600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:98262200-98263800	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr5:98262200-98263800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:98262200-98265600	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr5:98262200-98265800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:98262200-98265800	Active TSS	HMEC	breast
14	chr5:98262200-98266000	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr5:98262400-98263400	Flanking Active TSS	HUVEC	blood vessel
16	chr5:98262400-98263600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:98262400-98263600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:98262400-98264600	Active TSS	Right Atrium	heart
19	chr5:98262400-98265800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:98262400-98266000	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr5:98262400-98266000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr5:98262400-98266000	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr5:98262400-98266000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:98262400-98266200	Active TSS	Right Ventricle	heart
25	chr5:98262600-98263400	Flanking Active TSS	Fetal Brain Female	brain
26	chr5:98262600-98263400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr5:98262600-98263400	Flanking Active TSS	Osteobl	bone
28	chr5:98262600-98263600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr5:98262600-98263800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr5:98262600-98263800	Flanking Active TSS	Liver	Liver
31	chr5:98262600-98265000	Active TSS	Brain Germinal Matrix	brain
32	chr5:98262600-98265600	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr5:98262600-98265800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:98262600-98265800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:98262600-98265800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:98262600-98265800	Active TSS	Fetal Intestine Small	intestine
37	chr5:98262600-98266000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:98262600-98266000	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr5:98262600-98266000	Active TSS	Colon Smooth Muscle	Colon
40	chr5:98262600-98266000	Active TSS	Fetal Intestine Large	intestine
41	chr5:98262600-98266000	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr5:98262600-98266000	Active TSS	HSMM	muscle
43	chr5:98262600-98266200	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr5:98262600-98266200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:98262600-98266200	Active TSS	NHLF	lung
46	chr5:98262600-98266400	Active TSS	Psoas Muscle	Psoas
47	chr5:98262600-98266600	Active TSS	Stomach Smooth Muscle	stomach
48	chr5:98262600-98266800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:98262800-98263400	Active TSS	Primary T cells fromperipheralblood	blood
50	chr5:98262800-98263400	Flanking Active TSS	Brain Hippocampus Middle	brain

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