Variant report

Variant	rs143189059
Chromosome Location	chr6:114664421-114664422
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	POLR2A	chr6:114663503-114664890	MCF-7	breast:	n/a	n/a
2	MAX	chr6:114663348-114665063	H1-hESC	embryonic stem cell:	n/a	chr6:114663909-114663919
3	CTBP2	chr6:114662281-114665659	H1-hESC	embryonic stem cell:	n/a	n/a
4	HDAC2	chr6:114664222-114664541	HepG2	liver:	n/a	n/a
5	POLR2A	chr6:114663906-114665075	MCF-7	breast:	n/a	n/a
6	RAD21	chr6:114663725-114665085	H1-hESC	embryonic stem cell:	n/a	chr6:114664014-114664028
7	CTCF	chr6:114664420-114665279	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr6:114663702-114665121	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr6:114663741-114664832	H1-neurons	neurons:	n/a	chr6:114663896-114663909 chr6:114663894-114663904 chr6:114664009-114664019 chr6:114663799-114663812 chr6:114663791-114663804
10	POLR2A	chr6:114664347-114664641	H1-hESC	embryonic stem cell:	n/a	n/a
11	TEAD4	chr6:114664251-114664565	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3AK20	chr6:114663622-114664959	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr6:114663836-114664933	ECC-1	luminal epithelium:	n/a	chr6:114663909-114663919
14	MYC	chr6:114663311-114664918	MCF-7	breast:	n/a	chr6:114663909-114663919
15	ZNF263	chr6:114663261-114665785	HEK293-T-REx	kidney:	n/a	chr6:114664324-114664333 chr6:114664435-114664444 chr6:114664438-114664447 chr6:114665558-114665567 chr6:114664327-114664336 chr6:114664427-114664448 chr6:114664330-114664339
16	YY1	chr6:114663262-114664920	HepG2	liver:	n/a	chr6:114664529-114664540 chr6:114664782-114664791 chr6:114664782-114664796 chr6:114663639-114663650 chr6:114664788-114664797 chr6:114664783-114664797 chr6:114664786-114664797 chr6:114664035-114664044 chr6:114663784-114663795 chr6:114663633-114663642
17	ZNF143	chr6:114663775-114665084	H1-hESC	embryonic stem cell:	n/a	chr6:114664037-114664047
18	RAD21	chr6:114663599-114665167	H1-hESC	embryonic stem cell:	n/a	chr6:114664014-114664028
19	TCF12	chr6:114664218-114664476	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr6:114662622-114665114	HepG2	liver:	n/a	chr6:114663909-114663919 chr6:114662816-114662826
21	RAD21	chr6:114664211-114664439	SK-N-SH_RA	brain:	n/a	n/a
22	MAX	chr6:114663334-114665043	MCF-7	breast:	n/a	chr6:114663909-114663919
23	POLR2A	chr6:114664359-114665282	H1-hESC	embryonic stem cell:	n/a	n/a
24	TAF7	chr6:114664225-114665313	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr6:114664252-114664480	H1-hESC	embryonic stem cell:	n/a	n/a
26	ELF1	chr6:114664219-114665044	MCF-7	breast:	n/a	chr6:114664453-114664462 chr6:114664783-114664795 chr6:114664761-114664770
27	MAX	chr6:114663464-114665075	H1-hESC	embryonic stem cell:	n/a	chr6:114663909-114663919
28	POLR2A	chr6:114663387-114665125	HepG2	liver:	n/a	n/a
29	POLR2A	chr6:114663279-114664983	MCF-7	breast:	n/a	n/a
30	TBP	chr6:114663977-114665253	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr6:114663988-114664602	H1-neurons	neurons:	n/a	n/a
32	MYC	chr6:114664041-114664445	MCF-7	breast:	n/a	n/a
33	RAD21	chr6:114663648-114666435	SK-N-SH	brain:	n/a	chr6:114664014-114664028
34	ZBTB7A	chr6:114664210-114664617	ECC-1	luminal epithelium:	n/a	n/a
35	SIN3A	chr6:114662155-114665720	H1-hESC	embryonic stem cell:	n/a	chr6:114664973-114664982 chr6:114664496-114664505 chr6:114663711-114663722 chr6:114663893-114663901 chr6:114663791-114663804 chr6:114664021-114664030
36	MXI1	chr6:114664321-114664918	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114662119..114667220-chr6:114669334..114673077,6	MCF-7	breast:
2	chr6:114290903..114293553-chr6:114664243..114666092,2	MCF-7	breast:

Variant related genes	Relation type
HS3ST5	TF binding region
ENSG00000196591	Chromatin interaction
ENSG00000228624	Chromatin interaction
ENSG00000218089	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024062	chr6:114311029-114679557	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
2	esv34434	chr6:114465305-115462799	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv464024	chr6:114489321-114837181	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv604544	chr6:114489321-114837181	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv3692910	chr6:114597419-115480580	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv528128	chr6:114597657-115471129	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv818451	chr6:114597657-115471129	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	esv3390393	chr6:114662484-114665032	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3420121	chr6:114662709-114664707	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv12960	chr6:114663097-114665140	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv604545	chr6:114663349-114664823	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114659800-114665400	Active TSS	H1 Cell Line	embryonic stem cell
2	chr6:114661000-114665000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr6:114661000-114665200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:114661000-114665800	Active TSS	Brain Anterior Caudate	brain
5	chr6:114661200-114665000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:114661200-114665200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:114661400-114665200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr6:114661400-114665400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr6:114661400-114665600	Active TSS	Brain Angular Gyrus	brain
10	chr6:114661600-114665000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:114661600-114665200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:114661800-114665000	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr6:114662200-114665200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:114662200-114665400	Active TSS	Brain Substantia Nigra	brain
15	chr6:114662200-114665600	Active TSS	Brain Cingulate Gyrus	brain
16	chr6:114662400-114665000	Active TSS	Fetal Kidney	kidney
17	chr6:114662400-114665400	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr6:114662600-114664600	Active TSS	HSMM	muscle
19	chr6:114662600-114664800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr6:114662800-114664600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
21	chr6:114662800-114664800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:114662800-114665000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:114662800-114665000	Active TSS	Colon Smooth Muscle	Colon
24	chr6:114662800-114665200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:114663000-114664600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:114663000-114664800	Bivalent/Poised TSS	NHLF	lung
27	chr6:114663000-114665000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:114663000-114665000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:114663000-114665000	Bivalent Enhancer	Liver	Liver
30	chr6:114663000-114665000	Bivalent/Poised TSS	Psoas Muscle	Psoas
31	chr6:114663200-114664600	Active TSS	Aorta	Aorta
32	chr6:114663200-114664600	Weak transcription	Fetal Heart	heart
33	chr6:114663200-114664600	Bivalent/Poised TSS	Left Ventricle	heart
34	chr6:114663200-114664600	Flanking Bivalent TSS/Enh	HMEC	breast
35	chr6:114663200-114664600	Bivalent/Poised TSS	NHEK	skin
36	chr6:114663200-114664800	Active TSS	Right Atrium	heart
37	chr6:114663200-114665000	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr6:114663200-114665000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
39	chr6:114663200-114665200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:114663200-114665200	Active TSS	Rectal Smooth Muscle	rectum
41	chr6:114663400-114664600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:114663400-114664600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:114663400-114664600	Active TSS	Fetal Brain Female	brain
44	chr6:114663400-114664600	Bivalent/Poised TSS	Fetal Lung	lung
45	chr6:114663400-114664600	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr6:114663400-114664600	Active TSS	NH-A	brain
47	chr6:114663400-114664800	Flanking Bivalent TSS/Enh	Ovary	ovary
48	chr6:114663400-114665000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:114663400-114665000	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr6:114663400-114665000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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