Variant report

Variant	rs1736893
Chromosome Location	chr6:28186726-28186727
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	MAZ	chr6:28186301-28187051	GM12878	blood:	n/a	chr6:28186753-28186763
2	POLR2A	chr6:28186322-28186882	HepG2	liver:	n/a	n/a
3	CHD2	chr6:28186433-28186982	Hela-S3	cervix:	n/a	chr6:28186764-28186774 chr6:28186722-28186732
4	POLR2A	chr6:28186359-28187032	NB4	blood:	n/a	n/a
5	HCFC1	chr6:28186293-28186960	K562	blood:	n/a	n/a
6	CTCF	chr6:28186306-28186881	GM12878	blood:	n/a	chr6:28186586-28186599
7	NFIC	chr6:28186238-28186974	HepG2	liver:	n/a	n/a
8	POLR2A	chr6:28186289-28187012	K562	blood:	n/a	n/a
9	POLR2A	chr6:28186350-28186972	A549	lung:	n/a	n/a
10	ETS1	chr6:28186382-28186862	K562	blood:	n/a	chr6:28186762-28186773 chr6:28186756-28186767 chr6:28186471-28186480 chr6:28186592-28186605 chr6:28186753-28186764 chr6:28186471-28186480
11	POLR2A	chr6:28186280-28187021	K562	blood:	n/a	n/a
12	ZMIZ1	chr6:28186349-28187014	K562	blood:	n/a	n/a
13	POLR2A	chr6:28186338-28187036	Gliobla	brain:	n/a	n/a
14	TCF12	chr6:28186678-28186912	GM12878	blood:	n/a	chr6:28186860-28186867
15	ZNF143	chr6:28186343-28186960	GM12878	blood:	n/a	chr6:28186687-28186705
16	GABPA	chr6:28186351-28186937	HepG2	liver:	n/a	chr6:28186758-28186767 chr6:28186710-28186719
17	ELF1	chr6:28186115-28187009	MCF-7	breast:	n/a	n/a
18	GABPA	chr6:28186615-28186891	Hela-S3	cervix:	n/a	chr6:28186758-28186767 chr6:28186710-28186719
19	TAF1	chr6:28186212-28187027	K562	blood:	n/a	n/a
20	RCOR1	chr6:28186616-28186951	Hela-S3	cervix:	n/a	n/a
21	MAX	chr6:28186264-28187069	MCF-7	breast:	n/a	chr6:28186753-28186763
22	POLR2A	chr6:28186297-28186960	K562	blood:	n/a	n/a
23	GABPA	chr6:28186315-28187094	HL-60	blood:	n/a	chr6:28186758-28186767 chr6:28186710-28186719
24	POLR2A	chr6:28186497-28187053	SK-N-SH	brain:	n/a	n/a
25	E2F6	chr6:28186557-28186999	Hela-S3	cervix:	n/a	chr6:28186865-28186877 chr6:28186765-28186774 chr6:28186758-28186767
26	RUNX3	chr6:28186264-28187017	GM12878	blood:	n/a	n/a
27	MAX	chr6:28186371-28187059	H1-hESC	embryonic stem cell:	n/a	chr6:28186753-28186763
28	GABPA	chr6:28186341-28187126	SK-N-SH	brain:	n/a	chr6:28186758-28186767 chr6:28186710-28186719
29	POLR2A	chr6:28186019-28187004	K562	blood:	n/a	n/a
30	MAZ	chr6:28186348-28186937	Hela-S3	cervix:	n/a	chr6:28186753-28186763
31	POLR2A	chr6:28186584-28186883	A549	lung:	n/a	n/a
32	ELK1	chr6:28186320-28186926	GM12878	blood:	n/a	n/a
33	POLR2A	chr6:28186325-28187019	GM15510	blood:	n/a	n/a
34	POLR2A	chr6:28186372-28187008	ECC-1	luminal epithelium:	n/a	n/a
35	GABPA	chr6:28186616-28186870	H1-hESC	embryonic stem cell:	n/a	chr6:28186758-28186767 chr6:28186710-28186719
36	POLR2A	chr6:28186130-28187136	HepG2	liver:	n/a	n/a
37	POLR2A	chr6:28186308-28187024	HepG2	liver:	n/a	n/a
38	POLR2A	chr6:28186255-28187042	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr6:28186275-28187002	PFSK-1	brain:	n/a	n/a
40	MAX	chr6:28186334-28187074	SK-N-SH	brain:	n/a	chr6:28186753-28186763
41	TCF12	chr6:28186328-28187134	A549	lung:	n/a	chr6:28186860-28186867 chr6:28186625-28186635
42	POLR2A	chr6:28185956-28187137	Hela-S3	cervix:	n/a	n/a
43	MXI1	chr6:28186510-28186896	Hela-S3	cervix:	n/a	n/a
44	HEY1	chr6:28186219-28187085	HepG2	liver:	n/a	chr6:28186714-28186729 chr6:28186869-28186884
45	NFIC	chr6:28186240-28186807	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr6:28186338-28187031	GM19099	blood:	n/a	n/a
47	TAF1	chr6:28186291-28186935	HepG2	liver:	n/a	n/a
48	POLR2A	chr6:28186225-28187013	HL-60	blood:	n/a	n/a
49	EP300	chr6:28186651-28186911	SK-N-SH_RA	brain:	n/a	chr6:28186710-28186719
50	POLR2A	chr6:28186439-28187002	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:28184931..28189194-chr6:28190077..28194573,12	MCF-7	breast:
2	chr6:28184339..28187958-chr6:28190844..28194750,7	MCF-7	breast:
3	chr6:28182735..28195387-chr6:28315960..28325841,32	K562	blood:
4	chr6:28108272..28111912-chr6:28184259..28187979,3	MCF-7	breast:
5	chr6:28143030..28145517-chr6:28186267..28188999,2	K562	blood:
6	chr6:28185564..28187470-chr6:28218621..28220714,2	MCF-7	breast:
7	chr6:27805809..27807448-chr6:28184413..28187037,2	MCF-7	breast:
8	chr6:28184789..28191313-chr6:28230652..28235913,7	K562	blood:
9	chr6:28186460..28191177-chr6:28246836..28252039,7	K562	blood:
10	chr6:28183629..28195178-chr6:28316250..28325659,29	K562	blood:
11	chr6:28100317..28107200-chr6:28184436..28191088,8	MCF-7	breast:
12	chr6:28104139..28106070-chr6:28185714..28187223,2	MCF-7	breast:
13	chr6:28102723..28113786-chr6:28183725..28194756,41	K562	blood:
14	chr6:27775362..27779371-chr6:28186093..28189957,4	K562	blood:
15	chr6:28184981..28190782-chr6:28297491..28307222,23	K562	blood:
16	chr6:28103775..28113920-chr6:28177995..28190115,32	K562	blood:
17	chr6:28182366..28191375-chr6:28300021..28306741,17	K562	blood:

Variant related genes	Relation type
TOB2P1	TF binding region
ENSG00000203813	Chromatin interaction
ENSG00000197062	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000137185	Chromatin interaction
ENSG00000198315	Chromatin interaction
ENSG00000189298	Chromatin interaction
ENSG00000269293	Chromatin interaction
ENSG00000187626	Chromatin interaction
ENSG00000137338	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000216901	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000261839	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1150701	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs1150702	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs1150704	0.83[CHB][hapmap]
rs1233712	0.89[JPT][hapmap]
rs1736890	0.83[CHB][hapmap]
rs1736894	0.83[CHB][hapmap]
rs1778469	1.00[CHB][hapmap];1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830620	chr6:28173997-28348033	Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28185600-28187000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr6:28185600-28187400	Active TSS	Stomach Smooth Muscle	stomach
3	chr6:28185800-28187000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr6:28185800-28187200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:28186000-28187000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr6:28186000-28187000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:28186000-28187000	Active TSS	HSMM	muscle
8	chr6:28186000-28187000	Active TSS	HSMMtube	muscle
9	chr6:28186000-28187200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr6:28186000-28187200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:28186000-28187200	Active TSS	Muscle Satellite Cultured Cells	--
12	chr6:28186000-28187200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
13	chr6:28186000-28187200	Active TSS	NHLF	lung
14	chr6:28186000-28187200	Active TSS	Osteobl	bone
15	chr6:28186200-28186800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:28186200-28186800	Active TSS	Fetal Intestine Large	intestine
17	chr6:28186200-28187000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr6:28186200-28187000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:28186200-28187000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:28186200-28187000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
21	chr6:28186200-28187000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
22	chr6:28186200-28187000	Active TSS	Colonic Mucosa	Colon
23	chr6:28186200-28187000	Active TSS	Esophagus	oesophagus
24	chr6:28186200-28187000	Active TSS	Fetal Kidney	kidney
25	chr6:28186200-28187000	Active TSS	Gastric	stomach
26	chr6:28186200-28187000	Active TSS	Placenta Amnion	Placenta Amnion
27	chr6:28186200-28187000	Active TSS	Stomach Mucosa	stomach
28	chr6:28186200-28187000	Active TSS	K562	blood
29	chr6:28186200-28187200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:28186200-28187200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr6:28186200-28187200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:28186200-28187200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:28186200-28187200	Active TSS	Aorta	Aorta
34	chr6:28186200-28187200	Active TSS	Brain Hippocampus Middle	brain
35	chr6:28186200-28187200	Bivalent/Poised TSS	Fetal Brain Female	brain
36	chr6:28186200-28187200	Active TSS	Psoas Muscle	Psoas
37	chr6:28186200-28187400	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr6:28186400-28186800	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
39	chr6:28186400-28186800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:28186400-28186800	Active TSS	Adipose Nuclei	Adipose
41	chr6:28186400-28186800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr6:28186400-28186800	Active TSS	Small Intestine	intestine
43	chr6:28186400-28186800	Active TSS	HepG2	liver
44	chr6:28186400-28187000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:28186400-28187000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:28186400-28187000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:28186400-28187000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:28186400-28187000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:28186400-28187000	Active TSS	Primary monocytes fromperipheralblood	blood
50	chr6:28186400-28187000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood

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