Variant report

Variant	rs73741557
Chromosome Location	chr6:33289898-33289899
allele	C/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	CHD1	chr6:33289848-33291651	GM12878	blood:	n/a	n/a
2	ATF2	chr6:33289650-33290120	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:33289855-33292052	GM12878	blood:	n/a	n/a
4	YY1	chr6:33289735-33290043	GM12878	blood:	n/a	n/a
5	ELF1	chr6:33289450-33290172	GM12878	blood:	n/a	chr6:33289992-33290005
6	RCOR1	chr6:33289850-33289906	GM12878	blood:	n/a	n/a
7	TAF1	chr6:33289752-33290198	GM12878	blood:	n/a	n/a
8	PML	chr6:33289741-33291509	GM12878	blood:	n/a	n/a
9	RELA	chr6:33289851-33291448	GM12891	blood:	n/a	chr6:33291132-33291141 chr6:33291132-33291141
10	POLR2A	chr6:33289816-33290458	GM12892	blood:	n/a	n/a
11	EGR1	chr6:33289820-33290095	K562	blood:	n/a	chr6:33289930-33289940 chr6:33289942-33289956 chr6:33289932-33289942
12	MTA3	chr6:33289315-33292314	GM12878	blood:	n/a	n/a
13	MTA3	chr6:33289811-33290336	GM12878	blood:	n/a	n/a
14	MXI1	chr6:33289631-33292178	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr6:33289323-33291688	K562	blood:	n/a	n/a
16	ELF1	chr6:33289767-33290162	K562	blood:	n/a	chr6:33289992-33290005
17	ELF1	chr6:33289801-33290310	GM12878	blood:	n/a	chr6:33289992-33290005
18	MXI1	chr6:33289533-33291731	IMR90	lung:	n/a	n/a
19	POLR2A	chr6:33288128-33290518	K562	blood:	n/a	n/a
20	POLR2A	chr6:33289882-33291304	GM12891	blood:	n/a	n/a
21	RUNX3	chr6:33289686-33291650	GM12878	blood:	n/a	n/a
22	STAT5A	chr6:33289598-33292237	GM12878	blood:	n/a	chr6:33291033-33291041 chr6:33291161-33291173
23	POLR2A	chr6:33289379-33291676	K562	blood:	n/a	n/a
24	EGR1	chr6:33289797-33290162	K562	blood:	n/a	chr6:33289930-33289940 chr6:33289942-33289956 chr6:33289932-33289942
25	MAZ	chr6:33289891-33291507	K562	blood:	n/a	chr6:33290602-33290612 chr6:33289930-33289940 chr6:33290501-33290511
26	E2F6	chr6:33289864-33290142	K562	blood:	n/a	chr6:33289910-33289921
27	MAZ	chr6:33289823-33291636	GM12878	blood:	n/a	chr6:33290602-33290612 chr6:33289930-33289940 chr6:33290501-33290511
28	POLR2A	chr6:33289868-33291803	GM18951	blood:	n/a	n/a
29	MAX	chr6:33289880-33290106	K562	blood:	n/a	chr6:33289930-33289940
30	GABPA	chr6:33289745-33290233	K562	blood:	n/a	n/a
31	POLR2A	chr6:33289695-33290550	GM12878	blood:	n/a	n/a
32	CUX1	chr6:33289820-33290050	GM12878	blood:	n/a	n/a
33	POLR2A	chr6:33289366-33291567	K562	blood:	n/a	n/a
34	POLR2A	chr6:33289885-33291655	GM18526	blood:	n/a	n/a
35	MAX	chr6:33289502-33291785	K562	blood:	n/a	chr6:33290602-33290612 chr6:33289930-33289940 chr6:33290501-33290511
36	POLR2A	chr6:33289879-33290276	GM12878	blood:	n/a	n/a
37	POLR2A	chr6:33289607-33291569	GM12892	blood:	n/a	n/a
38	MXI1	chr6:33289764-33290022	GM12878	blood:	n/a	n/a
39	E2F6	chr6:33289853-33291617	K562	blood:	n/a	chr6:33291304-33291313 chr6:33290472-33290482 chr6:33290471-33290482 chr6:33290469-33290481 chr6:33290598-33290607 chr6:33289910-33289921 chr6:33290474-33290481 chr6:33290470-33290481 chr6:33290473-33290481 chr6:33291018-33291027 chr6:33290473-33290481
40	POLR2A	chr6:33287862-33290997	IMR90	lung:	n/a	n/a
41	POLR2A	chr6:33289696-33291446	K562	blood:	n/a	n/a
42	HCFC1	chr6:33289837-33291694	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr6:33289781-33291181	GM12891	blood:	n/a	n/a
44	POLR2A	chr6:33289718-33292167	GM12891	blood:	n/a	n/a
45	POLR2A	chr6:33289789-33291334	GM12892	blood:	n/a	n/a
46	POLR2A	chr6:33289876-33291516	PBDE	blood:	n/a	n/a
47	POLR2A	chr6:33289591-33291418	GM12892	blood:	n/a	n/a
48	POLR2A	chr6:33285297-33291824	SK-N-MC	brain:	n/a	n/a
49	RUNX3	chr6:33289635-33291682	GM12878	blood:	n/a	n/a
50	POLR2A	chr6:33289746-33291442	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:32937579..32939434-chr6:33288341..33290768,2	MCF-7	breast:
2	chr6:33259755..33275794-chr6:33276314..33291745,68	MCF-7	breast:
3	chr6:32938603..32941969-chr6:33287550..33290595,4	K562	blood:
4	chr6:32935676..32938896-chr6:33288611..33290283,3	MCF-7	breast:
5	chr6:33280795..33292485-chr6:33374786..33387605,31	K562	blood:
6	chr6:33285348..33292496-chr6:33357328..33361566,13	K562	blood:
7	chr6:33279489..33293095-chr6:33375317..33398824,56	K562	blood:
8	chr6:32938603..32941969-chr6:33287550..33290595,3	K562	blood:
9	chr6:33283943..33291558-chr6:33357867..33362243,10	MCF-7	breast:

Variant related genes	Relation type
DAXX	TF binding region
ZBTB22	TF binding region
ENSG00000263756	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000197283	Chromatin interaction
ENSG00000204257	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000112514	Chromatin interaction
ENSG00000223837	Chromatin interaction
ENSG00000237441	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs16869178	1.00[ASN][1000 genomes]
rs1705000	1.00[ASN][1000 genomes]
rs17221716	1.00[ASN][1000 genomes]
rs1755041	1.00[ASN][1000 genomes]
rs1755042	1.00[ASN][1000 genomes]
rs1794686	1.00[ASN][1000 genomes]
rs1794688	1.00[ASN][1000 genomes]
rs35433260	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55700437	1.00[ASN][1000 genomes]
rs59473078	1.00[ASN][1000 genomes]
rs59572422	1.00[ASN][1000 genomes]
rs59841013	1.00[ASN][1000 genomes]
rs61687548	1.00[ASN][1000 genomes]
rs6900438	1.00[ASN][1000 genomes]
rs6900824	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6906691	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6906810	1.00[ASN][1000 genomes]
rs6907034	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6907978	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6928341	1.00[ASN][1000 genomes]
rs6934454	1.00[ASN][1000 genomes]
rs71536195	1.00[ASN][1000 genomes]
rs73741556	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742747	1.00[ASN][1000 genomes]
rs7743118	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830634	chr6:33161217-33330745	Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
3	esv10737	chr6:33289511-33296285	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 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	chr6:33288400-33290200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:33288400-33290400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr6:33288600-33290200	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr6:33288800-33290200	Flanking Active TSS	HMEC	breast
5	chr6:33289000-33290000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:33289000-33290000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:33289000-33290000	Weak transcription	Aorta	Aorta
8	chr6:33289000-33290200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
9	chr6:33289000-33290200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:33289000-33291400	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr6:33289200-33290000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:33289200-33290000	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr6:33289200-33290000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr6:33289200-33290000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:33289200-33290000	Flanking Active TSS	NHLF	lung
16	chr6:33289200-33290200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr6:33289200-33290200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr6:33289200-33290200	Flanking Active TSS	Hela-S3	cervix
19	chr6:33289200-33290200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr6:33289200-33290200	Flanking Active TSS	Osteobl	bone
21	chr6:33289200-33290400	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr6:33289200-33290600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:33289200-33290800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
24	chr6:33289200-33291600	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr6:33289200-33292000	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr6:33289400-33290000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr6:33289400-33290000	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr6:33289400-33290000	Enhancers	Fetal Brain Male	brain
29	chr6:33289400-33290000	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr6:33289400-33290000	Enhancers	Spleen	Spleen
31	chr6:33289400-33290000	Flanking Active TSS	HepG2	liver
32	chr6:33289400-33290200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:33289400-33290200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:33289400-33290200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr6:33289400-33290200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:33289400-33290200	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr6:33289400-33290200	Flanking Active TSS	Fetal Brain Female	brain
38	chr6:33289400-33290200	Flanking Active TSS	Fetal Lung	lung
39	chr6:33289400-33290200	Flanking Active TSS	K562	blood
40	chr6:33289400-33290400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr6:33289400-33290400	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr6:33289400-33290600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:33289400-33290600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:33289400-33291600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:33289400-33291600	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr6:33289400-33291600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:33289400-33292000	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr6:33289400-33292000	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr6:33289600-33290000	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr6:33289600-33290000	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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