Variant report

Variant	rs56738294
Chromosome Location	chr6:36954820-36954821
allele	C/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	MAX	chr6:36953617-36954885	A549	lung:	n/a	chr6:36953976-36953985 chr6:36953976-36953985 chr6:36953976-36953985
2	MYC	chr6:36953719-36954957	NB4	blood:	n/a	chr6:36953976-36953985 chr6:36953976-36953985 chr6:36953976-36953985
3	POLR2A	chr6:36953625-36954855	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr6:36953632-36955129	K562	blood:	n/a	n/a
5	POLR2A	chr6:36953551-36954899	MCF-7	breast:	n/a	n/a
6	SIN3A	chr6:36952572-36954896	H1-hESC	embryonic stem cell:	n/a	chr6:36954205-36954218 chr6:36954129-36954142
7	MYC	chr6:36953758-36955211	K562	blood:	n/a	chr6:36953976-36953985 chr6:36953976-36953985 chr6:36953976-36953985
8	EP300	chr6:36954522-36954961	GM12878	blood:	n/a	n/a
9	MYBL2	chr6:36953571-36954858	HepG2	liver:	n/a	n/a
10	ZC3H11A	chr6:36953963-36954933	K562	blood:	n/a	n/a
11	BHLHE40	chr6:36953594-36955050	HepG2	liver:	n/a	chr6:36954127-36954143 chr6:36953970-36953991 chr6:36953977-36953986 chr6:36953976-36953985 chr6:36954542-36954558 chr6:36954191-36954207 chr6:36953974-36953987 chr6:36953976-36953985 chr6:36953975-36953984
12	POLR2A	chr6:36953689-36955055	GM12891	blood:	n/a	n/a
13	POLR2A	chr6:36954808-36955069	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:36953571-36954915	ProgFib	skin:	n/a	n/a
15	POLR2A	chr6:36953521-36955032	PFSK-1	brain:	n/a	n/a
16	TBL1XR1	chr6:36953650-36955229	K562	blood:	n/a	n/a
17	IRF1	chr6:36953738-36954843	K562	blood:	n/a	chr6:36953986-36954000 chr6:36954233-36954247 chr6:36954011-36954025
18	POLR2A	chr6:36953544-36955019	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr6:36953654-36954955	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:36953426-36955258	K562	blood:	n/a	n/a
21	ELK1	chr6:36953727-36954943	K562	blood:	n/a	n/a
22	POLR2A	chr6:36953693-36954848	HCT-116	colon:	n/a	n/a
23	POLR2A	chr6:36953652-36955097	MCF10A-Er-Src	breast:	n/a	n/a
24	MXI1	chr6:36952363-36955399	SK-N-SH	brain:	n/a	n/a
25	IRF1	chr6:36953685-36954875	K562	blood:	n/a	chr6:36953986-36954000 chr6:36954233-36954247 chr6:36954011-36954025
26	POLR2A	chr6:36953678-36955323	HepG2	liver:	n/a	n/a
27	MAZ	chr6:36953500-36954830	IMR90	lung:	n/a	chr6:36953976-36953985 chr6:36953976-36953985 chr6:36953976-36953985
28	BHLHE40	chr6:36953686-36955044	K562	blood:	n/a	chr6:36954127-36954143 chr6:36953970-36953991 chr6:36953977-36953986 chr6:36953976-36953985 chr6:36954542-36954558 chr6:36954191-36954207 chr6:36953974-36953987 chr6:36953976-36953985 chr6:36953975-36953984
29	POLR2A	chr6:36953807-36954865	K562	blood:	n/a	n/a
30	POLR2A	chr6:36952212-36954906	IMR90	lung:	n/a	n/a
31	ZNF143	chr6:36954703-36954877	K562	blood:	n/a	n/a
32	POLR2A	chr6:36953520-36955354	H1-hESC	embryonic stem cell:	n/a	n/a
33	MYC	chr6:36954813-36954893	HepG2	liver:	n/a	n/a
34	MAX	chr6:36953705-36955140	NB4	blood:	n/a	chr6:36953976-36953985 chr6:36953976-36953985 chr6:36953976-36953985
35	TEAD4	chr6:36953495-36955307	K562	blood:	n/a	n/a
36	USF1	chr6:36953466-36955062	HCT-116	colon:	n/a	chr6:36954127-36954143 chr6:36953970-36953991 chr6:36953977-36953986 chr6:36953976-36953985 chr6:36954542-36954558 chr6:36954191-36954207 chr6:36953974-36953987 chr6:36953976-36953985 chr6:36953975-36953984
37	POLR2A	chr6:36953440-36955247	PFSK-1	brain:	n/a	n/a
38	POLR2A	chr6:36953407-36954835	H1-neurons	neurons:	n/a	n/a
39	JUND	chr6:36952199-36955409	SK-N-SH	brain:	n/a	n/a
40	MAX	chr6:36953487-36955236	K562	blood:	n/a	chr6:36953976-36953985 chr6:36953976-36953985 chr6:36953976-36953985
41	POLR2A	chr6:36953547-36955286	Raji	blood:	n/a	n/a
42	POLR2A	chr6:36953575-36954986	ECC-1	luminal epithelium:	n/a	n/a
43	MYC	chr6:36953676-36955081	K562	blood:	n/a	chr6:36953976-36953985 chr6:36953976-36953985 chr6:36953976-36953985
44	POLR2A	chr6:36953667-36955141	MCF10A-Er-Src	breast:	n/a	n/a
45	PML	chr6:36953510-36954822	GM12878	blood:	n/a	n/a
46	MAX	chr6:36953495-36954996	HepG2	liver:	n/a	chr6:36953976-36953985 chr6:36953976-36953985 chr6:36953976-36953985
47	MXI1	chr6:36952134-36955140	IMR90	lung:	n/a	n/a
48	POLR2A	chr6:36953467-36955388	SK-N-MC	brain:	n/a	n/a
49	HCFC1	chr6:36953615-36955076	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr6:36953486-36954879	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:36930754..36936310-chr6:36950773..36956274,7	MCF-7	breast:
2	chr6:36952074..36956895-chr6:36967839..36978010,11	MCF-7	breast:
3	chr19:55918204..55919099-chr6:36954269..36955029,2	Hela-S3	cervix:
4	chr6:36852278..36855515-chr6:36952430..36957026,4	MCF-7	breast:
5	chr6:36852138..36856054-chr6:36953606..36956862,5	K562	blood:
6	chr6:36889896..36892689-chr6:36954303..36956712,2	MCF-7	breast:
7	chr6:36724390..36726745-chr6:36953555..36956553,2	K562	blood:
8	chr6:36929829..36933522-chr6:36953197..36956380,5	MCF-7	breast:
9	chr6:36936791..36939065-chr6:36954271..36955828,2	MCF-7	breast:
10	chr6:36934908..36939247-chr6:36952489..36955593,6	MCF-7	breast:
11	chr6:36954231..36957100-chr6:36969352..36972549,3	K562	blood:
12	chr6:36838369..36843263-chr6:36951921..36955568,5	MCF-7	breast:
13	chr6:36954227..36956971-chr6:36992385..36994779,2	K562	blood:
14	chr6:36953605..36955180-chr6:37399250..37401093,2	K562	blood:

Variant related genes	Relation type
MTCH1	TF binding region
ENSG00000164530	Chromatin interaction
ENSG00000124772	Chromatin interaction
ENSG00000137409	Chromatin interaction
ENSG00000137168	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000137200	Chromatin interaction
ENSG00000146192	Chromatin interaction
ENSG00000198663	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12523725	0.85[ASN][1000 genomes]
rs13193265	0.85[ASN][1000 genomes]
rs1554721	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3822972	0.83[ASN][1000 genomes]
rs4711477	0.80[ASN][1000 genomes]
rs4711478	0.80[ASN][1000 genomes]
rs708008	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv885815	chr6:36915906-36979583	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv5263	chr6:36941625-36972109	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
5	nsv518386	chr6:36942746-37037670	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv602952	chr6:36951210-36978745	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	esv19906	chr6:36951876-36955062	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
8	esv3404117	chr6:36952499-36955347	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	22 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	chr6:36952200-36955200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:36952200-36955200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:36952400-36955000	Active TSS	Ovary	ovary
4	chr6:36952400-36955200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr6:36952600-36955000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:36952600-36955000	Active TSS	Lung	lung
7	chr6:36952600-36955400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr6:36952600-36955400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr6:36952600-36955400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr6:36952600-36955400	Active TSS	Fetal Muscle Trunk	muscle
11	chr6:36952800-36955000	Active TSS	Gastric	stomach
12	chr6:36952800-36955000	Active TSS	Psoas Muscle	Psoas
13	chr6:36952800-36955000	Active TSS	Right Ventricle	heart
14	chr6:36952800-36955000	Active TSS	Stomach Mucosa	stomach
15	chr6:36952800-36955200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr6:36953000-36955000	Active TSS	Left Ventricle	heart
17	chr6:36953000-36955000	Active TSS	Pancreas	Pancrea
18	chr6:36953400-36955000	Active TSS	Fetal Brain Female	brain
19	chr6:36954200-36955000	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr6:36954400-36955000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:36954400-36955000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:36954400-36955000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr6:36954400-36955000	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr6:36954400-36955000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr6:36954400-36955000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr6:36954400-36955000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr6:36954400-36955000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr6:36954400-36955000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:36954400-36955000	Active TSS	Right Atrium	heart
30	chr6:36954400-36955000	Flanking Active TSS	NH-A	brain
31	chr6:36954400-36955200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr6:36954400-36955200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr6:36954400-36955200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:36954400-36955200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:36954400-36955200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr6:36954400-36955200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:36954400-36955200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:36954400-36955200	Flanking Active TSS	Fetal Brain Male	brain
39	chr6:36954400-36955200	Flanking Active TSS	Fetal Thymus	thymus
40	chr6:36954400-36955200	Flanking Active TSS	HMEC	breast
41	chr6:36954400-36955400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:36954400-36955400	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr6:36954400-36955400	Flanking Active TSS	Liver	Liver
44	chr6:36954400-36955400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr6:36954400-36955400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr6:36954400-36955400	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr6:36954400-36955400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr6:36954600-36955000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:36954600-36955000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr6:36954600-36955000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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