Variant report

Variant	rs9470085
Chromosome Location	chr6:35700433-35700434
allele	A/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	MAX	chr6:35699044-35700502	MCF-7	breast:	n/a	chr6:35699901-35699911 chr6:35700106-35700113
2	MXI1	chr6:35698606-35700860	SK-N-SH	brain:	n/a	n/a
3	IRF1	chr6:35698911-35700523	K562	blood:	n/a	chr6:35699289-35699303 chr6:35699588-35699602 chr6:35699249-35699263
4	MTA3	chr6:35699882-35700558	GM12878	blood:	n/a	n/a
5	MAZ	chr6:35698501-35700911	IMR90	lung:	n/a	chr6:35699901-35699911 chr6:35700106-35700113
6	MXI1	chr6:35699047-35700648	IMR90	lung:	n/a	n/a
7	YY1	chr6:35700255-35700497	K562	blood:	n/a	n/a
8	POLR2A	chr6:35699088-35700573	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr6:35698619-35701212	MCF10A-Er-Src	breast:	n/a	n/a
10	YY1	chr6:35699167-35700546	GM12892	blood:	n/a	chr6:35699715-35699729 chr6:35699670-35699684 chr6:35699170-35699181 chr6:35699676-35699690 chr6:35699633-35699644 chr6:35699383-35699394
11	FOS	chr6:35699994-35700493	MCF10A-Er-Src	breast:	n/a	n/a
12	TAF1	chr6:35699439-35700440	K562	blood:	n/a	n/a
13	YY1	chr6:35699176-35700487	GM12878	blood:	n/a	chr6:35699715-35699729 chr6:35699670-35699684 chr6:35699676-35699690 chr6:35699633-35699644 chr6:35699383-35699394
14	TCF7L2	chr6:35699770-35700488	PANC-1	pancreas:	n/a	chr6:35700071-35700080 chr6:35700068-35700082 chr6:35700068-35700082
15	POLR2A	chr6:35699184-35700616	GM12878	blood:	n/a	n/a
16	MAX	chr6:35698930-35700695	K562	blood:	n/a	chr6:35699901-35699911 chr6:35700106-35700113
17	SIN3A	chr6:35698837-35700448	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr6:35699619-35700441	HepG2	liver:	n/a	n/a
19	POLR2A	chr6:35698944-35700557	GM12891	blood:	n/a	n/a
20	POLR2A	chr6:35698692-35700789	MCF10A-Er-Src	breast:	n/a	n/a
21	EP300	chr6:35699106-35700467	SK-N-SH	brain:	n/a	chr6:35699676-35699685 chr6:35699676-35699692 chr6:35699715-35699724
22	POLR2A	chr6:35699203-35700445	GM12892	blood:	n/a	n/a
23	TCF7L2	chr6:35699590-35700521	Hela-S3	cervix:	n/a	chr6:35700071-35700080 chr6:35700068-35700082 chr6:35700068-35700082
24	CREB1	chr6:35698783-35700474	HepG2	liver:	n/a	n/a
25	TEAD4	chr6:35698952-35700678	K562	blood:	n/a	n/a
26	HCFC1	chr6:35699185-35700811	Hela-S3	cervix:	n/a	n/a
27	EBF1	chr6:35698657-35700452	GM12878	blood:	n/a	n/a
28	CHD1	chr6:35699848-35700468	GM12878	blood:	n/a	chr6:35699945-35699955 chr6:35699884-35699891
29	POLR2A	chr6:35699066-35700508	K562	blood:	n/a	n/a
30	SPI1	chr6:35700383-35700596	K562	blood:	n/a	n/a
31	FOS	chr6:35699643-35700483	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr6:35699193-35700629	K562	blood:	n/a	n/a
33	MYC	chr6:35699306-35700471	MCF10A-Er-Src	breast:	n/a	chr6:35699901-35699911 chr6:35700106-35700113
34	POLR2A	chr6:35699183-35700669	K562	blood:	n/a	n/a
35	NR3C1	chr6:35698988-35700456	A549	lung:	n/a	chr6:35699794-35699810 chr6:35699795-35699809 chr6:35699794-35699809 chr6:35699794-35699810 chr6:35699794-35699810 chr6:35699794-35699810 chr6:35699795-35699809
36	HEY1	chr6:35699198-35700715	K562	blood:	n/a	chr6:35699712-35699727 chr6:35699668-35699683
37	POLR2A	chr6:35698623-35700575	SK-N-MC	brain:	n/a	n/a
38	POLR2A	chr6:35699219-35700437	HepG2	liver:	n/a	n/a
39	FOS	chr6:35699645-35700473	HUVEC	blood vessel:	n/a	n/a
40	MAZ	chr6:35698853-35700584	GM12878	blood:	n/a	chr6:35699901-35699911 chr6:35700106-35700113
41	EGR1	chr6:35698747-35700524	HCT-116	colon:	n/a	chr6:35699182-35699195 chr6:35699165-35699175 chr6:35699165-35699178 chr6:35699735-35699749 chr6:35699888-35699898 chr6:35699165-35699178 chr6:35699166-35699175 chr6:35699160-35699182 chr6:35699671-35699680 chr6:35699176-35699189 chr6:35699165-35699178 chr6:35699166-35699176 chr6:35699765-35699779
42	FOXM1	chr6:35699193-35700455	GM12878	blood:	n/a	n/a
43	PML	chr6:35699052-35700501	GM12878	blood:	n/a	n/a
44	CREB1	chr6:35698995-35700506	H1-hESC	embryonic stem cell:	n/a	n/a
45	ZNF263	chr6:35699347-35700434	HEK293-T-REx	kidney:	n/a	chr6:35699900-35699921 chr6:35699894-35699903 chr6:35699829-35699838 chr6:35699914-35699923
46	RELA	chr6:35698989-35700456	GM19193	blood:	n/a	n/a
47	BHLHE40	chr6:35699322-35700512	HepG2	liver:	n/a	n/a
48	POLR2A	chr6:35699033-35700539	GM12878	blood:	n/a	n/a
49	TEAD4	chr6:35699334-35700466	SK-N-SH	brain:	n/a	n/a
50	MAX	chr6:35698864-35700629	HepG2	liver:	n/a	chr6:35699901-35699911 chr6:35700106-35700113

No.	Distal block	Cell Line	Cell type
1	chr6:35435738..35438994-chr6:35698017..35702665,7	K562	blood:
2	chr6:35690475..35697423-chr6:35697728..35703210,15	MCF-7	breast:
3	chr6:35633645..35638870-chr6:35697400..35700718,4	K562	blood:
4	chr6:35686847..35689699-chr6:35698939..35701035,2	MCF-7	breast:
5	chr6:35698147..35700735-chr6:36409443..36412078,3	K562	blood:
6	chr6:35649031..35660636-chr6:35692310..35701686,35	K562	blood:
7	chr20:45985754..45987597-chr6:35699080..35701646,2	MCF-7	breast:
8	chr15:78729827..78730345-chr6:35699757..35700557,2	Hela-S3	cervix:
9	chr6:35699523..35701571-chr6:35711571..35714050,2	K562	blood:
10	chr6:35649127..35664209-chr6:35693738..35704622,45	K562	blood:
11	chr6:35476971..35479724-chr6:35699932..35701695,3	MCF-7	breast:
12	chr6:35699062..35702705-chr6:35703417..35705875,6	MCF-7	breast:
13	chr6:35698792..35701642-chr6:35887137..35889079,2	MCF-7	breast:
14	chr6:35699802..35701633-chr6:35743003..35745229,3	MCF-7	breast:
15	chr6:35465082..35466862-chr6:35699908..35701462,2	MCF-7	breast:
16	chr6:35576641..35579638-chr6:35700327..35702039,2	K562	blood:
17	chr6:35548128..35549662-chr6:35699570..35701770,2	K562	blood:
18	chr6:35682262..35684705-chr6:35698552..35701449,2	K562	blood:
19	chr6:35265561..35267595-chr6:35699405..35701573,2	K562	blood:
20	chr6:35655179..35657311-chr6:35699143..35705251,6	MCF-7	breast:
21	chr6:35537206..35539251-chr6:35700274..35702012,2	K562	blood:
22	chr6:35436180..35438178-chr6:35699810..35702665,3	K562	blood:
23	chr6:35463387..35465037-chr6:35698292..35700559,2	K562	blood:
24	chr6:35500888..35503131-chr6:35698327..35701052,2	MCF-7	breast:

Variant related genes	Relation type
ARMC12	TF binding region
FKBP5	TF binding region
ENSG00000007866	Chromatin interaction
ENSG00000198755	Chromatin interaction
ENSG00000112078	Chromatin interaction
ENSG00000232909	Chromatin interaction
ENSG00000023892	Chromatin interaction
ENSG00000179165	Chromatin interaction
ENSG00000096060	Chromatin interaction
ENSG00000096063	Chromatin interaction
ENSG00000157343	Chromatin interaction
ENSG00000196748	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9462106	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758048	chr6:35463741-35806504	Genic enhancers Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759420	chr6:35463741-35806504	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv602924	chr6:35505311-35750299	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv3430300	chr6:35549151-35959004	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv821646	chr6:35604428-35802594	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv885802	chr6:35621781-35787417	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
7	nsv885803	chr6:35621781-35805133	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv885804	chr6:35621781-35809776	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv428143	chr6:35637083-35806504	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv1028947	chr6:35670521-35714541	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv885805	chr6:35685955-35779879	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv7890	chr6:35692021-35701911	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35698800-35700600	Flanking Active TSS	Dnd41	blood
2	chr6:35698800-35700800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:35699000-35700600	Flanking Active TSS	HMEC	breast
4	chr6:35699400-35700600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr6:35699400-35701800	Enhancers	Spleen	Spleen
6	chr6:35699800-35700600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr6:35699800-35700600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr6:35699800-35700600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:35699800-35700600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:35699800-35700600	Flanking Active TSS	Liver	Liver
11	chr6:35699800-35700600	Flanking Active TSS	Fetal Muscle Trunk	muscle
12	chr6:35699800-35700600	Flanking Active TSS	Fetal Thymus	thymus
13	chr6:35699800-35700600	Flanking Active TSS	NHEK	skin
14	chr6:35699800-35700800	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr6:35699800-35700800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:35699800-35700800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:35700000-35700600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:35700000-35700600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr6:35700000-35700600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr6:35700000-35700600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr6:35700000-35700600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:35700000-35700600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr6:35700000-35700600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:35700000-35700600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr6:35700000-35700600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:35700000-35700600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr6:35700000-35700600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr6:35700000-35700600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr6:35700000-35700600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:35700000-35700600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr6:35700000-35700600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr6:35700000-35700600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:35700000-35700600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr6:35700000-35700600	Flanking Active TSS	Colon Smooth Muscle	Colon
35	chr6:35700000-35700600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr6:35700000-35700600	Flanking Active TSS	Fetal Lung	lung
37	chr6:35700000-35700600	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr6:35700000-35700600	Flanking Active TSS	Placenta	Placenta
39	chr6:35700000-35700600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr6:35700000-35700600	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr6:35700000-35700600	Flanking Active TSS	Right Atrium	heart
42	chr6:35700000-35700600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr6:35700000-35700600	Flanking Active TSS	Stomach Mucosa	stomach
44	chr6:35700000-35700600	Flanking Active TSS	Thymus	Thymus
45	chr6:35700000-35700600	Flanking Active TSS	GM12878-XiMat	blood
46	chr6:35700000-35700600	Flanking Active TSS	Hela-S3	cervix
47	chr6:35700000-35700600	Flanking Active TSS	HUVEC	blood vessel
48	chr6:35700000-35700600	Flanking Active TSS	K562	blood
49	chr6:35700000-35700600	Flanking Active TSS	NH-A	brain
50	chr6:35700000-35700600	Flanking Active TSS	Osteobl	bone

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