Variant report

Variant	rs75018733
Chromosome Location	chr4:174089072-174089073
allele	G/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	IRF1	chr4:174088957-174090113	K562	blood:	n/a	chr4:174089103-174089110 chr4:174089370-174089379 chr4:174089416-174089425 chr4:174089607-174089619 chr4:174089096-174089110
2	POLR2A	chr4:174088947-174090256	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr4:174089003-174090139	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr4:174088965-174091465	HL-60	blood:	n/a	n/a
5	EBF1	chr4:174089004-174089718	GM12878	blood:	n/a	n/a
6	MAZ	chr4:174088930-174091911	IMR90	lung:	n/a	chr4:174089336-174089346 chr4:174091392-174091402
7	POLR2A	chr4:174088782-174094458	PANC-1	pancreas:	n/a	n/a
8	MAZ	chr4:174089005-174091630	K562	blood:	n/a	chr4:174089336-174089346 chr4:174091392-174091402
9	EP300	chr4:174088907-174089476	GM12878	blood:	n/a	chr4:174089301-174089315
10	TBP	chr4:174089052-174090220	K562	blood:	n/a	n/a
11	REST	chr4:174088970-174091683	H1-neurons	neurons:	n/a	chr4:174089347-174089365 chr4:174089565-174089573
12	POLR2A	chr4:174089067-174091578	GM19099	blood:	n/a	n/a
13	POLR2A	chr4:174089018-174091441	K562	blood:	n/a	n/a
14	RELA	chr4:174089051-174091620	GM12891	blood:	n/a	n/a
15	CHD2	chr4:174089048-174090124	K562	blood:	n/a	n/a
16	MAX	chr4:174088996-174089707	MCF-7	breast:	n/a	chr4:174089336-174089346
17	TCF12	chr4:174089013-174090407	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr4:174088863-174091516	GM18526	blood:	n/a	n/a
19	ELF1	chr4:174089042-174091391	GM12878	blood:	n/a	chr4:174091210-174091222 chr4:174091234-174091243 chr4:174089372-174089383
20	NFIC	chr4:174088972-174089929	GM12878	blood:	n/a	n/a
21	POLR2A	chr4:174088971-174091378	K562	blood:	n/a	n/a
22	MYC	chr4:174089012-174089981	K562	blood:	n/a	chr4:174089336-174089346
23	MAX	chr4:174088927-174091694	Hela-S3	cervix:	n/a	chr4:174089336-174089346 chr4:174091392-174091402
24	MYC	chr4:174089026-174089960	H1-hESC	embryonic stem cell:	n/a	chr4:174089336-174089346
25	EP300	chr4:174089059-174090191	ECC-1	luminal epithelium:	n/a	chr4:174089301-174089315 chr4:174089470-174089479
26	TEAD4	chr4:174088863-174090008	K562	blood:	n/a	n/a
27	SMC3	chr4:174088897-174089823	GM12878	blood:	n/a	n/a
28	MYC	chr4:174088892-174090213	K562	blood:	n/a	chr4:174089336-174089346
29	FOXA1	chr4:174089009-174089226	T-47D	breast:	n/a	n/a
30	TCF12	chr4:174088969-174089979	A549	lung:	n/a	n/a
31	POLR2A	chr4:174089029-174091518	GM15510	blood:	n/a	n/a
32	POLR2A	chr4:174088949-174089879	GM12891	blood:	n/a	n/a
33	POLR2A	chr4:174089043-174089223	Hela-S3	cervix:	n/a	n/a
34	ZNF384	chr4:174088741-174089538	GM12878	blood:	n/a	n/a
35	MAX	chr4:174088919-174090283	NB4	blood:	n/a	chr4:174089336-174089346
36	POLR2A	chr4:174089047-174089451	H1-neurons	neurons:	n/a	n/a
37	MYC	chr4:174088917-174091408	K562	blood:	n/a	chr4:174089336-174089346 chr4:174091392-174091402
38	ZBTB7A	chr4:174088940-174091571	ECC-1	luminal epithelium:	n/a	n/a
39	RUNX3	chr4:174088931-174090259	GM12878	blood:	n/a	n/a
40	ARID3A	chr4:174088980-174089588	K562	blood:	n/a	n/a
41	UBTF	chr4:174089026-174091524	K562	blood:	n/a	n/a
42	TBP	chr4:174089054-174090147	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr4:174088927-174091471	GM12878	blood:	n/a	n/a
44	POLR2A	chr4:174088995-174091552	GM12892	blood:	n/a	n/a
45	POLR2A	chr4:174088995-174091577	Raji	blood:	n/a	n/a
46	RELA	chr4:174088993-174091622	GM18951	blood:	n/a	n/a
47	TCF12	chr4:174089062-174089896	ECC-1	luminal epithelium:	n/a	n/a
48	MAX	chr4:174089064-174090878	SK-N-SH	brain:	n/a	chr4:174089336-174089346
49	MAX	chr4:174088888-174090403	A549	lung:	n/a	chr4:174089336-174089346
50	MXI1	chr4:174088877-174091784	IMR90	lung:	n/a	chr4:174089336-174089345

No.	Distal block	Cell Line	Cell type
1	chr4:174087023..174089565-chr4:174159233..174161373,2	MCF-7	breast:
2	chr4:174080088..174082274-chr4:174088293..174089862,2	MCF-7	breast:
3	chr4:174087322..174089631-chr4:174102847..174104512,2	K562	blood:
4	chr4:174088355..174091772-chr4:174254077..174258410,8	K562	blood:
5	chr4:174072381..174074317-chr4:174086673..174089260,2	K562	blood:
6	chr1:65719996..65720543-chr4:174088718..174089605,2	Hela-S3	cervix:
7	chr4:174088713..174091772-chr4:174254390..174258410,4	K562	blood:
8	chr4:174084331..174086204-chr4:174086936..174089803,3	MCF-7	breast:

Variant related genes	Relation type
GALNT7	TF binding region
ENSG00000116675	Chromatin interaction
ENSG00000164104	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3357841	chr4:174088902-174091750	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv3403467	chr4:174088977-174092225	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv1798285	chr4:174089048-174091110	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv1798967	chr4:174089048-174091110	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1799224	chr4:174089048-174091110	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1804824	chr4:174089048-174091110	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv1810173	chr4:174089048-174091110	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv1834006	chr4:174089048-174091110	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv1841737	chr4:174089048-174091110	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv1845734	chr4:174089048-174091110	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174073600-174089200	Weak transcription	Aorta	Aorta
2	chr4:174088400-174091400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr4:174088400-174091600	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr4:174088400-174091600	Active TSS	A549	lung
5	chr4:174088400-174092200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr4:174088600-174089400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr4:174088600-174089800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:174088600-174091400	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr4:174088600-174092000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr4:174088800-174089200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr4:174088800-174089200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr4:174088800-174089200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:174088800-174089200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr4:174088800-174089200	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr4:174088800-174089200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr4:174088800-174089200	Flanking Active TSS	HMEC	breast
17	chr4:174088800-174089200	Flanking Active TSS	K562	blood
18	chr4:174088800-174089400	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr4:174088800-174089400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr4:174088800-174089400	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr4:174088800-174089600	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr4:174088800-174089600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:174088800-174089600	Flanking Active TSS	Fetal Thymus	thymus
24	chr4:174088800-174089600	Flanking Active TSS	Dnd41	blood
25	chr4:174088800-174089600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr4:174088800-174089600	Flanking Active TSS	NHEK	skin
27	chr4:174088800-174089800	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr4:174088800-174089800	Flanking Active TSS	HUVEC	blood vessel
29	chr4:174088800-174090200	Active TSS	Fetal Brain Male	brain
30	chr4:174088800-174091400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:174088800-174091400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:174088800-174091400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:174088800-174091400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:174088800-174091400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:174088800-174091400	Active TSS	Fetal Intestine Small	intestine
36	chr4:174088800-174091400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr4:174088800-174091400	Active TSS	Rectal Smooth Muscle	rectum
38	chr4:174088800-174091600	Active TSS	H1 Cell Line	embryonic stem cell
39	chr4:174088800-174091600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr4:174088800-174091600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:174088800-174091600	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr4:174088800-174091600	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr4:174088800-174091600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:174088800-174091800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:174088800-174091800	Active TSS	Colonic Mucosa	Colon
46	chr4:174088800-174092000	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr4:174088800-174092000	Active TSS	Fetal Kidney	kidney
48	chr4:174088800-174092200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:174088800-174092200	Active TSS	HSMMtube	muscle
50	chr4:174088800-174092400	Active TSS	Thymus	Thymus

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