Variant report

Variant	rs6578920
Chromosome Location	chr11:8060124-8060125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:8059786-8060534	H1-neurons	neurons:	n/a	n/a
2	RCOR1	chr11:8059985-8060216	K562	blood:	n/a	n/a
3	MAX	chr11:8060000-8060289	H1-hESC	embryonic stem cell:	n/a	chr11:8060131-8060140 chr11:8060127-8060136
4	REST	chr11:8059515-8060811	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr11:8059762-8060475	H1-neurons	neurons:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:8060124-8060174	HAEpiC	amniotic membrane:	n/a
2	chr11:8060124-8060174	ECC-1	luminal epithelium:	n/a
3	chr11:8060124-8060174	AG09309	skin:	n/a
4	chr11:8060124-8060174	SAEC	small airway:	n/a
5	chr11:8060124-8060174	NB4	blood:	n/a
6	chr11:8060124-8060174	ProgFib	skin:	n/a
7	chr11:8060124-8060174	HL-60	blood:	n/a
8	chr11:8060124-8060174	GM12892	blood:	n/a
9	chr11:8060124-8060174	Hepatocyte	liver:	n/a
10	chr11:8060124-8060174	HEK293	kidney:	embryo
11	chr11:8060124-8060174	AG09319	gingival:	n/a
12	chr11:8060124-8060174	BE2_C	brain:	n/a
13	chr11:8060124-8060174	Hela-S3	cervix:	n/a
14	chr11:8060124-8060174	MCF-7	breast:	n/a
15	chr11:8060124-8060174	AG10803	skin:	n/a
16	chr11:8060124-8060174	AG04449	skin:	fetal
17	chr11:8060124-8060174	A549	lung:	n/a
18	chr11:8060124-8060174	H1-hESC	embryonic stem cell:	embryo
19	chr11:8060124-8060174	PFSK-1	brain:	n/a
20	chr11:8060124-8060174	HCPEpiC	choroid plexus:	n/a
21	chr11:8060124-8060174	RPTEC	kidney:	n/a
22	chr11:8060124-8060174	U87	brain:	n/a
23	chr11:8060124-8060174	AG04450	lung:	fetal
24	chr11:8060124-8060174	HRE	kidney:	n/a
25	chr11:8060124-8060174	HRCEpiC	kidney:	n/a
26	chr11:8060124-8060174	HUVEC	blood vessel:	n/a
27	chr11:8060124-8060174	BJ	skin:	n/a
28	chr11:8060124-8060174	PANC-1	pancreas:	n/a
29	chr11:8060124-8060174	HepG2	liver:	n/a
30	chr11:8060124-8060174	IMR90	lung:	fetal
31	chr11:8060124-8060174	HRPEpiC	eye:	n/a
32	chr11:8060124-8060174	GM06990	blood:	n/a
33	chr11:8060124-8060174	PrEC	prostate:	n/a
34	chr11:8060124-8060174	GM12878	blood:	n/a
35	chr11:8060124-8060174	HEEpiC	esophagus:	n/a
36	chr11:8060124-8060174	HMEC	breast:	n/a
37	chr11:8060124-8060174	NH-A	brain:	n/a
38	chr11:8060124-8060174	SK-N-SH_RA	brain:	n/a
39	chr11:8060124-8060174	HNPCEpiC	eye:	n/a
40	chr11:8060124-8060174	Caco-2	colon:	n/a
41	chr11:8060124-8060174	Jurkat	blood:	n/a
42	chr11:8060124-8060174	GM12891	blood:	n/a
43	chr11:8060124-8060174	GM19239	blood:	n/a
44	chr11:8060124-8060174	HCF	heart:	n/a
45	chr11:8060124-8060174	HCM	heart:	n/a
46	chr11:8060124-8060174	HPAEpiC	pulmonary alveolar:	n/a
47	chr11:8060124-8060174	MCF10A-Er-Src	breast:	n/a
48	chr11:8060124-8060174	T-47D	breast:	n/a
49	chr11:8060124-8060174	LNCaP	prostate:	n/a
50	chr11:8060124-8060174	K562	blood:	n/a

No data

Variant related genes	Relation type
TUB	TF binding region
TUB	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10839968	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12416828	0.93[EUR][1000 genomes]
rs1950008	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55721562	0.93[EUR][1000 genomes]
rs7112892	0.94[AMR][1000 genomes];0.91[EUR][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	nsv1052808	chr11:8011647-8129191	Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv983216	chr11:8056182-8060154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv972907	chr11:8057411-8061563	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8056800-8061400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:8058000-8067400	Weak transcription	Left Ventricle	heart
3	chr11:8058200-8060800	Weak transcription	Right Ventricle	heart
4	chr11:8059200-8061000	Enhancers	Brain Germinal Matrix	brain
5	chr11:8059400-8061000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr11:8059400-8061200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:8059400-8061400	Enhancers	Fetal Brain Male	brain
8	chr11:8059600-8060800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:8059600-8060800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr11:8059600-8061200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:8059600-8061600	Enhancers	Brain Angular Gyrus	brain
12	chr11:8059800-8060400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:8059800-8060400	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr11:8059800-8060800	Enhancers	Fetal Brain Female	brain
15	chr11:8060000-8060200	Flanking Active TSS	Brain Cingulate Gyrus	brain
16	chr11:8060000-8060400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:8060000-8061200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:8060000-8062800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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