Variant report

Variant	rs576834962
Chromosome Location	chr6:56708107-56708108
allele	A/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	CTCF	chr6:56708000-56708150	SAEC	small airway:	n/a	n/a
2	POLR2A	chr6:56707616-56709245	GM19193	blood:	n/a	n/a
3	POLR2A	chr6:56707687-56709241	MCF-7	breast:	n/a	n/a
4	POLR2A	chr6:56708069-56708496	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAZ	chr6:56707881-56709242	GM12878	blood:	n/a	chr6:56708634-56708644 chr6:56708654-56708663
6	SIN3A	chr6:56707523-56709292	H1-hESC	embryonic stem cell:	n/a	chr6:56708586-56708599 chr6:56708333-56708344
7	RAD21	chr6:56707393-56708245	IMR90	lung:	n/a	chr6:56708102-56708112
8	POLR2A	chr6:56708002-56708571	HCT-116	colon:	n/a	n/a
9	STAT5A	chr6:56707503-56708287	GM12878	blood:	n/a	chr6:56707600-56707614
10	YY1	chr6:56707989-56708518	GM12892	blood:	n/a	chr6:56708383-56708394 chr6:56708322-56708336
11	POLR2A	chr6:56708052-56708580	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr6:56707980-56708130	HepG2	liver:	n/a	n/a
13	TAF1	chr6:56707957-56708501	H1-hESC	embryonic stem cell:	n/a	n/a
14	SIN3AK20	chr6:56707843-56708499	SK-N-SH	brain:	n/a	n/a
15	RUNX3	chr6:56707614-56708544	GM12878	blood:	n/a	n/a
16	MXI1	chr6:56707183-56709485	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr6:56707345-56709348	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr6:56707757-56708568	IMR90	lung:	n/a	n/a
19	POLR2A	chr6:56707514-56709185	ProgFib	skin:	n/a	n/a
20	TCF7L2	chr6:56707642-56708497	HCT-116	colon:	n/a	n/a
21	POLR2A	chr6:56707650-56709132	HEK293	kidney:	n/a	n/a
22	ZNF143	chr6:56707661-56708246	GM12878	blood:	n/a	chr6:56708096-56708106
23	SIN3AK20	chr6:56707734-56708494	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr6:56707320-56709243	H1-neurons	neurons:	n/a	n/a
25	MYC	chr6:56707864-56708550	NB4	blood:	n/a	n/a
26	CTBP2	chr6:56707682-56708501	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr6:56707701-56709206	GM19099	blood:	n/a	n/a
28	POLR2A	chr6:56708010-56709223	MCF-7	breast:	n/a	n/a
29	CTCF	chr6:56708000-56708150	AG04449	skin:	n/a	n/a
30	EBF1	chr6:56707449-56708152	GM12878	blood:	n/a	n/a
31	CTCF	chr6:56707980-56708130	GM12871	blood:	n/a	n/a
32	CHD1	chr6:56707490-56708200	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr6:56707313-56709296	H1-neurons	neurons:	n/a	n/a
34	RAD21	chr6:56707854-56708405	H1-hESC	embryonic stem cell:	n/a	chr6:56708102-56708112
35	POLR2A	chr6:56708105-56708513	A549	lung:	n/a	n/a
36	ZEB1	chr6:56707473-56708525	GM12878	blood:	n/a	n/a
37	YY1	chr6:56707994-56708465	GM12891	blood:	n/a	chr6:56708383-56708394 chr6:56708322-56708336
38	MXI1	chr6:56707426-56709479	IMR90	lung:	n/a	n/a
39	POLR2A	chr6:56707365-56709352	PANC-1	pancreas:	n/a	n/a
40	MAX	chr6:56707899-56709443	A549	lung:	n/a	chr6:56708634-56708644 chr6:56708654-56708663
41	POLR2A	chr6:56707603-56708700	Gliobla	brain:	n/a	n/a
42	EGR1	chr6:56707914-56708163	K562	blood:	n/a	chr6:56708091-56708104 chr6:56708091-56708104
43	MTA3	chr6:56707261-56708281	GM12878	blood:	n/a	n/a
44	MXI1	chr6:56707771-56708499	HepG2	liver:	n/a	n/a
45	POLR2A	chr6:56707816-56708240	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr6:56707990-56708517	GM12878	blood:	n/a	n/a
47	ZBTB7A	chr6:56707968-56708186	K562	blood:	n/a	n/a
48	POLR2A	chr6:56707646-56709262	MCF-7	breast:	n/a	n/a
49	CHD1	chr6:56704985-56709414	IMR90	lung:	n/a	n/a
50	SPI1	chr6:56707787-56708331	HL-60	blood:	n/a	chr6:56708044-56708051 chr6:56708040-56708053

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56707257..56710686-chr6:56712186..56717279,8	MCF-7	breast:
2	chr6:56704167..56710132-chr6:56712428..56720773,11	MCF-7	breast:

Variant related genes	Relation type
DST	TF binding region
ENSG00000231441	TF binding region
ENSG00000151914	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv3338248	chr6:56707418-56709966	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3350484	chr6:56707493-56709741	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56704000-56709400	Active TSS	Right Atrium	heart
2	chr6:56704200-56709200	Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr6:56704600-56709200	Active TSS	HSMMtube	muscle
4	chr6:56704800-56709400	Active TSS	HSMM	muscle
5	chr6:56705000-56709400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr6:56705200-56709400	Active TSS	Right Ventricle	heart
7	chr6:56705400-56709200	Active TSS	Brain Cingulate Gyrus	brain
8	chr6:56705400-56709200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:56705600-56708200	Active TSS	Fetal Heart	heart
10	chr6:56705600-56709200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr6:56705600-56709200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:56705600-56709200	Active TSS	Aorta	Aorta
13	chr6:56705600-56709200	Active TSS	Left Ventricle	heart
14	chr6:56705600-56709200	Active TSS	Stomach Smooth Muscle	stomach
15	chr6:56705600-56709200	Active TSS	NHLF	lung
16	chr6:56705600-56709400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:56705800-56709200	Active TSS	A549	lung
18	chr6:56705800-56709400	Active TSS	Muscle Satellite Cultured Cells	--
19	chr6:56705800-56709400	Active TSS	Brain Anterior Caudate	brain
20	chr6:56706000-56709000	Active TSS	Fetal Brain Female	brain
21	chr6:56706000-56709200	Active TSS	H1 Cell Line	embryonic stem cell
22	chr6:56706000-56709200	Active TSS	Ovary	ovary
23	chr6:56706200-56709200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:56706200-56709200	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr6:56706200-56709200	Active TSS	GM12878-XiMat	blood
26	chr6:56706200-56709400	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr6:56706400-56709200	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr6:56706400-56709200	Active TSS	Brain Angular Gyrus	brain
29	chr6:56706400-56709400	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr6:56706600-56709200	Active TSS	H9 Cell Line	embryonic stem cell
31	chr6:56706800-56708200	Active TSS	Fetal Brain Male	brain
32	chr6:56706800-56709000	Active TSS	NHDF-Ad	bronchial
33	chr6:56706800-56709200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:56706800-56709200	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr6:56706800-56709200	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr6:56706800-56709400	Active TSS	Brain Substantia Nigra	brain
37	chr6:56707000-56708800	Active TSS	NH-A	brain
38	chr6:56707000-56709200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:56707000-56709200	Active TSS	Brain Hippocampus Middle	brain
40	chr6:56707200-56708200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:56707200-56708800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:56707200-56709200	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr6:56707200-56709200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:56707200-56709200	Active TSS	Colon Smooth Muscle	Colon
45	chr6:56707200-56709200	Active TSS	Placenta Amnion	Placenta Amnion
46	chr6:56707200-56709400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:56707400-56708200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:56707400-56708200	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr6:56707400-56708200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
50	chr6:56707400-56708200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum

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