Variant report

Variant	rs373873313
Chromosome Location	chr5:178054225-178054226
allele	-/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	ZNF384	chr5:178052770-178054463	K562	blood:	n/a	n/a
2	E2F6	chr5:178053942-178054425	K562	blood:	n/a	chr5:178053976-178053993 chr5:178054101-178054110 chr5:178054309-178054324 chr5:178053979-178053990 chr5:178054313-178054325 chr5:178053996-178054007
3	POLR2A	chr5:178053049-178054494	GM19099	blood:	n/a	n/a
4	SMC3	chr5:178053135-178054427	Hela-S3	cervix:	n/a	chr5:178053454-178053464
5	POLR2A	chr5:178053171-178054584	Hela-S3	cervix:	n/a	n/a
6	BHLHE40	chr5:178052939-178054553	GM12878	blood:	n/a	chr5:178054543-178054552 chr5:178053688-178053704 chr5:178054544-178054553 chr5:178054544-178054553
7	MYC	chr5:178052572-178054553	K562	blood:	n/a	chr5:178054227-178054237 chr5:178054223-178054233 chr5:178054544-178054553 chr5:178054333-178054340
8	CEBPD	chr5:178053927-178054241	HepG2	liver:	n/a	n/a
9	HEY1	chr5:178053819-178054289	HepG2	liver:	n/a	n/a
10	POLR2A	chr5:178053380-178054426	GM10847	blood:	n/a	n/a
11	POLR2A	chr5:178053190-178054319	K562	blood:	n/a	n/a
12	USF1	chr5:178053909-178054316	A549	lung:	n/a	n/a
13	POLR2A	chr5:178053108-178054454	K562	blood:	n/a	n/a
14	TBL1XR1	chr5:178053274-178054539	GM12878	blood:	n/a	n/a
15	USF1	chr5:178053861-178054695	ECC-1	luminal epithelium:	n/a	chr5:178054543-178054552 chr5:178054544-178054553 chr5:178054538-178054559 chr5:178054544-178054553
16	POLR2A	chr5:178052968-178054585	H1-neurons	neurons:	n/a	n/a
17	CBX3	chr5:178053388-178054227	K562	blood:	n/a	n/a
18	POLR2A	chr5:178053265-178054482	ECC-1	luminal epithelium:	n/a	n/a
19	TAF1	chr5:178053349-178054328	ECC-1	luminal epithelium:	n/a	n/a
20	SIN3AK20	chr5:178053265-178054273	H1-hESC	embryonic stem cell:	n/a	n/a
21	CREB1	chr5:178053316-178054434	HepG2	liver:	n/a	n/a
22	NRF1	chr5:178053954-178054662	H1-hESC	embryonic stem cell:	n/a	chr5:178054189-178054203 chr5:178054228-178054237 chr5:178054099-178054110
23	POLR2A	chr5:178052757-178054569	GM12878	blood:	n/a	n/a
24	EGR1	chr5:178053889-178054374	K562	blood:	n/a	chr5:178054228-178054238 chr5:178054215-178054228 chr5:178054341-178054354 chr5:178054224-178054234 chr5:178054228-178054243 chr5:178054220-178054230 chr5:178054078-178054092 chr5:178054221-178054231 chr5:178054101-178054110 chr5:178054219-178054229
25	POLR2A	chr5:178053394-178054441	MCF-7	breast:	n/a	n/a
26	CEBPB	chr5:178053918-178054322	HepG2	liver:	n/a	n/a
27	POLR2A	chr5:178052765-178054366	GM12878	blood:	n/a	n/a
28	SP1	chr5:178053205-178054248	A549	lung:	n/a	chr5:178054145-178054154 chr5:178054143-178054155 chr5:178054218-178054227 chr5:178054226-178054238 chr5:178053444-178053458 chr5:178054228-178054237 chr5:178054226-178054238 chr5:178054227-178054237 chr5:178054143-178054155 chr5:178054227-178054236
29	HCFC1	chr5:178053469-178054626	K562	blood:	n/a	n/a
30	USF2	chr5:178053918-178054677	Hela-S3	cervix:	n/a	chr5:178054543-178054552 chr5:178054544-178054553 chr5:178054538-178054559 chr5:178054544-178054553
31	POLR2A	chr5:178053623-178054388	HCT-116	colon:	n/a	n/a
32	CEBPB	chr5:178053061-178054351	HepG2	liver:	n/a	n/a
33	STAT3	chr5:178053277-178054480	MCF10A-Er-Src	breast:	n/a	chr5:178054223-178054235 chr5:178054217-178054229 chr5:178054219-178054231
34	TEAD4	chr5:178052664-178054262	K562	blood:	n/a	n/a
35	SIN3AK20	chr5:178052863-178054455	MCF-7	breast:	n/a	n/a
36	POLR2A	chr5:178053501-178054527	HCT-116	colon:	n/a	n/a
37	UBTF	chr5:178053059-178054461	K562	blood:	n/a	n/a
38	ZNF143	chr5:178053433-178054706	K562	blood:	n/a	n/a
39	FOXA1	chr5:178053834-178054367	T-47D	breast:	n/a	n/a
40	CEBPD	chr5:178053782-178054292	K562	blood:	n/a	n/a
41	SP1	chr5:178053302-178054229	A549	lung:	n/a	chr5:178054145-178054154 chr5:178054143-178054155 chr5:178054218-178054227 chr5:178053444-178053458 chr5:178054143-178054155
42	USF1	chr5:178053972-178054322	K562	blood:	n/a	n/a
43	MYC	chr5:178053969-178054687	H1-hESC	embryonic stem cell:	n/a	chr5:178054227-178054237 chr5:178054223-178054233 chr5:178054543-178054554 chr5:178054544-178054553 chr5:178054543-178054554 chr5:178054333-178054340
44	MAX	chr5:178053432-178054657	HUVEC	blood vessel:	n/a	chr5:178054227-178054237 chr5:178054223-178054233 chr5:178054543-178054554 chr5:178054544-178054553 chr5:178054543-178054554 chr5:178054333-178054340
45	BHLHE40	chr5:178052960-178054712	K562	blood:	n/a	chr5:178054543-178054552 chr5:178053688-178053704 chr5:178054544-178054553 chr5:178054538-178054559 chr5:178054544-178054553
46	POLR2A	chr5:178053044-178054582	Raji	blood:	n/a	n/a
47	TAF1	chr5:178053495-178054225	HepG2	liver:	n/a	n/a
48	TAF1	chr5:178053332-178054440	ECC-1	luminal epithelium:	n/a	n/a
49	TBP	chr5:178052641-178054228	GM12878	blood:	n/a	n/a
50	USF1	chr5:178053959-178054309	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:178052822..178055819-chr5:178156143..178158096,2	MCF-7	breast:
2	chr5:178052987..178056050-chr5:178056072..178058258,3	MCF-7	breast:
3	chr12:7052986..7053545-chr5:178053747..178054708,2	Hela-S3	cervix:
4	chr20:61568975..61569508-chr5:178053895..178054637,2	Hela-S3	cervix:
5	chr5:178053026..178055082-chr6:26156240..26159025,2	MCF-7	breast:
6	chr19:16770750..16771264-chr5:178053613..178054437,2	HCT-116	colon:
7	chr5:178054153..178056905-chr5:178057584..178060537,3	K562	blood:
8	chr5:178053391..178055177-chr5:178285758..178288394,2	MCF-7	breast:

Variant related genes	Relation type
CLK4	TF binding region
ENSG00000214046	Chromatin interaction
ENSG00000178338	Chromatin interaction
ENSG00000113240	Chromatin interaction
ENSG00000169131	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000101193	Chromatin interaction
ENSG00000268790	Chromatin interaction
ENSG00000101191	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000168298	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	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1031666	chr5:177988601-178236068	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv3342261	chr5:178053396-178055344	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 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	chr5:178051000-178054400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:178051000-178054600	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr5:178051200-178054600	Active TSS	Aorta	Aorta
4	chr5:178051400-178054400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:178051600-178054400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:178051600-178054600	Active TSS	NHDF-Ad	bronchial
7	chr5:178051600-178054600	Active TSS	NHLF	lung
8	chr5:178051800-178054600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:178051800-178054600	Active TSS	HSMM	muscle
10	chr5:178051800-178054800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:178052000-178054400	Active TSS	Fetal Intestine Large	intestine
12	chr5:178052000-178054400	Active TSS	Lung	lung
13	chr5:178052000-178054600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr5:178052000-178054600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:178052000-178054600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:178052000-178054600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:178052000-178054600	Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr5:178052000-178054800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:178052000-178054800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:178052000-178054800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:178052200-178054400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:178052200-178054400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:178052200-178054400	Active TSS	HMEC	breast
24	chr5:178052200-178054600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:178052200-178054600	Active TSS	H9 Cell Line	embryonic stem cell
26	chr5:178052200-178054600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:178052200-178054600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:178052200-178054600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:178052200-178054600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr5:178052200-178054600	Active TSS	Esophagus	oesophagus
31	chr5:178052200-178054600	Active TSS	Fetal Heart	heart
32	chr5:178052200-178054600	Active TSS	Fetal Intestine Small	intestine
33	chr5:178052200-178054600	Active TSS	Fetal Kidney	kidney
34	chr5:178052200-178054800	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr5:178052200-178054800	Active TSS	Muscle Satellite Cultured Cells	--
36	chr5:178052200-178054800	Active TSS	Brain Anterior Caudate	brain
37	chr5:178052200-178054800	Active TSS	Colonic Mucosa	Colon
38	chr5:178052200-178054800	Active TSS	Colon Smooth Muscle	Colon
39	chr5:178052200-178054800	Active TSS	Fetal Brain Female	brain
40	chr5:178052200-178054800	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr5:178052200-178054800	Active TSS	NH-A	brain
42	chr5:178052200-178054800	Active TSS	NHEK	skin
43	chr5:178052200-178054800	Active TSS	Osteobl	bone
44	chr5:178052400-178054400	Active TSS	Primary T cells fromperipheralblood	blood
45	chr5:178052400-178054400	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr5:178052400-178054400	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr5:178052400-178054400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr5:178052400-178054400	Active TSS	Fetal Muscle Trunk	muscle
49	chr5:178052400-178054400	Active TSS	Fetal Muscle Leg	muscle
50	chr5:178052400-178054400	Active TSS	Placenta	Placenta

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