Variant report

Variant	rs144833421
Chromosome Location	chr5:95296229-95296230
allele	-/TG
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	BHLHE40	chr5:95296036-95296489	K562	blood:	n/a	n/a
2	MXI1	chr5:95295550-95298162	HepG2	liver:	n/a	n/a
3	RAD21	chr5:95295552-95298217	IMR90	lung:	n/a	chr5:95296846-95296859 chr5:95297062-95297075 chr5:95296847-95296861 chr5:95297059-95297078
4	ZKSCAN1	chr5:95295855-95297313	Hela-S3	cervix:	n/a	chr5:95297097-95297110
5	POLR2A	chr5:95294827-95298308	GM12892	blood:	n/a	n/a
6	RELA	chr5:95294993-95298352	GM12891	blood:	n/a	chr5:95297005-95297014 chr5:95297005-95297014
7	POLR2A	chr5:95294649-95297075	HepG2	liver:	n/a	n/a
8	CHD1	chr5:95295706-95298302	GM12878	blood:	n/a	chr5:95296574-95296584
9	PML	chr5:95295247-95298289	GM12878	blood:	n/a	chr5:95296249-95296257
10	POLR2A	chr5:95294744-95298231	GM12891	blood:	n/a	n/a
11	POLR2A	chr5:95294626-95298807	GM12892	blood:	n/a	n/a
12	POLR2A	chr5:95294626-95298519	GM12892	blood:	n/a	n/a
13	POLR2A	chr5:95295651-95298283	GM18951	blood:	n/a	n/a
14	USF2	chr5:95296098-95296554	H1-hESC	embryonic stem cell:	n/a	n/a
15	ELF1	chr5:95296188-95298180	GM12878	blood:	n/a	chr5:95297194-95297206
16	POLR2A	chr5:95293827-95297878	ProgFib	skin:	n/a	n/a
17	POLR2A	chr5:95294579-95298340	GM12878	blood:	n/a	n/a
18	POLR2A	chr5:95293418-95298067	Hela-S3	cervix:	n/a	n/a
19	SMC3	chr5:95295595-95297958	Hela-S3	cervix:	n/a	chr5:95297064-95297074 chr5:95297060-95297074
20	POLR2A	chr5:95293281-95298477	GM12891	blood:	n/a	n/a
21	POLR2A	chr5:95295376-95298425	GM15510	blood:	n/a	n/a
22	REST	chr5:95296176-95297772	H1-neurons	neurons:	n/a	chr5:95297026-95297039 chr5:95297107-95297120 chr5:95297650-95297670 chr5:95297203-95297213
23	POLR2A	chr5:95293681-95298523	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr5:95294788-95297231	A549	lung:	n/a	n/a
25	USF2	chr5:95296157-95296472	GM12878	blood:	n/a	n/a
26	POLR2A	chr5:95295938-95297669	GM12878	blood:	n/a	n/a
27	SMARCB1	chr5:95295610-95298225	Hela-S3	cervix:	n/a	chr5:95296156-95296165
28	MXI1	chr5:95295981-95297324	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr5:95295377-95296570	U87	brain:	n/a	n/a
30	POLR2A	chr5:95294916-95298224	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr5:95295362-95297695	GM12891	blood:	n/a	n/a
32	MAZ	chr5:95296168-95298692	K562	blood:	n/a	n/a
33	CTCF	chr5:95295316-95297628	SK-N-SH	brain:	n/a	chr5:95297058-95297076 chr5:95297061-95297070 chr5:95297061-95297074
34	POLR2A	chr5:95294709-95297866	Hela-S3	cervix:	n/a	n/a
35	BRCA1	chr5:95295949-95296668	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr5:95294702-95296246	HepG2	liver:	n/a	n/a
37	WRNIP1	chr5:95293706-95297115	GM12878	blood:	n/a	n/a
38	E2F6	chr5:95295639-95297483	K562	blood:	n/a	chr5:95297196-95297206 chr5:95297056-95297065
39	MAX	chr5:95294946-95297886	Hela-S3	cervix:	n/a	n/a
40	MTA3	chr5:95295399-95296284	GM12878	blood:	n/a	n/a
41	POLR2A	chr5:95293433-95298625	PBDE	blood:	n/a	n/a
42	POLR2A	chr5:95294723-95298270	GM19193	blood:	n/a	n/a
43	POLR2A	chr5:95294699-95298270	GM18505	blood:	n/a	n/a
44	JUN	chr5:95295904-95298463	K562	blood:	n/a	chr5:95297782-95297795 chr5:95297783-95297792 chr5:95297631-95297640
45	CTCF	chr5:95296100-95296250	HRPEpiC	eye:	n/a	n/a
46	CHD1	chr5:95290276-95298838	IMR90	lung:	n/a	chr5:95296574-95296584
47	POLR2A	chr5:95294691-95297737	GM12891	blood:	n/a	n/a
48	MAZ	chr5:95293514-95298307	IMR90	lung:	n/a	chr5:95294294-95294303
49	POLR2A	chr5:95293758-95298353	HepG2	liver:	n/a	n/a
50	POLR2A	chr5:95294024-95297881	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:95294090..95296695-chr5:95356956..95358736,2	K562	blood:
2	chr5:94979878..94983810-chr5:95295717..95298674,4	K562	blood:
3	chr5:95296142..95297757-chr5:95548308..95551059,2	MCF-7	breast:
4	chr5:95268201..95271259-chr5:95293634..95296677,4	K562	blood:
5	chr5:95294561..95296390-chr5:95300649..95302787,2	MCF-7	breast:
6	chr5:95265302..95267698-chr5:95294461..95296344,2	K562	blood:
7	chr5:95294835..95302887-chr5:95306601..95313873,11	K562	blood:
8	chr5:95295795..95298001-chr5:95305862..95309802,3	MCF-7	breast:
9	chr5:95284805..95286720-chr5:95295035..95296550,2	MCF-7	breast:
10	chr5:95195786..95198605-chr5:95296132..95297926,2	MCF-7	breast:
11	chr5:94981287..94984175-chr5:95296229..95298674,3	K562	blood:

Variant related genes	Relation type
ENSG00000251314	TF binding region
ENSG00000249746	Chromatin interaction
ENSG00000175449	Chromatin interaction
ENSG00000250362	Chromatin interaction
ENSG00000213716	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	esv3388808	chr5:95296221-95299069	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	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	chr5:95290600-95296800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
2	chr5:95293000-95296600	Transcr. at gene 5' and 3'	NHEK	skin
3	chr5:95293800-95296600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:95293800-95296800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:95293800-95296800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
6	chr5:95293800-95297800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr5:95294000-95297400	Bivalent/Poised TSS	HepG2	liver
8	chr5:95294000-95298000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:95294000-95298000	Active TSS	Rectal Smooth Muscle	rectum
10	chr5:95294400-95297800	Active TSS	HSMMtube	muscle
11	chr5:95294400-95298600	Active TSS	Aorta	Aorta
12	chr5:95294600-95296400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:95294600-95298000	Active TSS	Brain Angular Gyrus	brain
14	chr5:95294600-95298200	Active TSS	Fetal Intestine Large	intestine
15	chr5:95294600-95298200	Active TSS	GM12878-XiMat	blood
16	chr5:95294600-95298400	Active TSS	Brain Substantia Nigra	brain
17	chr5:95294800-95296400	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr5:95294800-95296400	Flanking Active TSS	Fetal Brain Male	brain
19	chr5:95294800-95296400	Flanking Active TSS	K562	blood
20	chr5:95294800-95296600	Flanking Active TSS	Fetal Thymus	thymus
21	chr5:95294800-95297000	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet
22	chr5:95294800-95297000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr5:95295000-95296400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr5:95295000-95298000	Active TSS	Gastric	stomach
25	chr5:95295000-95298400	Active TSS	Colonic Mucosa	Colon
26	chr5:95295000-95298600	Active TSS	Brain Hippocampus Middle	brain
27	chr5:95295200-95296400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
28	chr5:95295200-95296400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
29	chr5:95295200-95296400	Flanking Active TSS	Fetal Lung	lung
30	chr5:95295200-95298200	Active TSS	Small Intestine	intestine
31	chr5:95295400-95296400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:95295400-95296400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
33	chr5:95295400-95296600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:95295400-95297000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr5:95295400-95298200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:95295400-95298200	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr5:95295400-95298200	Active TSS	Brain Anterior Caudate	brain
38	chr5:95295400-95298400	Active TSS	Pancreas	Pancrea
39	chr5:95295400-95298600	Active TSS	Right Ventricle	heart
40	chr5:95295600-95296400	Bivalent/Poised TSS	Fetal Kidney	kidney
41	chr5:95295600-95296600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr5:95295600-95296800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:95295600-95297200	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr5:95295600-95297800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:95295600-95297800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:95295600-95297800	Active TSS	Hela-S3	cervix
47	chr5:95295600-95298000	Active TSS	Liver	Liver
48	chr5:95295600-95298000	Active TSS	Fetal Heart	heart
49	chr5:95295600-95298200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:95295600-95298200	Active TSS	Lung	lung

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