Variant report

Variant	rs11966209
Chromosome Location	chr6:139696839-139696840
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	chr6:139696063-139697250	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr6:139696408-139696902	K562	blood:	n/a	n/a
3	POLR2A	chr6:139696272-139697280	HUVEC	blood vessel:	n/a	n/a
4	JUND	chr6:139696263-139697115	T-47D	breast:	n/a	chr6:139696536-139696550
5	RFX5	chr6:139696408-139697280	Hela-S3	cervix:	n/a	n/a
6	MEF2C	chr6:139696388-139696878	GM12878	blood:	n/a	n/a
7	FOXP2	chr6:139696400-139697026	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr6:139694252-139697200	GM18505	blood:	n/a	n/a
9	MAX	chr6:139695347-139697242	K562	blood:	n/a	chr6:139696216-139696226 chr6:139695931-139695940 chr6:139696718-139696727 chr6:139696040-139696050
10	TBP	chr6:139696283-139697273	GM12878	blood:	n/a	n/a
11	EP300	chr6:139696237-139697044	SK-N-SH	brain:	n/a	chr6:139696516-139696532
12	EP300	chr6:139695561-139697192	HepG2	liver:	n/a	chr6:139695851-139695860 chr6:139696516-139696532 chr6:139695950-139695966 chr6:139695923-139695939 chr6:139695921-139695930 chr6:139695951-139695967
13	MAFF	chr6:139696412-139697042	HepG2	liver:	n/a	n/a
14	POLR2A	chr6:139694727-139697278	HepG2	liver:	n/a	n/a
15	SIN3AK20	chr6:139696504-139696932	PANC-1	pancreas:	n/a	n/a
16	CHD2	chr6:139695326-139697298	HepG2	liver:	n/a	chr6:139696457-139696467
17	SIN3AK20	chr6:139696432-139696860	H1-hESC	embryonic stem cell:	n/a	n/a
18	EP300	chr6:139695271-139696970	ECC-1	luminal epithelium:	n/a	chr6:139695851-139695860 chr6:139696516-139696532 chr6:139695950-139695966 chr6:139695923-139695939 chr6:139695921-139695930 chr6:139695951-139695967
19	POLR2A	chr6:139696319-139697324	HCT-116	colon:	n/a	n/a
20	POLR2A	chr6:139690635-139697449	SK-N-MC	brain:	n/a	n/a
21	MAX	chr6:139694359-139697524	NB4	blood:	n/a	chr6:139696216-139696226 chr6:139697320-139697330 chr6:139695931-139695940 chr6:139696718-139696727 chr6:139696040-139696050
22	MAFK	chr6:139696436-139696894	H1-hESC	embryonic stem cell:	n/a	n/a
23	RAD21	chr6:139695234-139697389	MCF-7	breast:	n/a	chr6:139696115-139696129 chr6:139696453-139696463
24	ZMIZ1	chr6:139695312-139697003	K562	blood:	n/a	n/a
25	ZNF384	chr6:139695256-139697537	K562	blood:	n/a	n/a
26	GTF2B	chr6:139696319-139696989	K562	blood:	n/a	n/a
27	POLR2A	chr6:139694315-139697397	MCF-7	breast:	n/a	n/a
28	SMARCB1	chr6:139694375-139697184	Hela-S3	cervix:	n/a	n/a
29	BHLHE40	chr6:139694892-139697104	HepG2	liver:	n/a	chr6:139695925-139695941 chr6:139695919-139695935 chr6:139696448-139696464 chr6:139695683-139695699 chr6:139695931-139695940 chr6:139695931-139695940 chr6:139696463-139696479
30	FOS	chr6:139696460-139697024	MCF10A-Er-Src	breast:	n/a	chr6:139696536-139696550
31	PML	chr6:139695144-139696959	GM12878	blood:	n/a	n/a
32	POLR2A	chr6:139695127-139697364	H1-hESC	embryonic stem cell:	n/a	n/a
33	GATA3	chr6:139695320-139697186	MCF-7	breast:	n/a	chr6:139695715-139695726
34	RAD21	chr6:139693702-139697472	IMR90	lung:	n/a	chr6:139696115-139696129 chr6:139696453-139696463
35	GATA1	chr6:139695404-139698090	PBDE	blood:	n/a	chr6:139697590-139697603 chr6:139695715-139695726
36	NR2F2	chr6:139696313-139697035	MCF-7	breast:	n/a	n/a
37	YY1	chr6:139696392-139697392	K562	blood:	n/a	chr6:139697316-139697325 chr6:139696456-139696465 chr6:139696555-139696566 chr6:139696514-139696525
38	HEY1	chr6:139693667-139697403	HepG2	liver:	n/a	chr6:139695125-139695134 chr6:139695952-139695967 chr6:139696056-139696071 chr6:139695963-139695978 chr6:139696554-139696569 chr6:139695931-139695940 chr6:139696513-139696528
39	SP1	chr6:139695442-139697154	A549	lung:	n/a	chr6:139696457-139696466 chr6:139696461-139696470 chr6:139696215-139696227 chr6:139696452-139696466 chr6:139696067-139696076 chr6:139696457-139696466 chr6:139696462-139696471 chr6:139696215-139696227 chr6:139696138-139696147 chr6:139696178-139696192 chr6:139696457-139696471 chr6:139696137-139696147 chr6:139696456-139696465 chr6:139696455-139696467 chr6:139696217-139696226
40	POLR2A	chr6:139689795-139697216	SK-N-MC	brain:	n/a	n/a
41	TEAD4	chr6:139696387-139696974	MCF-7	breast:	n/a	n/a
42	EBF1	chr6:139696466-139697229	GM12878	blood:	n/a	n/a
43	REST	chr6:139696406-139696857	K562	blood:	n/a	chr6:139696563-139696573
44	ZNF263	chr6:139694757-139697261	HEK293-T-REx	kidney:	n/a	n/a
45	SP1	chr6:139695225-139697439	HCT-116	colon:	n/a	chr6:139697314-139697326 chr6:139696457-139696466 chr6:139697315-139697324 chr6:139697321-139697334 chr6:139696461-139696470 chr6:139696215-139696227 chr6:139696452-139696466 chr6:139696067-139696076 chr6:139696457-139696466 chr6:139697315-139697324 chr6:139696462-139696471 chr6:139697315-139697329 chr6:139696215-139696227 chr6:139696138-139696147 chr6:139696178-139696192 chr6:139696457-139696471 chr6:139696137-139696147 chr6:139695336-139695346 chr6:139696456-139696465 chr6:139697314-139697326 chr6:139696455-139696467 chr6:139697316-139697325 chr6:139696217-139696226
46	RAD21	chr6:139696439-139696905	A549	lung:	n/a	chr6:139696453-139696463
47	MAZ	chr6:139695371-139696938	HepG2	liver:	n/a	chr6:139696216-139696226 chr6:139695931-139695940 chr6:139696718-139696727 chr6:139696040-139696050
48	MYBL2	chr6:139695302-139697466	HepG2	liver:	n/a	n/a
49	FOXA2	chr6:139696319-139697211	A549	lung:	n/a	n/a
50	POLR2A	chr6:139693704-139697382	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:32022564..32023077-chr6:139696772..139697298,2	Hela-S3	cervix:
2	chr6:139690842..139699833-chr6:139972012..139982796,35	MCF-7	breast:
3	chr15:65587125..65589446-chr6:139695651..139697778,2	MCF-7	breast:
4	chr6:139696210..139697933-chr6:140398822..140400886,2	K562	blood:
5	chr6:139696578..139698567-chr6:140007188..140008754,2	K562	blood:
6	chr6:139696316..139699290-chr6:139794575..139797588,3	MCF-7	breast:
7	chr6:139692335..139698075-chr6:140197375..140205470,17	MCF-7	breast:
8	chr6:139691043..139697550-chr6:139974067..139981700,17	MCF-7	breast:
9	chr6:139695931..139698570-chr6:140093135..140096286,3	K562	blood:
10	chr6:139348526..139351688-chr6:139694110..139698465,3	MCF-7	breast:
11	chr6:139696559..139698894-chr6:140197216..140199385,2	K562	blood:
12	chr6:139695846..139697718-chr6:140097081..140099970,2	K562	blood:
13	chr6:139696613..139698223-chr6:139884152..139886445,2	K562	blood:
14	chr6:139696672..139699040-chr6:139850757..139852385,2	MCF-7	breast:
15	chr6:139696243..139697889-chr6:140174204..140177069,2	K562	blood:
16	chr6:139696074..139699588-chr6:139740116..139744007,3	K562	blood:
17	chr6:139455520..139458326-chr6:139694327..139697443,3	K562	blood:
18	chr6:139692969..139697282-chr6:140197638..140202883,9	MCF-7	breast:
19	chr6:139696738..139700696-chr6:139886208..139888583,3	K562	blood:
20	chr17:73774534..73776616-chr6:139694816..139697270,2	MCF-7	breast:

Variant related genes	Relation type
CITED2	TF binding region
ENSG00000112406	Chromatin interaction
ENSG00000205695	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000144645	Chromatin interaction
ENSG00000225148	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000146386	Chromatin interaction
ENSG00000231426	Chromatin interaction

rs_ID	r²[population]
rs6899949	1.00[MEX][hapmap]

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:139690800-139698000	Active TSS	Ovary	ovary
2	chr6:139691000-139697200	Active TSS	Brain Angular Gyrus	brain
3	chr6:139691200-139697600	Active TSS	Fetal Brain Female	brain
4	chr6:139691600-139697600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:139691800-139697600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr6:139692000-139697600	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr6:139692400-139697600	Active TSS	Brain Cingulate Gyrus	brain
8	chr6:139692800-139697400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:139692800-139697400	Active TSS	Thymus	Thymus
10	chr6:139692800-139697800	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr6:139692800-139697800	Active TSS	Brain Anterior Caudate	brain
12	chr6:139693000-139697400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr6:139693000-139697400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:139693200-139697000	Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr6:139693200-139697200	Active TSS	Small Intestine	intestine
16	chr6:139693200-139697400	Active TSS	A549	lung
17	chr6:139693400-139697000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:139693400-139697000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:139693400-139697200	Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr6:139693400-139697200	Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr6:139693400-139697400	Active TSS	Primary monocytes fromperipheralblood	blood
22	chr6:139693400-139697400	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr6:139693400-139697400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:139693400-139697400	Active TSS	Fetal Kidney	kidney
25	chr6:139693400-139697400	Active TSS	GM12878-XiMat	blood
26	chr6:139693400-139697600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr6:139693400-139697600	Active TSS	Hela-S3	cervix
28	chr6:139693600-139697200	Active TSS	Primary T cells from cord blood	blood
29	chr6:139693600-139697400	Active TSS	H9 Cell Line	embryonic stem cell
30	chr6:139693600-139697400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:139693600-139697400	Active TSS	Monocytes-CD14+_RO01746	blood
32	chr6:139693800-139697000	Active TSS	Stomach Mucosa	stomach
33	chr6:139693800-139697400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:139693800-139697400	Active TSS	Brain Substantia Nigra	brain
35	chr6:139694000-139697200	Active TSS	Primary B cells from peripheral blood	blood
36	chr6:139694000-139697200	Bivalent/Poised TSS	HepG2	liver
37	chr6:139694000-139697400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:139694000-139697400	Active TSS	Brain Hippocampus Middle	brain
39	chr6:139694400-139697400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:139694400-139697400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:139694400-139697400	Active TSS	HSMM	muscle
42	chr6:139694400-139697400	Active TSS	HSMMtube	muscle
43	chr6:139694400-139697600	Active TSS	NHDF-Ad	bronchial
44	chr6:139694600-139697400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:139694800-139697000	Active TSS	HUVEC	blood vessel
46	chr6:139694800-139697000	Active TSS	NH-A	brain
47	chr6:139694800-139697200	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr6:139694800-139697400	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr6:139694800-139697400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr6:139694800-139697600	Active TSS	iPS-18 Cell Line	embryonic stem cell

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