Variant report

Variant	rs6485757
Chromosome Location	chr11:47519574-47519575
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PRDM1	chr11:47519435-47519630	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47519377..47521750-chr11:47574004..47575986,3	MCF-7	breast:
2	chr11:47517872..47519954-chr11:47520784..47523581,2	MCF-7	breast:
3	chr11:47514295..47515805-chr11:47517805..47520286,2	K562	blood:
4	chr11:47518015..47520556-chr11:47534048..47536473,2	K562	blood:
5	chr11:47517168..47520094-chr11:47522959..47526818,3	K562	blood:
6	chr11:47513499..47515830-chr11:47517805..47520309,4	K562	blood:
7	chr11:47517666..47520467-chr11:47541808..47545502,3	K562	blood:

No data

Variant related genes	Relation type
CELF1	TF binding region
ENSG00000149187	Chromatin interaction
ENSG00000270072	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10160313	1.00[AFR][1000 genomes]
rs1040199	1.00[AFR][1000 genomes]
rs10769261	1.00[YRI][hapmap]
rs10769273	1.00[AFR][1000 genomes]
rs2020057	1.00[YRI][hapmap]
rs2233358	1.00[AFR][1000 genomes]
rs2868603	1.00[YRI][hapmap]
rs35920762	1.00[AFR][1000 genomes]
rs4752982	1.00[YRI][hapmap]
rs4752991	1.00[YRI][hapmap]
rs4752995	1.00[YRI][hapmap]
rs6485754	1.00[YRI][hapmap]
rs7105005	1.00[YRI][hapmap]
rs7116487	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7118918	1.00[AFR][1000 genomes]
rs7121406	0.83[AFR][1000 genomes]
rs7932169	1.00[AFR][1000 genomes]
rs7933674	1.00[AFR][1000 genomes]
rs7940413	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs963331	1.00[YRI][hapmap]
rs9666418	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs967829	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47489200-47522800	Strong transcription	Fetal Thymus	thymus
2	chr11:47505600-47521600	Weak transcription	Fetal Brain Male	brain
3	chr11:47506400-47521200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:47507000-47528200	Weak transcription	Small Intestine	intestine
5	chr11:47507200-47522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:47508400-47530200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:47508800-47519800	Weak transcription	Gastric	stomach
8	chr11:47508800-47519800	Weak transcription	Right Ventricle	heart
9	chr11:47508800-47521200	Weak transcription	Spleen	Spleen
10	chr11:47508800-47521600	Weak transcription	Fetal Brain Female	brain
11	chr11:47509000-47520000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:47509000-47521200	Weak transcription	Lung	lung
13	chr11:47509000-47534400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:47509200-47521200	Weak transcription	Brain Germinal Matrix	brain
15	chr11:47509200-47530400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:47510000-47521200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:47510200-47521000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:47510200-47536800	Weak transcription	Fetal Kidney	kidney
19	chr11:47510600-47519800	Weak transcription	Left Ventricle	heart
20	chr11:47510600-47519800	Weak transcription	Pancreas	Pancrea
21	chr11:47510800-47529800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:47511000-47520000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr11:47511000-47525000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:47511200-47520600	Weak transcription	Stomach Mucosa	stomach
25	chr11:47511200-47528600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr11:47513000-47525000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:47513200-47519600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:47513200-47523000	Strong transcription	Dnd41	blood
29	chr11:47513400-47519600	Strong transcription	Primary B cells from cord blood	blood
30	chr11:47513400-47521800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr11:47513400-47528400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:47513600-47521200	Strong transcription	Primary T cells from cord blood	blood
33	chr11:47513800-47523000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr11:47514200-47520600	Strong transcription	A549	lung
35	chr11:47514400-47522800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr11:47514800-47521000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:47515600-47520400	Strong transcription	Thymus	Thymus
38	chr11:47515600-47528200	Weak transcription	NH-A	brain
39	chr11:47516000-47519600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:47516000-47520000	Weak transcription	HMEC	breast
41	chr11:47516000-47521200	Weak transcription	Fetal Lung	lung
42	chr11:47516200-47520200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:47516400-47523000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr11:47516600-47519600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr11:47516800-47519600	Weak transcription	Fetal Intestine Small	intestine
46	chr11:47516800-47519800	Weak transcription	Ovary	ovary
47	chr11:47516800-47519800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr11:47516800-47521000	Enhancers	Psoas Muscle	Psoas
49	chr11:47516800-47521400	Weak transcription	NHLF	lung
50	chr11:47516800-47522200	Weak transcription	Placenta	Placenta

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