Variant report

Variant	rs6817013
Chromosome Location	chr4:174091120-174091121
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	NFIC	chr4:174090942-174091795	SK-N-SH	brain:	n/a	n/a
2	ETS1	chr4:174090344-174091177	GM12878	blood:	n/a	chr4:174091054-174091067
3	POLR2A	chr4:174088965-174091465	HL-60	blood:	n/a	n/a
4	HDAC2	chr4:174090928-174091443	MCF-7	breast:	n/a	n/a
5	FOXM1	chr4:174090609-174091443	GM12878	blood:	n/a	n/a
6	MAZ	chr4:174088930-174091911	IMR90	lung:	n/a	chr4:174089336-174089346 chr4:174091392-174091402
7	SPI1	chr4:174090758-174091134	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:174088782-174094458	PANC-1	pancreas:	n/a	n/a
9	MAZ	chr4:174089005-174091630	K562	blood:	n/a	chr4:174089336-174089346 chr4:174091392-174091402
10	SPI1	chr4:174090708-174091154	GM12891	blood:	n/a	n/a
11	REST	chr4:174088970-174091683	H1-neurons	neurons:	n/a	chr4:174089347-174089365 chr4:174089565-174089573
12	E2F6	chr4:174090090-174091123	K562	blood:	n/a	chr4:174091060-174091069
13	CHD2	chr4:174090482-174091501	GM12878	blood:	n/a	chr4:174091257-174091267
14	POLR2A	chr4:174089067-174091578	GM19099	blood:	n/a	n/a
15	POLR2A	chr4:174089018-174091441	K562	blood:	n/a	n/a
16	RELA	chr4:174089051-174091620	GM12891	blood:	n/a	n/a
17	POLR2A	chr4:174088863-174091516	GM18526	blood:	n/a	n/a
18	ELF1	chr4:174089042-174091391	GM12878	blood:	n/a	chr4:174091210-174091222 chr4:174091234-174091243 chr4:174089372-174089383
19	POLR2A	chr4:174089275-174091488	ECC-1	luminal epithelium:	n/a	n/a
20	BCLAF1	chr4:174089970-174091477	GM12878	blood:	n/a	chr4:174091074-174091087 chr4:174091188-174091201 chr4:174091390-174091403 chr4:174091058-174091067 chr4:174091053-174091066 chr4:174091339-174091352 chr4:174091237-174091250
21	POLR2A	chr4:174088971-174091378	K562	blood:	n/a	n/a
22	TAF7	chr4:174090780-174091172	H1-hESC	embryonic stem cell:	n/a	n/a
23	TCF12	chr4:174090468-174091609	ECC-1	luminal epithelium:	n/a	chr4:174091277-174091287 chr4:174091400-174091410
24	TCF7L2	chr4:174090789-174091350	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr4:174090217-174091400	K562	blood:	n/a	n/a
26	MAX	chr4:174088927-174091694	Hela-S3	cervix:	n/a	chr4:174089336-174089346 chr4:174091392-174091402
27	SPI1	chr4:174090706-174091209	HL-60	blood:	n/a	n/a
28	POLR2A	chr4:174091092-174091123	MCF-7	breast:	n/a	n/a
29	POLR2A	chr4:174089029-174091518	GM15510	blood:	n/a	n/a
30	ELF1	chr4:174090836-174091446	K562	blood:	n/a	chr4:174091210-174091222 chr4:174091234-174091243 chr4:174091389-174091401
31	POLR2A	chr4:174090381-174091130	IMR90	lung:	n/a	n/a
32	MAX	chr4:174090042-174091513	H1-hESC	embryonic stem cell:	n/a	chr4:174091392-174091402
33	POLR2A	chr4:174089315-174091391	A549	lung:	n/a	n/a
34	RUNX3	chr4:174090344-174091918	GM12878	blood:	n/a	chr4:174091741-174091750 chr4:174091741-174091750 chr4:174091210-174091227
35	SIN3AK20	chr4:174090502-174091461	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr4:174090012-174091463	HUVEC	blood vessel:	n/a	n/a
37	ESR1	chr4:174091066-174091366	ECC-1	luminal epithelium:	n/a	n/a
38	ELF1	chr4:174089140-174091501	GM12878	blood:	n/a	chr4:174091210-174091222 chr4:174091234-174091243 chr4:174089372-174089383 chr4:174091389-174091401
39	POLR2A	chr4:174089252-174091448	GM12878	blood:	n/a	n/a
40	BCLAF1	chr4:174090455-174091518	GM12878	blood:	n/a	chr4:174091074-174091087 chr4:174091188-174091201 chr4:174091390-174091403 chr4:174091058-174091067 chr4:174091053-174091066 chr4:174091339-174091352 chr4:174091237-174091250
41	E2F4	chr4:174090174-174091437	K562	blood:	n/a	chr4:174091060-174091069 chr4:174091244-174091253 chr4:174091394-174091403
42	RELA	chr4:174090590-174091492	GM15510	blood:	n/a	n/a
43	HEY1	chr4:174090354-174091163	K562	blood:	n/a	n/a
44	YY1	chr4:174090410-174091222	GM12892	blood:	n/a	chr4:174091060-174091069
45	GATA3	chr4:174090990-174092056	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr4:174089077-174091514	GM18951	blood:	n/a	n/a
47	RCOR1	chr4:174091047-174091511	K562	blood:	n/a	n/a
48	MYC	chr4:174088917-174091408	K562	blood:	n/a	chr4:174089336-174089346 chr4:174091392-174091402
49	RCOR1	chr4:174089108-174091522	K562	blood:	n/a	n/a
50	MAZ	chr4:174089245-174091233	Hela-S3	cervix:	n/a	chr4:174089336-174089346

No.	Distal block	Cell Line	Cell type
1	chr4:174090877..174092412-chr4:174243600..174245281,2	K562	blood:
2	chr4:174088355..174091772-chr4:174254077..174258410,8	K562	blood:
3	chr4:174088713..174091772-chr4:174254390..174258410,4	K562	blood:

Variant related genes	Relation type
ENSG00000245213	TF binding region
ENSG00000164104	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1008052	0.90[ASN][1000 genomes]
rs10213525	0.87[ASN][1000 genomes]
rs11731263	0.87[ASN][1000 genomes]
rs17059221	0.84[ASN][1000 genomes]
rs28377337	0.86[ASN][1000 genomes]
rs28451250	0.94[ASN][1000 genomes]
rs28477861	0.82[ASN][1000 genomes]
rs28663544	0.87[ASN][1000 genomes]
rs4535319	0.87[ASN][1000 genomes]
rs60815517	0.84[ASN][1000 genomes]
rs72711045	0.87[ASN][1000 genomes]
rs9683937	0.82[ASN][1000 genomes]
rs9685946	0.82[ASN][1000 genomes]
rs9999740	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	esv3464637	chr4:174089802-174092550	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv3464638	chr4:174089802-174092550	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1793244	chr4:174090004-174091120	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv1799853	chr4:174090004-174091120	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv1802600	chr4:174090004-174091120	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv1835664	chr4:174090004-174091120	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv1835702	chr4:174090004-174091120	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv1841401	chr4:174090004-174091120	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv1793569	chr4:174090004-174093002	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	esv1793960	chr4:174090004-174102397	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	esv1801469	chr4:174090004-174102397	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	esv1799519	chr4:174090004-174173743	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	esv15231	chr4:174090014-174091177	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	esv1823585	chr4:174090209-174107537	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv596231	chr4:174090263-174091120	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr4:174088400-174091400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr4:174088400-174091600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr4:174088400-174091600	Active TSS	A549	lung
4	chr4:174088400-174092200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr4:174088600-174091400	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr4:174088600-174092000	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr4:174088800-174091400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:174088800-174091400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:174088800-174091400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:174088800-174091400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:174088800-174091400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:174088800-174091400	Active TSS	Fetal Intestine Small	intestine
13	chr4:174088800-174091400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr4:174088800-174091400	Active TSS	Rectal Smooth Muscle	rectum
15	chr4:174088800-174091600	Active TSS	H1 Cell Line	embryonic stem cell
16	chr4:174088800-174091600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:174088800-174091600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:174088800-174091600	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr4:174088800-174091600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr4:174088800-174091600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:174088800-174091800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:174088800-174091800	Active TSS	Colonic Mucosa	Colon
23	chr4:174088800-174092000	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr4:174088800-174092000	Active TSS	Fetal Kidney	kidney
25	chr4:174088800-174092200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:174088800-174092200	Active TSS	HSMMtube	muscle
27	chr4:174088800-174092400	Active TSS	Thymus	Thymus
28	chr4:174089000-174091200	Active TSS	Fetal Brain Female	brain
29	chr4:174089000-174091400	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr4:174089000-174091400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:174089000-174091400	Active TSS	Brain Hippocampus Middle	brain
32	chr4:174089000-174091400	Active TSS	Colon Smooth Muscle	Colon
33	chr4:174089000-174091400	Active TSS	Fetal Intestine Large	intestine
34	chr4:174089000-174091600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:174089000-174091600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:174089000-174091600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr4:174089000-174091600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:174089000-174091600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:174089000-174091600	Active TSS	Esophagus	oesophagus
40	chr4:174089000-174091600	Active TSS	Gastric	stomach
41	chr4:174089000-174091600	Active TSS	Pancreas	Pancrea
42	chr4:174089000-174091600	Active TSS	Right Ventricle	heart
43	chr4:174089000-174091600	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr4:174089000-174091600	Active TSS	NHDF-Ad	bronchial
45	chr4:174089000-174091800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr4:174089000-174091800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:174089000-174091800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:174089000-174091800	Active TSS	Psoas Muscle	Psoas
49	chr4:174089000-174092200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:174089200-174091200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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