Variant report

Variant	rs9397387
Chromosome Location	chr6:150186037-150186038
allele	G/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	MAX	chr6:150184235-150186075	MCF-7	breast:	n/a	chr6:150185270-150185280
2	POLR2A	chr6:150181876-150186422	IMR90	lung:	n/a	n/a
3	SMC3	chr6:150184169-150186458	Hela-S3	cervix:	n/a	chr6:150185239-150185249
4	CTCF	chr6:150186005-150186493	A549	lung:	n/a	n/a
5	RAD21	chr6:150183910-150186688	SK-N-SH	brain:	n/a	chr6:150184360-150184374 chr6:150185705-150185718 chr6:150185250-150185264
6	CREB1	chr6:150184813-150186117	H1-hESC	embryonic stem cell:	n/a	n/a
7	CREB1	chr6:150184887-150186443	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr6:150184113-150186548	HCT-116	colon:	n/a	chr6:150185270-150185280
9	TBP	chr6:150184918-150186242	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr6:150184847-150186654	HCT-116	colon:	n/a	chr6:150185705-150185718 chr6:150185250-150185264
11	CTCF	chr6:150186018-150186444	HepG2	liver:	n/a	n/a
12	CTCF	chr6:150185962-150186499	HCT-116	colon:	n/a	n/a
13	MXI1	chr6:150183904-150186614	SK-N-SH	brain:	n/a	n/a
14	CTCF	chr6:150185900-150186050	GM12871	blood:	n/a	n/a
15	RAD21	chr6:150185928-150186614	MCF-7	breast:	n/a	n/a
16	RAD21	chr6:150185937-150186495	HepG2	liver:	n/a	n/a
17	ARID3A	chr6:150186002-150186469	HepG2	liver:	n/a	n/a
18	MXI1	chr6:150184000-150186450	IMR90	lung:	n/a	n/a
19	CTCF	chr6:150186016-150186427	K562	blood:	n/a	n/a
20	RAD21	chr6:150185970-150186491	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZNF263	chr6:150184227-150186399	HEK293-T-REx	kidney:	n/a	n/a
22	CTCF	chr6:150185855-150186720	A549	lung:	n/a	n/a
23	MAZ	chr6:150184680-150186396	HepG2	liver:	n/a	chr6:150185270-150185280
24	E2F6	chr6:150185355-150186051	H1-hESC	embryonic stem cell:	n/a	chr6:150185587-150185597
25	CTCF	chr6:150185950-150186652	HCT-116	colon:	n/a	n/a
26	RAD21	chr6:150185950-150186537	A549	lung:	n/a	n/a
27	POLR2A	chr6:150184291-150186103	H1-hESC	embryonic stem cell:	n/a	n/a
28	RAD21	chr6:150185969-150186506	MCF-7	breast:	n/a	n/a
29	POLR2A	chr6:150186030-150186136	HUVEC	blood vessel:	n/a	n/a
30	CTCF	chr6:150185968-150186520	MCF-7	breast:	n/a	n/a
31	MAX	chr6:150184054-150186471	A549	lung:	n/a	chr6:150185270-150185280
32	YY1	chr6:150186025-150186389	HepG2	liver:	n/a	n/a
33	MAX	chr6:150184330-150186065	H1-hESC	embryonic stem cell:	n/a	chr6:150185270-150185280
34	CTCF	chr6:150185942-150186467	K562	blood:	n/a	n/a
35	POLR2A	chr6:150184403-150186239	Raji	blood:	n/a	n/a
36	POLR2A	chr6:150181811-150186475	MCF10A-Er-Src	breast:	n/a	n/a
37	RAD21	chr6:150185168-150186582	HCT-116	colon:	n/a	chr6:150185705-150185718 chr6:150185250-150185264
38	CTCF	chr6:150185900-150186050	GM06990	blood:	n/a	n/a
39	RAD21	chr6:150185956-150186453	ECC-1	luminal epithelium:	n/a	n/a
40	CTCF	chr6:150186026-150186358	A549	lung:	n/a	n/a
41	MAX	chr6:150184850-150186070	H1-hESC	embryonic stem cell:	n/a	chr6:150185270-150185280
42	RAD21	chr6:150185985-150186480	A549	lung:	n/a	n/a
43	CTCF	chr6:150186036-150186406	H1-hESC	embryonic stem cell:	n/a	n/a
44	SIN3A	chr6:150184098-150186440	H1-hESC	embryonic stem cell:	n/a	chr6:150185472-150185481
45	CREB1	chr6:150184102-150186511	HepG2	liver:	n/a	n/a
46	RAD21	chr6:150186014-150186415	HepG2	liver:	n/a	n/a
47	MAZ	chr6:150183983-150186584	IMR90	lung:	n/a	chr6:150185270-150185280
48	RAD21	chr6:150186031-150186468	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr6:150184074-150186891	SK-N-SH	brain:	n/a	chr6:150185422-150185435
50	SMC3	chr6:150183916-150186608	SK-N-SH	brain:	n/a	chr6:150185239-150185249

No.	Distal block	Cell Line	Cell type
1	chr6:150065257..150067789-chr6:150184620..150186500,2	K562	blood:
2	chr6:150156036..150158963-chr6:150184147..150187311,3	MCF-7	breast:
3	chr6:150183161..150188305-chr6:150206346..150214162,9	MCF-7	breast:
4	chr6:150184661..150189239-chr6:150198084..150201371,4	MCF-7	breast:
5	chr6:150185187..150186828-chr6:150215109..150217579,2	MCF-7	breast:
6	chr6:150037040..150038886-chr6:150185486..150187035,2	K562	blood:
7	chr6:150181490..150187274-chr6:150243970..150248410,8	MCF-7	breast:
8	chr6:149865631..149868201-chr6:150184694..150186592,2	MCF-7	breast:
9	chr6:150183832..150186232-chr6:150215270..150224001,9	MCF-7	breast:

Variant related genes	Relation type
LRP11	TF binding region
ENSG00000120253	Chromatin interaction
ENSG00000131023	Chromatin interaction
ENSG00000164520	Chromatin interaction
ENSG00000223701	Chromatin interaction
ENSG00000217733	Chromatin interaction
ENSG00000131013	Chromatin interaction
ENSG00000203722	Chromatin interaction
ENSG00000120256	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10457853	0.81[AMR][1000 genomes]
rs2342773	0.81[AMR][1000 genomes]
rs4142628	0.81[AMR][1000 genomes]
rs6557137	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6910351	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72997594	0.81[AMR][1000 genomes]
rs9322226	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9322227	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9371216	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9371502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9371523	0.81[EUR][1000 genomes]
rs9371539	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9383569	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9383573	0.85[AMR][1000 genomes]
rs9383583	0.81[EUR][1000 genomes]
rs9383916	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9383943	0.81[AMR][1000 genomes]
rs9397049	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9397053	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9397056	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9397057	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9397060	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9397394	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9397399	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9397419	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9397447	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv3437961	chr6:150182459-150187257	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv823860	chr6:150183482-150186226	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150182000-150186200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr6:150183600-150186200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:150183600-150186200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:150183600-150186200	Active TSS	Brain Anterior Caudate	brain
5	chr6:150183600-150186200	Active TSS	NHLF	lung
6	chr6:150183600-150186400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:150183600-150186400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:150183600-150186400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:150183600-150186400	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr6:150183600-150186400	Active TSS	A549	lung
11	chr6:150183600-150186600	Active TSS	Brain Angular Gyrus	brain
12	chr6:150183800-150186200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:150183800-150186200	Active TSS	Right Ventricle	heart
14	chr6:150183800-150186400	Active TSS	Osteobl	bone
15	chr6:150183800-150186600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:150184000-150186200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr6:150184000-150186200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:150184000-150186200	Active TSS	Ovary	ovary
19	chr6:150184000-150186200	Active TSS	Right Atrium	heart
20	chr6:150184000-150186400	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr6:150184200-150186200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr6:150184200-150186200	Active TSS	H1 Cell Line	embryonic stem cell
23	chr6:150184200-150186200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:150184200-150186200	Active TSS	Aorta	Aorta
25	chr6:150184200-150186200	Active TSS	Brain Substantia Nigra	brain
26	chr6:150184200-150186200	Active TSS	Fetal Lung	lung
27	chr6:150184200-150186400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:150184200-150186400	Active TSS	Fetal Brain Female	brain
29	chr6:150184200-150186400	Active TSS	Stomach Mucosa	stomach
30	chr6:150184200-150186600	Active TSS	Brain Hippocampus Middle	brain
31	chr6:150184200-150186600	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr6:150184400-150186400	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr6:150184400-150186400	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr6:150184400-150186400	Active TSS	Fetal Kidney	kidney
35	chr6:150184400-150186400	Active TSS	NH-A	brain
36	chr6:150184600-150186200	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr6:150184600-150186400	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr6:150184800-150186200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr6:150185000-150186200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr6:150185000-150186200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:150185000-150186400	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr6:150185200-150186200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr6:150185400-150186200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:150185600-150186200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:150185600-150186200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr6:150185600-150186200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr6:150185600-150186200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr6:150185600-150186200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr6:150185600-150186200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr6:150185600-150186200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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