Variant report

Variant	rs9487111
Chromosome Location	chr6:109778468-109778469
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:109776373-109778645	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr6:109774791-109778612	GM12892	blood:	n/a	n/a
3	KAP1	chr6:109777991-109778579	U2OS	brain:	n/a	n/a
4	FOS	chr6:109778338-109778531	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT1	chr6:109778361-109778690	GM12878	blood:	n/a	n/a
6	TBP	chr6:109778078-109778565	GM12878	blood:	n/a	n/a
7	BATF	chr6:109778326-109778643	GM12878	blood:	n/a	n/a
8	MTA3	chr6:109778285-109778836	GM12878	blood:	n/a	n/a
9	POLR2A	chr6:109777723-109778620	GM12892	blood:	n/a	n/a
10	WRNIP1	chr6:109777815-109778641	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:109774418-109779026	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:109775024-109779284	GM12891	blood:	n/a	n/a
13	POLR2A	chr6:109778138-109778485	ProgFib	skin:	n/a	n/a
14	BHLHE40	chr6:109778263-109778670	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:109778132-109779291	SK-N-MC	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:109778433-109778483	AG04450	lung:	fetal
2	chr6:109778433-109778483	HPAEpiC	pulmonary alveolar:	n/a
3	chr6:109778433-109778483	HCT-116	colon:	n/a
4	chr6:109778433-109778483	NT2-D1	testis:	n/a
5	chr6:109778433-109778483	SK-N-SH_RA	brain:	n/a
6	chr6:109778433-109778483	HCM	heart:	n/a
7	chr6:109778433-109778483	ECC-1	luminal epithelium:	n/a
8	chr6:109778433-109778483	GM19239	blood:	n/a
9	chr6:109778433-109778483	SKMC	muscle:	n/a
10	chr6:109778433-109778483	T-47D	breast:	n/a
11	chr6:109778433-109778483	GM12878	blood:	n/a
12	chr6:109778433-109778483	HRE	kidney:	n/a
13	chr6:109778433-109778483	NHDF-neo	bronchial:	n/a
14	chr6:109778433-109778483	PANC-1	pancreas:	n/a
15	chr6:109778433-109778483	ProgFib	skin:	n/a
16	chr6:109778433-109778483	NB4	blood:	n/a
17	chr6:109778433-109778483	GM12892	blood:	n/a
18	chr6:109778433-109778483	HMEC	breast:	n/a
19	chr6:109778433-109778483	HUVEC	blood vessel:	n/a
20	chr6:109778433-109778483	NH-A	brain:	n/a
21	chr6:109778433-109778483	HNPCEpiC	eye:	n/a
22	chr6:109778433-109778483	HCPEpiC	choroid plexus:	n/a
23	chr6:109778433-109778483	HRCEpiC	kidney:	n/a
24	chr6:109778433-109778483	H1-hESC	embryonic stem cell:	embryo
25	chr6:109778433-109778483	SK-N-MC	brain:	n/a
26	chr6:109778433-109778483	HEK293	kidney:	embryo
27	chr6:109778433-109778483	U87	brain:	n/a
28	chr6:109778433-109778483	AoSMC	blood vessel:	n/a
29	chr6:109778433-109778483	MCF10A-Er-Src	breast:	n/a
30	chr6:109778433-109778483	AG10803	skin:	n/a
31	chr6:109778433-109778483	ovcar-3	ovarian:	n/a
32	chr6:109778433-109778483	AG09309	skin:	n/a
33	chr6:109778433-109778483	AG09319	gingival:	n/a
34	chr6:109778433-109778483	AG04449	skin:	fetal
35	chr6:109778433-109778483	GM12891	blood:	n/a
36	chr6:109778433-109778483	HepG2	liver:	n/a
37	chr6:109778433-109778483	BJ	skin:	n/a
38	chr6:109778433-109778483	HRPEpiC	eye:	n/a
39	chr6:109778433-109778483	CMK	blood:	n/a
40	chr6:109778433-109778483	HEEpiC	esophagus:	n/a
41	chr6:109778433-109778483	Hepatocyte	liver:	n/a
42	chr6:109778433-109778483	Caco-2	colon:	n/a
43	chr6:109778433-109778483	LNCaP	prostate:	n/a
44	chr6:109778433-109778483	Hela-S3	cervix:	n/a
45	chr6:109778433-109778483	NHBE	bronchial:	n/a
46	chr6:109778433-109778483	SK-N-SH	brain:	n/a
47	chr6:109778433-109778483	BE2_C	brain:	n/a
48	chr6:109778433-109778483	PrEC	prostate:	n/a
49	chr6:109778433-109778483	MCF-7	breast:	n/a
50	chr6:109778433-109778483	RPTEC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:109703037..109705174-chr6:109776212..109778845,2	K562	blood:

No data

Variant related genes	Relation type
MICAL1	TF binding region
MICAL1	CpG island
ENSG00000260273	Chromatin interaction
ENSG00000135535	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12332859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12333297	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2232447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2232451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9480960	0.90[AFR][1000 genomes]
rs9480964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9487112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9487113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9487114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9487116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9487117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9487118	1.00[AMR][1000 genomes]
rs9487120	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9487121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9487122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9487123	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395145	chr6:109775784-109778832	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109775800-109778800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:109775800-109778800	Active TSS	Psoas Muscle	Psoas
3	chr6:109777200-109778600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr6:109777200-109778800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr6:109777400-109778600	Flanking Active TSS	Primary B cells from peripheral blood	blood
6	chr6:109777400-109778600	Enhancers	Primary T cells from cord blood	blood
7	chr6:109777400-109778600	Flanking Active TSS	Brain Hippocampus Middle	brain
8	chr6:109777400-109778600	Flanking Active TSS	Fetal Thymus	thymus
9	chr6:109777400-109778800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr6:109777400-109778800	Flanking Active TSS	HSMM	muscle
11	chr6:109777400-109778800	Flanking Active TSS	NHEK	skin
12	chr6:109777400-109779000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr6:109777600-109778600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:109777600-109778600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:109777600-109778800	Flanking Active TSS	Fetal Lung	lung
16	chr6:109777600-109778800	Flanking Active TSS	HSMMtube	muscle
17	chr6:109777600-109779000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr6:109777600-109779000	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr6:109777600-109779200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:109777600-109779200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:109777600-109780600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr6:109777600-109780600	Flanking Active TSS	GM12878-XiMat	blood
23	chr6:109777600-109780800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:109777600-109781000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr6:109777600-109781000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:109777600-109782000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr6:109777600-109783200	Weak transcription	Hela-S3	cervix
28	chr6:109777800-109778600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:109777800-109778600	Enhancers	Liver	Liver
30	chr6:109777800-109779000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr6:109777800-109779000	Enhancers	Left Ventricle	heart
32	chr6:109777800-109779000	Enhancers	Right Ventricle	heart
33	chr6:109777800-109779200	Enhancers	Placenta	Placenta
34	chr6:109777800-109779200	Flanking Active TSS	NHDF-Ad	bronchial
35	chr6:109777800-109779800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:109777800-109779800	Weak transcription	Lung	lung
37	chr6:109777800-109780800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr6:109777800-109780800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr6:109777800-109781600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr6:109777800-109782400	Weak transcription	Dnd41	blood
41	chr6:109777800-109786800	Weak transcription	Gastric	stomach
42	chr6:109777800-109786800	Weak transcription	Ovary	ovary
43	chr6:109778000-109778600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:109778000-109778600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:109778000-109778600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:109778000-109778600	Flanking Active TSS	Fetal Intestine Large	intestine
47	chr6:109778000-109778600	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr6:109778000-109778600	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr6:109778000-109778800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr6:109778000-109778800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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