Variant report

Variant	rs2326367
Chromosome Location	chr6:3978705-3978706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:187)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:187 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:3978509-3978841	GM10266	blood:	n/a	n/a
2	POLR2A	chr6:3978469-3979085	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr6:3978521-3978815	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr6:3978560-3978710	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr6:3978395-3978933	K562	blood:	n/a	n/a
6	MAFK	chr6:3978531-3978845	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr6:3978600-3978750	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr6:3978379-3978968	A549	lung:	n/a	n/a
9	RAD21	chr6:3978288-3979058	A549	lung:	n/a	n/a
10	RAD21	chr6:3978323-3978840	MCF-7	breast:	n/a	n/a
11	ZNF384	chr6:3978556-3978748	K562	blood:	n/a	n/a
12	HCFC1	chr6:3978628-3978806	K562	blood:	n/a	n/a
13	CTCF	chr6:3978531-3978823	LNCaP	prostate:	n/a	n/a
14	ZNF143	chr6:3978485-3978857	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr6:3978600-3978750	Caco-2	colon:	n/a	n/a
16	CTCF	chr6:3978600-3978750	HEK293	kidney:	n/a	n/a
17	CTCF	chr6:3978446-3978920	H1-hESC	embryonic stem cell:	n/a	n/a
18	SMC3	chr6:3978412-3978933	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr6:3978580-3978730	GM12865	blood:	n/a	n/a
20	ZNF143	chr6:3978429-3978836	GM12878	blood:	n/a	n/a
21	CTCF	chr6:3978507-3978798	NHEK	skin:	n/a	n/a
22	CTCF	chr6:3978441-3978831	A549	lung:	n/a	n/a
23	CTCF	chr6:3978485-3978859	A549	lung:	n/a	n/a
24	RAD21	chr6:3978505-3978923	ECC-1	luminal epithelium:	n/a	n/a
25	CTCF	chr6:3978498-3978849	ProgFib	skin:	n/a	n/a
26	CTCF	chr6:3978521-3978779	MCF-7	breast:	n/a	n/a
27	CTCF	chr6:3978443-3978931	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr6:3978475-3978887	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr6:3978560-3978710	GM12874	blood:	n/a	n/a
30	RAD21	chr6:3978442-3978911	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr6:3978580-3978730	BE2_C	brain:	n/a	n/a
32	CTCF	chr6:3978600-3978750	HRPEpiC	eye:	n/a	n/a
33	CTCF	chr6:3978211-3979051	HCT-116	colon:	n/a	n/a
34	CTCF	chr6:3978560-3978710	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr6:3978580-3978730	HEK293	kidney:	n/a	n/a
36	CTCF	chr6:3978560-3978710	GM12867	blood:	n/a	n/a
37	RAD21	chr6:3978432-3978859	GM12878	blood:	n/a	n/a
38	RAD21	chr6:3978395-3978894	ECC-1	luminal epithelium:	n/a	n/a
39	CTCF	chr6:3978580-3978730	HRE	kidney:	n/a	n/a
40	CTCF	chr6:3978495-3978846	A549	lung:	n/a	n/a
41	RAD21	chr6:3978479-3978812	K562	blood:	n/a	n/a
42	CTCF	chr6:3978560-3978710	GM12864	blood:	n/a	n/a
43	CTCF	chr6:3978504-3978865	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr6:3978600-3978750	AG09319	gingival:	n/a	n/a
45	STAT3	chr6:3978501-3978830	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr6:3978600-3978750	AG04449	skin:	n/a	n/a
47	RCOR1	chr6:3978512-3978815	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr6:3978473-3978882	MCF-7	breast:	n/a	n/a
49	CTCF	chr6:3978527-3978822	GM19239	blood:	n/a	n/a
50	FOS	chr6:3978501-3978996	HUVEC	blood vessel:	n/a	chr6:3978743-3978754

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:3911159..3912996-chr6:3978169..3980419,2	MCF-7	breast:
2	chr6:3849010..3850044-chr6:3978089..3979083,3	K562	blood:
3	chr6:3933091..3933884-chr6:3978339..3978864,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145965	TF binding region
ENSG00000145945	Chromatin interaction
ENSG00000260604	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11242894	0.89[ASN][1000 genomes]
rs12194597	0.88[ASN][1000 genomes]
rs62394161	0.95[ASN][1000 genomes]
rs6925753	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6931746	0.98[EUR][1000 genomes]
rs7775663	0.84[EUR][1000 genomes]
rs9378393	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9378831	0.86[JPT][hapmap]
rs9392539	0.88[ASN][1000 genomes]
rs9392542	0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532020	chr6:3417520-4140257	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:3964800-3987400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:3974800-3980000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:3976400-3990800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:3976600-3979200	Enhancers	NH-A	brain
5	chr6:3976600-3979400	Enhancers	HUVEC	blood vessel
6	chr6:3977400-3978800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:3977600-3979800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:3978000-3979000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:3978200-3978800	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:3978200-3978800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr6:3978200-3979000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:3978200-3979000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:3978200-3979000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:3978200-3979000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:3978200-3979000	Enhancers	HSMM	muscle
16	chr6:3978200-3979200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:3978200-3979400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:3978200-3979400	Enhancers	Adipose Nuclei	Adipose
19	chr6:3978200-3980000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:3978200-3980000	Enhancers	NHDF-Ad	bronchial
21	chr6:3978200-3980000	Enhancers	NHLF	lung
22	chr6:3978400-3978800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr6:3978400-3978800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr6:3978400-3978800	Enhancers	HepG2	liver
25	chr6:3978400-3979000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr6:3978400-3979000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr6:3978400-3979000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:3978400-3979200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr6:3978400-3979400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:3978400-3987200	Weak transcription	Fetal Muscle Leg	muscle
31	chr6:3978600-3978800	Enhancers	Fetal Stomach	stomach
32	chr6:3978600-3978800	Enhancers	Ovary	ovary
33	chr6:3978600-3978800	Enhancers	Osteobl	bone
34	chr6:3978600-3979000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr6:3978600-3979000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr6:3978600-3979000	Enhancers	Colon Smooth Muscle	Colon
37	chr6:3978600-3979000	Enhancers	A549	lung
38	chr6:3978600-3986800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:3978600-3991000	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr6:3978600-3991000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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