Variant report

Variant	rs148284020
Chromosome Location	chr6:13487080-13487081
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	JUND	chr6:13486955-13487144	K562	blood:	n/a	n/a
2	YY1	chr6:13486966-13487159	HCT-116	colon:	n/a	n/a
3	MXI1	chr6:13484535-13488686	SK-N-SH	brain:	n/a	n/a
4	YY1	chr6:13486819-13488072	K562	blood:	n/a	chr6:13487772-13487794 chr6:13487730-13487741 chr6:13487730-13487744 chr6:13487772-13487782 chr6:13487793-13487807
5	CTCF	chr6:13486980-13487130	GM12869	blood:	n/a	n/a
6	POLR2A	chr6:13486907-13488187	GM18526	blood:	n/a	n/a
7	MAX	chr6:13486768-13488070	A549	lung:	n/a	chr6:13487342-13487351
8	CTCF	chr6:13486894-13487106	GM12892	blood:	n/a	n/a
9	MXI1	chr6:13486961-13487914	HepG2	liver:	n/a	n/a
10	POLR2A	chr6:13485907-13488270	GM18951	blood:	n/a	n/a
11	E2F4	chr6:13486864-13488140	K562	blood:	n/a	chr6:13487750-13487760
12	POLR2A	chr6:13485921-13488226	GM12892	blood:	n/a	n/a
13	POLR2A	chr6:13486837-13488588	HUVEC	blood vessel:	n/a	n/a
14	RCOR1	chr6:13487040-13487151	HepG2	liver:	n/a	n/a
15	MAX	chr6:13486246-13487267	HUVEC	blood vessel:	n/a	chr6:13486482-13486492
16	TAF1	chr6:13486897-13488362	ECC-1	luminal epithelium:	n/a	n/a
17	ZNF143	chr6:13485857-13487179	GM12878	blood:	n/a	n/a
18	MYC	chr6:13486067-13488139	NB4	blood:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
19	GTF2F1	chr6:13486919-13487122	Hela-S3	cervix:	n/a	n/a
20	RUNX3	chr6:13486822-13487156	GM12878	blood:	n/a	n/a
21	CTCF	chr6:13487011-13487095	GM19240	blood:	n/a	n/a
22	SIN3A	chr6:13485974-13487504	GM12878	blood:	n/a	chr6:13487441-13487454
23	MAX	chr6:13486184-13488812	GM12878	blood:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
24	POLR2A	chr6:13486803-13487949	GM12878	blood:	n/a	n/a
25	HEY1	chr6:13486915-13487244	K562	blood:	n/a	n/a
26	POLR2A	chr6:13487059-13487296	Hela-S3	cervix:	n/a	n/a
27	MYC	chr6:13486170-13488139	K562	blood:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
28	POLR2A	chr6:13486331-13488405	H1-hESC	embryonic stem cell:	n/a	n/a
29	YY1	chr6:13486893-13487326	ECC-1	luminal epithelium:	n/a	n/a
30	YY1	chr6:13486909-13488031	GM12878	blood:	n/a	chr6:13487772-13487794 chr6:13487730-13487741 chr6:13487730-13487744 chr6:13487772-13487782 chr6:13487793-13487807
31	RFX5	chr6:13487068-13487383	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr6:13486948-13487118	Gliobla	brain:	n/a	n/a
33	MXI1	chr6:13486134-13487276	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr6:13486965-13487165	K562	blood:	n/a	n/a
35	SMC3	chr6:13485901-13488192	Hela-S3	cervix:	n/a	n/a
36	MAX	chr6:13486122-13489098	ECC-1	luminal epithelium:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
37	MYC	chr6:13486839-13487408	MCF-7	breast:	n/a	chr6:13487342-13487351
38	CHD2	chr6:13487051-13487125	HepG2	liver:	n/a	n/a
39	MYC	chr6:13486169-13487984	K562	blood:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
40	MAX	chr6:13486152-13488018	Hela-S3	cervix:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
41	STAT1	chr6:13487012-13487195	GM12878	blood:	n/a	n/a
42	MAX	chr6:13486875-13487470	K562	blood:	n/a	chr6:13487342-13487351
43	YY1	chr6:13486932-13488073	K562	blood:	n/a	chr6:13487772-13487794 chr6:13487730-13487741 chr6:13487730-13487744 chr6:13487772-13487782 chr6:13487793-13487807
44	MAX	chr6:13485823-13488217	K562	blood:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
45	IRF1	chr6:13487057-13487088	K562	blood:	n/a	n/a
46	REST	chr6:13487041-13487500	ECC-1	luminal epithelium:	n/a	n/a
47	MYC	chr6:13486048-13487263	MCF10A-Er-Src	breast:	n/a	chr6:13486482-13486492
48	UBTF	chr6:13486612-13487994	K562	blood:	n/a	n/a
49	MAX	chr6:13486151-13488394	HCT-116	colon:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
50	RCOR1	chr6:13486899-13487190	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:13328740..13330326-chr6:13487032..13488615,2	K562	blood:
2	chr6:13273285..13276286-chr6:13486162..13489029,3	K562	blood:
3	chr6:13408139..13410381-chr6:13486541..13489029,3	MCF-7	breast:
4	chr6:13273285..13276286-chr6:13486162..13489029,4	K562	blood:
5	chr6:13484664..13490672-chr6:13572714..13577234,9	K562	blood:
6	chr6:13484393..13490113-chr6:13572102..13578017,14	MCF-7	breast:
7	chr6:13465251..13472690-chr6:13481619..13489131,10	K562	blood:
8	chr6:13326316..13328538-chr6:13485562..13488530,2	MCF-7	breast:
9	chr6:13471062..13472931-chr6:13486374..13489089,2	MCF-7	breast:
10	chr6:13486147..13488786-chr6:13613803..13616517,3	K562	blood:
11	chr6:13485388..13489511-chr6:13572660..13577514,13	MCF-7	breast:
12	chr6:13325999..13330365-chr6:13484429..13488653,6	MCF-7	breast:
13	chr6:13486545..13489203-chr6:13612282..13616748,6	MCF-7	breast:
14	chr6:13406818..13408886-chr6:13483840..13488220,5	MCF-7	breast:
15	chr6:13484642..13487748-chr6:13572714..13576594,3	K562	blood:
16	chr6:13486736..13489619-chr6:13614070..13616875,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187461	TF binding region
GFOD1	TF binding region
ENSG00000215022	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000145979	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000145990	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	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
7	esv3363743	chr6:13486598-13489146	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 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	chr6:13483400-13487600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:13484200-13488600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:13484600-13487200	Flanking Active TSS	Liver	Liver
5	chr6:13484600-13488400	Active TSS	GM12878-XiMat	blood
6	chr6:13484800-13487200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr6:13484800-13488400	Active TSS	Right Ventricle	heart
8	chr6:13485000-13488800	Active TSS	Brain Angular Gyrus	brain
9	chr6:13485000-13489600	Active TSS	Rectal Smooth Muscle	rectum
10	chr6:13485200-13488200	Active TSS	Stomach Smooth Muscle	stomach
11	chr6:13485200-13488200	Active TSS	NHLF	lung
12	chr6:13485200-13488600	Active TSS	Left Ventricle	heart
13	chr6:13485200-13488600	Active TSS	A549	lung
14	chr6:13485200-13488800	Active TSS	Brain Anterior Caudate	brain
15	chr6:13485200-13488800	Active TSS	Psoas Muscle	Psoas
16	chr6:13485400-13487200	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr6:13485400-13487200	Active TSS	Fetal Brain Male	brain
18	chr6:13485400-13487600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr6:13485400-13488600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:13485400-13488600	Active TSS	NHDF-Ad	bronchial
21	chr6:13485600-13488200	Active TSS	Placenta Amnion	Placenta Amnion
22	chr6:13485600-13488200	Active TSS	HSMMtube	muscle
23	chr6:13485600-13488600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr6:13485600-13488600	Active TSS	Esophagus	oesophagus
25	chr6:13485600-13488600	Active TSS	Lung	lung
26	chr6:13485600-13488800	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr6:13485600-13488800	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr6:13485600-13489000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:13485800-13487200	Flanking Active TSS	Placenta	Placenta
30	chr6:13485800-13487400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr6:13485800-13487400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr6:13485800-13488600	Active TSS	Ovary	ovary
33	chr6:13486000-13487200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:13486000-13487200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr6:13486000-13487400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr6:13486000-13487400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
37	chr6:13486000-13487600	Active TSS	Fetal Heart	heart
38	chr6:13486000-13488200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:13486000-13488200	Active TSS	Spleen	Spleen
40	chr6:13486000-13488200	Active TSS	Hela-S3	cervix
41	chr6:13486000-13488200	Active TSS	HMEC	breast
42	chr6:13486000-13488200	Active TSS	K562	blood
43	chr6:13486000-13488400	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr6:13486000-13488600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:13486000-13488600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:13486000-13488800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
47	chr6:13486000-13488800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr6:13486000-13488800	Active TSS	Aorta	Aorta
49	chr6:13486000-13488800	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr6:13486000-13489000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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