Variant report

Variant	rs145647832
Chromosome Location	chr5:98263113-98263114
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	TAF1	chr5:98262890-98263217	K562	blood:	n/a	n/a
5	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
6	MXI1	chr5:98262891-98265927	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:98262735-98265849	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr5:98262939-98265984	GM19193	blood:	n/a	n/a
9	MXI1	chr5:98262949-98263263	Hela-S3	cervix:	n/a	n/a
10	STAT1	chr5:98262871-98263264	GM12878	blood:	n/a	chr5:98263044-98263056 chr5:98263164-98263171
11	GABPA	chr5:98262803-98263317	SK-N-SH	brain:	n/a	n/a
12	TAF1	chr5:98262970-98263228	GM12878	blood:	n/a	n/a
13	POLR2A	chr5:98262882-98265836	GM12891	blood:	n/a	n/a
14	POLR2A	chr5:98262425-98264148	A549	lung:	n/a	n/a
15	POLR2A	chr5:98262881-98266666	HepG2	liver:	n/a	n/a
16	POLR2A	chr5:98262884-98263828	GM12891	blood:	n/a	n/a
17	TAF1	chr5:98262946-98263267	GM12891	blood:	n/a	n/a
18	POLR2A	chr5:98262834-98263841	GM12878	blood:	n/a	n/a
19	GTF2F1	chr5:98262931-98263607	Hela-S3	cervix:	n/a	n/a
20	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
21	CCNT2	chr5:98262973-98263386	K562	blood:	n/a	n/a
22	TAF1	chr5:98262953-98263198	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr5:98262980-98263313	ProgFib	skin:	n/a	n/a
24	POLR2A	chr5:98262788-98263318	H1-neurons	neurons:	n/a	n/a
25	CUX1	chr5:98262820-98263496	GM12878	blood:	n/a	n/a
26	CREB1	chr5:98262886-98263332	GM12878	blood:	n/a	n/a
27	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
28	POLR2A	chr5:98262904-98263290	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr5:98262802-98266065	GM12878	blood:	n/a	n/a
30	POLR2A	chr5:98262863-98266842	GM12878	blood:	n/a	n/a
31	POLR2A	chr5:98262881-98266708	GM12878	blood:	n/a	n/a
32	POLR2A	chr5:98262788-98265865	GM12892	blood:	n/a	n/a
33	NFYB	chr5:98263007-98263218	GM12878	blood:	n/a	n/a
34	EGR1	chr5:98262925-98263158	K562	blood:	n/a	n/a
35	POLR2A	chr5:98262824-98265848	GM12892	blood:	n/a	n/a
36	POU2F2	chr5:98262915-98263204	GM12891	blood:	n/a	chr5:98263036-98263048
37	GABPA	chr5:98262667-98263500	MCF-7	breast:	n/a	n/a
38	POLR2A	chr5:98262736-98267954	MCF10A-Er-Src	breast:	n/a	n/a
39	RCOR1	chr5:98262909-98265682	K562	blood:	n/a	n/a
40	SIN3AK20	chr5:98262916-98263278	SK-N-SH	brain:	n/a	n/a
41	ZNF143	chr5:98262951-98263151	GM12878	blood:	n/a	n/a
42	TAF1	chr5:98262964-98263261	GM12892	blood:	n/a	n/a
43	POLR2A	chr5:98262899-98263389	HUVEC	blood vessel:	n/a	n/a
44	HEY1	chr5:98262879-98263349	K562	blood:	n/a	n/a
45	IRF1	chr5:98262843-98263461	K562	blood:	n/a	n/a
46	POLR2A	chr5:98261911-98271717	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr5:98262744-98270017	GM12891	blood:	n/a	n/a
48	STAT5A	chr5:98262861-98263748	GM12878	blood:	n/a	chr5:98263044-98263056 chr5:98263164-98263171 chr5:98263370-98263381
49	TAF1	chr5:98262957-98263267	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr5:98262705-98266805	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:98262437..98267686-chr5:98287585..98292205,9	K562	blood:
2	chr5:98220770..98224200-chr5:98262773..98266161,4	K562	blood:
3	chr5:90674940..90679357-chr5:98262514..98267275,7	K562	blood:
4	chr5:98262538..98264376-chr5:98385068..98386574,2	K562	blood:
5	chr5:98261995..98270397-chr5:98280624..98292060,15	K562	blood:
6	chr5:98220809..98224769-chr5:98261722..98266325,5	K562	blood:
7	chr5:98261788..98268544-chr5:98272174..98280784,17	MCF-7	breast:
8	chr5:98237133..98240076-chr5:98262664..98264455,2	K562	blood:
9	chr14:81687040..81687872-chr5:98262679..98263179,2	Hela-S3	cervix:

Variant related genes	Relation type
CHD1	TF binding region
ENSG00000248489	TF binding region
ENSG00000200351	Chromatin interaction
ENSG00000165417	Chromatin interaction
ENSG00000153922	Chromatin interaction
ENSG00000241597	Chromatin interaction
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98236400-98263200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:98240200-98263200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:98260000-98263600	Weak transcription	Spleen	Spleen
4	chr5:98261200-98266000	Active TSS	Thymus	Thymus
5	chr5:98261600-98265800	Active TSS	GM12878-XiMat	blood
6	chr5:98261600-98266200	Active TSS	Fetal Thymus	thymus
7	chr5:98261800-98266200	Active TSS	K562	blood
8	chr5:98262000-98263200	Flanking Active TSS	Dnd41	blood
9	chr5:98262000-98266000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:98262000-98266000	Active TSS	A549	lung
11	chr5:98262200-98263200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:98262200-98263200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr5:98262200-98263200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr5:98262200-98263600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:98262200-98263800	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr5:98262200-98263800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:98262200-98265600	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr5:98262200-98265800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:98262200-98265800	Active TSS	HMEC	breast
20	chr5:98262200-98266000	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr5:98262400-98263400	Flanking Active TSS	HUVEC	blood vessel
22	chr5:98262400-98263600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:98262400-98263600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:98262400-98264600	Active TSS	Right Atrium	heart
25	chr5:98262400-98265800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:98262400-98266000	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr5:98262400-98266000	Active TSS	H1 Cell Line	embryonic stem cell
28	chr5:98262400-98266000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr5:98262400-98266000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:98262400-98266200	Active TSS	Right Ventricle	heart
31	chr5:98262600-98263200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr5:98262600-98263400	Flanking Active TSS	Fetal Brain Female	brain
33	chr5:98262600-98263400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr5:98262600-98263400	Flanking Active TSS	Osteobl	bone
35	chr5:98262600-98263600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr5:98262600-98263800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr5:98262600-98263800	Flanking Active TSS	Liver	Liver
38	chr5:98262600-98265000	Active TSS	Brain Germinal Matrix	brain
39	chr5:98262600-98265600	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr5:98262600-98265800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:98262600-98265800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:98262600-98265800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:98262600-98265800	Active TSS	Fetal Intestine Small	intestine
44	chr5:98262600-98266000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:98262600-98266000	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr5:98262600-98266000	Active TSS	Colon Smooth Muscle	Colon
47	chr5:98262600-98266000	Active TSS	Fetal Intestine Large	intestine
48	chr5:98262600-98266000	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr5:98262600-98266000	Active TSS	HSMM	muscle
50	chr5:98262600-98266200	Active TSS	HUES6 Cell Line	embryonic stem cell

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