Variant report

Variant	rs548370461
Chromosome Location	chr6:13486312-13486313
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	SIN3AK20	chr6:13486195-13486786	K562	blood:	n/a	n/a
2	MXI1	chr6:13484535-13488686	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr6:13486280-13486430	BE2_C	brain:	n/a	n/a
4	CTCF	chr6:13486258-13486390	GM19239	blood:	n/a	n/a
5	CTCF	chr6:13486220-13486370	BJ	skin:	n/a	n/a
6	POLR2A	chr6:13486048-13486651	GM12892	blood:	n/a	n/a
7	POLR2A	chr6:13485907-13488270	GM18951	blood:	n/a	n/a
8	CTCF	chr6:13486200-13486350	GM12874	blood:	n/a	n/a
9	POLR2A	chr6:13485921-13488226	GM12892	blood:	n/a	n/a
10	ELF1	chr6:13486206-13486791	K562	blood:	n/a	n/a
11	RAD21	chr6:13486260-13486442	GM12878	blood:	n/a	n/a
12	MAX	chr6:13486246-13487267	HUVEC	blood vessel:	n/a	chr6:13486482-13486492
13	CHD2	chr6:13486173-13486687	GM12878	blood:	n/a	n/a
14	CTCF	chr6:13486200-13486350	HMEC	breast:	n/a	n/a
15	CTCF	chr6:13486240-13486390	GM12871	blood:	n/a	n/a
16	CTCF	chr6:13486300-13486450	GM12875	blood:	n/a	n/a
17	ZNF143	chr6:13485857-13487179	GM12878	blood:	n/a	n/a
18	RCOR1	chr6:13486231-13486489	GM12878	blood:	n/a	n/a
19	MYC	chr6:13486067-13488139	NB4	blood:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
20	POLR2A	chr6:13486114-13486449	GM12891	blood:	n/a	n/a
21	ZEB1	chr6:13486139-13486439	GM12878	blood:	n/a	n/a
22	CTCFL	chr6:13486214-13486425	K562	blood:	n/a	n/a
23	CHD1	chr6:13485653-13487078	GM12878	blood:	n/a	n/a
24	SIN3A	chr6:13485974-13487504	GM12878	blood:	n/a	chr6:13487441-13487454
25	MAX	chr6:13486184-13488812	GM12878	blood:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
26	SIN3AK20	chr6:13486204-13486766	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr6:13486108-13486449	K562	blood:	n/a	n/a
28	GTF2F1	chr6:13485867-13486470	Hela-S3	cervix:	n/a	n/a
29	RFX5	chr6:13486157-13486485	Hela-S3	cervix:	n/a	n/a
30	MYC	chr6:13486170-13488139	K562	blood:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
31	TAF1	chr6:13486200-13486442	Hela-S3	cervix:	n/a	n/a
32	MYC	chr6:13486249-13486442	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr6:13486260-13486450	HUVEC	blood vessel:	n/a	n/a
34	MYC	chr6:13486201-13486707	K562	blood:	n/a	chr6:13486482-13486492
35	MTA3	chr6:13486087-13486656	GM12878	blood:	n/a	n/a
36	POLR2A	chr6:13486042-13486472	GM12892	blood:	n/a	n/a
37	CTCF	chr6:13486310-13486410	MCF-7	breast:	n/a	n/a
38	CTCF	chr6:13486280-13486430	GM12878	blood:	n/a	n/a
39	MXI1	chr6:13486134-13487276	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr6:13486280-13486430	GM12873	blood:	n/a	n/a
41	HEY1	chr6:13486175-13486451	HepG2	liver:	n/a	n/a
42	SMC3	chr6:13485901-13488192	Hela-S3	cervix:	n/a	n/a
43	E2F4	chr6:13486187-13486343	GM12878	blood:	n/a	n/a
44	POLR2A	chr6:13486306-13486397	A549	lung:	n/a	n/a
45	POU2F2	chr6:13486135-13486452	GM12891	blood:	n/a	n/a
46	MAX	chr6:13486122-13489098	ECC-1	luminal epithelium:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
47	CTCF	chr6:13486240-13486390	GM12874	blood:	n/a	n/a
48	HCFC1	chr6:13486210-13486709	K562	blood:	n/a	n/a
49	MYC	chr6:13486169-13487984	K562	blood:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
50	MAX	chr6:13486152-13488018	Hela-S3	cervix:	n/a	chr6:13487342-13487351 chr6:13486482-13486492

No.	Distal block	Cell Line	Cell type
1	chr6:13273285..13276286-chr6:13486162..13489029,3	K562	blood:
2	chr6:13273285..13276286-chr6:13486162..13489029,4	K562	blood:
3	chr6:13484664..13490672-chr6:13572714..13577234,9	K562	blood:
4	chr6:13484393..13490113-chr6:13572102..13578017,14	MCF-7	breast:
5	chr6:13465251..13472690-chr6:13481619..13489131,10	K562	blood:
6	chr6:13326316..13328538-chr6:13485562..13488530,2	MCF-7	breast:
7	chr6:13486147..13488786-chr6:13613803..13616517,3	K562	blood:
8	chr6:13485388..13489511-chr6:13572660..13577514,13	MCF-7	breast:
9	chr6:13325999..13330365-chr6:13484429..13488653,6	MCF-7	breast:
10	chr6:13406818..13408886-chr6:13483840..13488220,5	MCF-7	breast:
11	chr6:13484642..13487748-chr6:13572714..13576594,3	K562	blood:

Variant related genes	Relation type
GFOD1-AS1	TF binding region
ENSG00000225921	Chromatin interaction
ENSG00000215022	Chromatin interaction
ENSG00000145979	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000145990	Chromatin interaction
ENSG00000261071	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer 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 miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv462640	chr6:13426539-13519434	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv600994	chr6:13426539-13519434	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv470802	chr6:13441424-13519371	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3421701	chr6:13485573-13489871	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 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	chr6:13483200-13488800	Active TSS	Right Atrium	heart
2	chr6:13483400-13486400	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr6:13483400-13487600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:13484200-13488600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:13484400-13486400	Flanking Active TSS	HUVEC	blood vessel
6	chr6:13484600-13487200	Flanking Active TSS	Liver	Liver
7	chr6:13484600-13488400	Active TSS	GM12878-XiMat	blood
8	chr6:13484800-13486400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr6:13484800-13487200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr6:13484800-13488400	Active TSS	Right Ventricle	heart
11	chr6:13485000-13486600	Active TSS	Colonic Mucosa	Colon
12	chr6:13485000-13488800	Active TSS	Brain Angular Gyrus	brain
13	chr6:13485000-13489600	Active TSS	Rectal Smooth Muscle	rectum
14	chr6:13485200-13488200	Active TSS	Stomach Smooth Muscle	stomach
15	chr6:13485200-13488200	Active TSS	NHLF	lung
16	chr6:13485200-13488600	Active TSS	Left Ventricle	heart
17	chr6:13485200-13488600	Active TSS	A549	lung
18	chr6:13485200-13488800	Active TSS	Brain Anterior Caudate	brain
19	chr6:13485200-13488800	Active TSS	Psoas Muscle	Psoas
20	chr6:13485400-13486400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:13485400-13486400	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr6:13485400-13487200	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr6:13485400-13487200	Active TSS	Fetal Brain Male	brain
24	chr6:13485400-13487600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr6:13485400-13488600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:13485400-13488600	Active TSS	NHDF-Ad	bronchial
27	chr6:13485600-13486400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:13485600-13486400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:13485600-13486400	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr6:13485600-13486400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
31	chr6:13485600-13486400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
32	chr6:13485600-13486400	Flanking Active TSS	Dnd41	blood
33	chr6:13485600-13486800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
34	chr6:13485600-13487000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
35	chr6:13485600-13488200	Active TSS	Placenta Amnion	Placenta Amnion
36	chr6:13485600-13488200	Active TSS	HSMMtube	muscle
37	chr6:13485600-13488600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr6:13485600-13488600	Active TSS	Esophagus	oesophagus
39	chr6:13485600-13488600	Active TSS	Lung	lung
40	chr6:13485600-13488800	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr6:13485600-13488800	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr6:13485600-13489000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:13485800-13486400	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr6:13485800-13486400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
45	chr6:13485800-13486400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr6:13485800-13486400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr6:13485800-13486400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr6:13485800-13486400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
49	chr6:13485800-13486400	Bivalent/Poised TSS	Fetal Kidney	kidney
50	chr6:13485800-13486400	Flanking Bivalent TSS/Enh	Thymus	Thymus

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