Variant report

Variant	rs2766537
Chromosome Location	chr6:35696886-35696887
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	CTCF	chr6:35696880-35697030	SAEC	small airway:	n/a	chr6:35696989-35696999 chr6:35696988-35697001 chr6:35696986-35697004 chr6:35696981-35697002
2	RCOR1	chr6:35696864-35697126	Hela-S3	cervix:	n/a	n/a
3	MAZ	chr6:35695231-35696927	K562	blood:	n/a	chr6:35695448-35695457 chr6:35695446-35695459 chr6:35696104-35696114 chr6:35696104-35696114 chr6:35696095-35696111 chr6:35695448-35695457 chr6:35695448-35695457 chr6:35695729-35695738
4	MAX	chr6:35693558-35696986	NB4	blood:	n/a	chr6:35694277-35694286 chr6:35695448-35695457 chr6:35695446-35695459 chr6:35696104-35696114 chr6:35696104-35696114 chr6:35694622-35694632 chr6:35696095-35696111 chr6:35693859-35693870 chr6:35695448-35695457 chr6:35695448-35695457 chr6:35695729-35695738
5	FOS	chr6:35696690-35697020	MCF10A-Er-Src	breast:	n/a	n/a
6	CTCF	chr6:35696860-35697010	HRE	kidney:	n/a	chr6:35696989-35696999 chr6:35696988-35697001 chr6:35696986-35697004 chr6:35696981-35697002
7	POLR2A	chr6:35693020-35697342	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr6:35695865-35697210	MCF10A-Er-Src	breast:	n/a	chr6:35696639-35696651 chr6:35696881-35696892 chr6:35696471-35696483 chr6:35696883-35696892 chr6:35696868-35696891 chr6:35696883-35696891 chr6:35696882-35696891 chr6:35696877-35696897
9	FOS	chr6:35696742-35696979	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr6:35694773-35697330	K562	blood:	n/a	n/a
11	FOS	chr6:35696712-35697018	MCF10A-Er-Src	breast:	n/a	n/a
12	EBF1	chr6:35696808-35697173	GM12878	blood:	n/a	n/a
13	EBF1	chr6:35695818-35697125	GM12878	blood:	n/a	n/a
14	RUNX3	chr6:35695481-35697044	GM12878	blood:	n/a	chr6:35696592-35696601 chr6:35696592-35696601 chr6:35695996-35696011 chr6:35696585-35696600
15	POLR2A	chr6:35693124-35697882	PBDE	blood:	n/a	n/a
16	JUN	chr6:35693405-35697136	K562	blood:	n/a	chr6:35694459-35694467 chr6:35694277-35694287 chr6:35694274-35694285 chr6:35694620-35694629 chr6:35695509-35695518
17	POLR2A	chr6:35695182-35696940	HL-60	blood:	n/a	n/a
18	POLR2A	chr6:35696726-35697098	HepG2	liver:	n/a	n/a
19	MTA3	chr6:35694836-35696987	GM12878	blood:	n/a	n/a
20	CTCF	chr6:35696880-35697030	BE2_C	brain:	n/a	chr6:35696989-35696999 chr6:35696988-35697001 chr6:35696986-35697004 chr6:35696981-35697002
21	POLR2A	chr6:35693164-35697148	MCF10A-Er-Src	breast:	n/a	n/a
22	NR3C1	chr6:35696581-35697058	A549	lung:	n/a	chr6:35696859-35696872
23	POLR2A	chr6:35694709-35697080	A549	lung:	n/a	n/a
24	CTCF	chr6:35696880-35697030	RPTEC	kidney:	n/a	chr6:35696989-35696999 chr6:35696988-35697001 chr6:35696986-35697004 chr6:35696981-35697002
25	STAT3	chr6:35696656-35697134	MCF10A-Er-Src	breast:	n/a	chr6:35696881-35696892 chr6:35696883-35696892 chr6:35696868-35696891 chr6:35696883-35696891 chr6:35696882-35696891 chr6:35696877-35696897
26	TBP	chr6:35696655-35696982	H1-hESC	embryonic stem cell:	n/a	n/a
27	STAT3	chr6:35693608-35697050	MCF10A-Er-Src	breast:	n/a	chr6:35696639-35696651 chr6:35695504-35695516 chr6:35696881-35696892 chr6:35696471-35696483 chr6:35696883-35696892 chr6:35693619-35693631 chr6:35693661-35693673 chr6:35696868-35696891 chr6:35696883-35696891 chr6:35696882-35696891 chr6:35696877-35696897
28	MYC	chr6:35695697-35697025	MCF10A-Er-Src	breast:	n/a	chr6:35696104-35696114 chr6:35696104-35696114 chr6:35696095-35696111 chr6:35695729-35695738
29	CTCF	chr6:35696843-35697163	GM12878	blood:	n/a	chr6:35696989-35696999 chr6:35696988-35697001 chr6:35696986-35697004 chr6:35696981-35697002
30	RAD21	chr6:35696875-35697152	H1-hESC	embryonic stem cell:	n/a	chr6:35696987-35697000 chr6:35696984-35697003 chr6:35696988-35697002
31	CTCF	chr6:35696860-35697010	Hela-S3	cervix:	n/a	chr6:35696989-35696999 chr6:35696988-35697001 chr6:35696986-35697004 chr6:35696981-35697002
32	NR3C1	chr6:35696610-35697044	A549	lung:	n/a	chr6:35696859-35696872
33	CTCF	chr6:35696840-35696990	HCT-116	colon:	n/a	n/a
34	CTCF	chr6:35696860-35697010	GM12874	blood:	n/a	chr6:35696989-35696999 chr6:35696988-35697001 chr6:35696986-35697004 chr6:35696981-35697002
35	CTCF	chr6:35696880-35697030	GM12873	blood:	n/a	chr6:35696989-35696999 chr6:35696988-35697001 chr6:35696986-35697004 chr6:35696981-35697002
36	POLR2A	chr6:35695120-35697263	Raji	blood:	n/a	n/a
37	POLR2A	chr6:35694189-35697115	SK-N-MC	brain:	n/a	n/a
38	POLR2A	chr6:35696635-35697277	A549	lung:	n/a	n/a
39	STAT5A	chr6:35695212-35696928	GM12878	blood:	n/a	chr6:35696639-35696651 chr6:35695504-35695516 chr6:35696471-35696483 chr6:35696883-35696892 chr6:35696868-35696891 chr6:35696883-35696891 chr6:35696882-35696891 chr6:35696877-35696897
40	FOS	chr6:35696706-35696971	MCF10A-Er-Src	breast:	n/a	n/a
41	RAD21	chr6:35696744-35697182	H1-hESC	embryonic stem cell:	n/a	chr6:35696987-35697000 chr6:35696984-35697003 chr6:35696988-35697002
42	MAZ	chr6:35696831-35697030	HepG2	liver:	n/a	n/a
43	CTCF	chr6:35696860-35697010	A549	lung:	n/a	chr6:35696989-35696999 chr6:35696988-35697001 chr6:35696986-35697004 chr6:35696981-35697002
44	CTCF	chr6:35696880-35697030	Hela-S3	cervix:	n/a	chr6:35696989-35696999 chr6:35696988-35697001 chr6:35696986-35697004 chr6:35696981-35697002
45	STAT3	chr6:35696650-35697110	MCF10A-Er-Src	breast:	n/a	chr6:35696881-35696892 chr6:35696883-35696892 chr6:35696868-35696891 chr6:35696883-35696891 chr6:35696882-35696891 chr6:35696877-35696897
46	HMGN3	chr6:35696729-35697125	K562	blood:	n/a	n/a
47	SMARCB1	chr6:35695133-35697133	Hela-S3	cervix:	n/a	n/a
48	ELF1	chr6:35696521-35697167	GM12878	blood:	n/a	n/a
49	POLR2A	chr6:35695072-35697139	K562	blood:	n/a	n/a
50	MYC	chr6:35693522-35697071	MCF10A-Er-Src	breast:	n/a	chr6:35694277-35694286 chr6:35695448-35695457 chr6:35695446-35695459 chr6:35696104-35696114 chr6:35696104-35696114 chr6:35694622-35694632 chr6:35696095-35696111 chr6:35693859-35693870 chr6:35695448-35695457 chr6:35695448-35695457 chr6:35695729-35695738

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:35696870-35696920	GM12891	blood:	n/a
2	chr6:35696870-35696920	BE2_C	brain:	n/a
3	chr6:35696870-35696920	ovcar-3	ovarian:	n/a
4	chr6:35696870-35696920	AG04449	skin:	fetal
5	chr6:35696870-35696920	AoSMC	blood vessel:	n/a
6	chr6:35696870-35696920	HAEpiC	amniotic membrane:	n/a
7	chr6:35696870-35696920	HMEC	breast:	n/a
8	chr6:35696870-35696920	LNCaP	prostate:	n/a
9	chr6:35696870-35696920	SAEC	small airway:	n/a
10	chr6:35696870-35696920	GM12892	blood:	n/a
11	chr6:35696870-35696920	SKMC	muscle:	n/a
12	chr6:35696870-35696920	BJ	skin:	n/a
13	chr6:35696870-35696920	MCF10A-Er-Src	breast:	n/a
14	chr6:35696870-35696920	Hela-S3	cervix:	n/a
15	chr6:35696870-35696920	Caco-2	colon:	n/a
16	chr6:35696870-35696920	HCT-116	colon:	n/a
17	chr6:35696870-35696920	IMR90	lung:	fetal
18	chr6:35696870-35696920	CMK	blood:	n/a
19	chr6:35696870-35696920	ECC-1	luminal epithelium:	n/a
20	chr6:35696870-35696920	HEK293	kidney:	embryo
21	chr6:35696870-35696920	T-47D	breast:	n/a
22	chr6:35696870-35696920	Jurkat	blood:	n/a
23	chr6:35696870-35696920	NT2-D1	testis:	n/a
24	chr6:35696870-35696920	AG09319	gingival:	n/a
25	chr6:35696870-35696920	HCM	heart:	n/a
26	chr6:35696870-35696920	AG10803	skin:	n/a
27	chr6:35696870-35696920	GM12878	blood:	n/a
28	chr6:35696870-35696920	HNPCEpiC	eye:	n/a
29	chr6:35696870-35696920	HCPEpiC	choroid plexus:	n/a
30	chr6:35696870-35696920	GM06990	blood:	n/a
31	chr6:35696870-35696920	PANC-1	pancreas:	n/a
32	chr6:35696870-35696920	PFSK-1	brain:	n/a
33	chr6:35696870-35696920	NB4	blood:	n/a
34	chr6:35696870-35696920	HRCEpiC	kidney:	n/a
35	chr6:35696870-35696920	HIPEpiC	eye:	n/a
36	chr6:35696870-35696920	HepG2	liver:	n/a
37	chr6:35696870-35696920	HUVEC	blood vessel:	n/a
38	chr6:35696870-35696920	GM19239	blood:	n/a
39	chr6:35696870-35696920	NHBE	bronchial:	n/a
40	chr6:35696870-35696920	NHDF-neo	bronchial:	n/a
41	chr6:35696870-35696920	SK-N-SH	brain:	n/a
42	chr6:35696870-35696920	HCF	heart:	n/a
43	chr6:35696870-35696920	RPTEC	kidney:	n/a
44	chr6:35696870-35696920	HRPEpiC	eye:	n/a
45	chr6:35696870-35696920	AG09309	skin:	n/a
46	chr6:35696870-35696920	ProgFib	skin:	n/a
47	chr6:35696870-35696920	PrEC	prostate:	n/a
48	chr6:35696870-35696920	HEEpiC	esophagus:	n/a
49	chr6:35696870-35696920	MCF-7	breast:	n/a
50	chr6:35696870-35696920	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:35435945..35437939-chr6:35694170..35698146,4	MCF-7	breast:
2	chr10:74925555..74927727-chr6:35696116..35698997,2	K562	blood:
3	chr6:35649031..35660636-chr6:35692310..35701686,35	K562	blood:
4	chr6:35649127..35664209-chr6:35693738..35704622,45	K562	blood:
5	chr6:35632044..35634360-chr6:35695498..35697741,2	K562	blood:
6	chr6:35464241..35466956-chr6:35695881..35700309,4	MCF-7	breast:
7	chr6:35654560..35658324-chr6:35694292..35699560,11	MCF-7	breast:
8	chr6:35465223..35467694-chr6:35696445..35698937,2	K562	blood:
9	chr6:35551325..35552296-chr6:35696466..35697031,2	MCF-7	breast:
10	chr6:35653875..35657933-chr6:35692950..35698749,12	MCF-7	breast:
11	chr6:35668653..35671140-chr6:35695541..35697338,2	K562	blood:

Variant related genes	Relation type
FKBP5	TF binding region
FKBP5	CpG island
ENSG00000122882	Chromatin interaction
ENSG00000096060	Chromatin interaction
ENSG00000223063	Chromatin interaction
ENSG00000265527	Chromatin interaction
ENSG00000198755	Chromatin interaction
ENSG00000007866	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2766533	0.81[EUR][1000 genomes]
rs2766535	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2817033	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35690800-35699400	Weak transcription	Ovary	ovary
2	chr6:35691200-35698400	Enhancers	Lung	lung
3	chr6:35693000-35697400	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr6:35693000-35697800	Enhancers	Gastric	stomach
5	chr6:35693000-35699200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:35693200-35697000	Flanking Active TSS	Fetal Thymus	thymus
7	chr6:35693200-35697200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:35693200-35697200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:35693200-35697200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr6:35695000-35697000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:35695200-35697400	Enhancers	Fetal Heart	heart
12	chr6:35695800-35697200	Enhancers	Aorta	Aorta
13	chr6:35695800-35698000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr6:35695800-35698000	Enhancers	Spleen	Spleen
15	chr6:35695800-35698600	Enhancers	Primary hematopoietic stem cells	blood
16	chr6:35695800-35698600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:35695800-35698600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:35695800-35698800	Enhancers	Primary T cells from cord blood	blood
19	chr6:35695800-35698800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr6:35695800-35699000	Enhancers	HMEC	breast
21	chr6:35696000-35697000	Flanking Active TSS	Dnd41	blood
22	chr6:35696000-35697200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:35696000-35697200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr6:35696000-35697200	Flanking Active TSS	NHEK	skin
25	chr6:35696000-35697400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr6:35696000-35697800	Flanking Active TSS	HepG2	liver
27	chr6:35696000-35698000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:35696000-35699600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr6:35696200-35697200	Flanking Active TSS	Colonic Mucosa	Colon
30	chr6:35696200-35697200	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr6:35696200-35697200	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr6:35696200-35697200	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr6:35696200-35697400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr6:35696200-35697800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr6:35696200-35699000	Enhancers	Right Atrium	heart
36	chr6:35696200-35699400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr6:35696400-35697000	Bivalent Enhancer	Fetal Intestine Small	intestine
38	chr6:35696400-35697000	Enhancers	HUVEC	blood vessel
39	chr6:35696400-35697200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:35696400-35697200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr6:35696400-35697200	Enhancers	Fetal Stomach	stomach
42	chr6:35696400-35697400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:35696400-35697400	Enhancers	Brain Germinal Matrix	brain
44	chr6:35696400-35697400	Enhancers	Fetal Lung	lung
45	chr6:35696400-35697800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:35696400-35697800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:35696400-35698000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:35696400-35698000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:35696400-35698000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr6:35696400-35698000	Enhancers	Brain Inferior Temporal Lobe	brain

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