Variant report

Variant	rs11751316
Chromosome Location	chr6:4020528-4020529
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr6:4020421-4020733	K562	blood:	n/a	n/a
2	MYC	chr6:4020304-4022486	K562	blood:	n/a	n/a
3	POLR2A	chr6:4020325-4022372	K562	blood:	n/a	n/a
4	ARID3A	chr6:4020502-4020702	K562	blood:	n/a	n/a
5	POLR2A	chr6:4020353-4022370	K562	blood:	n/a	n/a
6	IRF1	chr6:4020329-4020662	K562	blood:	n/a	n/a
7	EP300	chr6:4020344-4020625	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:4020181-4022367	K562	blood:	n/a	n/a
9	HEY1	chr6:4020206-4020611	K562	blood:	n/a	n/a
10	CUX1	chr6:4020410-4020610	K562	blood:	n/a	chr6:4020421-4020435
11	ZNF384	chr6:4019933-4020797	K562	blood:	n/a	n/a
12	POLR2A	chr6:4020060-4020991	K562	blood:	n/a	n/a
13	RCOR1	chr6:4020189-4020540	K562	blood:	n/a	n/a
14	BHLHE40	chr6:4020431-4020618	K562	blood:	n/a	n/a
15	HEY1	chr6:4020377-4020746	K562	blood:	n/a	n/a
16	JUND	chr6:4020432-4020635	K562	blood:	n/a	n/a
17	POLR2A	chr6:4020342-4022148	K562	blood:	n/a	n/a
18	TBL1XR1	chr6:4020354-4020548	K562	blood:	n/a	n/a
19	IRF1	chr6:4020318-4020691	K562	blood:	n/a	n/a
20	ZMIZ1	chr6:4020448-4020648	K562	blood:	n/a	n/a
21	MXI1	chr6:4020413-4023130	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr6:4017528-4022907	K562	blood:	n/a	n/a
23	UBTF	chr6:4020252-4020683	K562	blood:	n/a	n/a
24	POLR2A	chr6:4020291-4022391	K562	blood:	n/a	n/a
25	POLR2A	chr6:4020246-4020781	K562	blood:	n/a	n/a
26	POLR2A	chr6:4020288-4020597	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:4016355..4024618-chr6:4131840..4138381,21	K562	blood:
2	chr6:4017302..4025509-chr6:4131840..4138381,19	K562	blood:
3	chr6:4019656..4024130-chr6:4049502..4053557,5	K562	blood:
4	chr6:3064193..3067093-chr6:4018828..4021333,2	K562	blood:
5	chr6:4020118..4022120-chr6:4056131..4059470,3	K562	blood:
6	chr6:2988870..2991161-chr6:4018285..4020823,2	K562	blood:
7	chr6:3905976..3908467-chr6:4018998..4020679,2	K562	blood:
8	chr6:4020118..4023028-chr6:4056131..4059224,3	K562	blood:

No data

Variant related genes	Relation type
PRPF4B	TF binding region
ENSG00000124588	Chromatin interaction
ENSG00000244041	Chromatin interaction
ENSG00000234817	Chromatin interaction
ENSG00000254821	Chromatin interaction
ENSG00000198721	Chromatin interaction
ENSG00000145975	Chromatin interaction
ENSG00000137275	Chromatin interaction
ENSG00000112739	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13191877	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13191921	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13199114	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13204868	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13205077	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13207795	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13209954	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13214951	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13220367	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2745454	0.85[TSI][hapmap]
rs35539914	0.86[EUR][1000 genomes]
rs35958400	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[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	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4017400-4023000	Active TSS	K562	blood
2	chr6:4019000-4021200	Weak transcription	Gastric	stomach
3	chr6:4019000-4021200	Weak transcription	Spleen	Spleen
4	chr6:4019200-4021000	Weak transcription	Ovary	ovary
5	chr6:4019200-4021200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:4019200-4021200	Weak transcription	Esophagus	oesophagus
7	chr6:4019200-4021200	Weak transcription	Lung	lung
8	chr6:4019200-4021200	Flanking Active TSS	Dnd41	blood
9	chr6:4019400-4020800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr6:4019400-4020800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:4019400-4020800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr6:4019400-4020800	Enhancers	Fetal Heart	heart
13	chr6:4019400-4020800	Weak transcription	Right Ventricle	heart
14	chr6:4019400-4021000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:4019400-4021000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:4019400-4021000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr6:4019400-4021000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:4019400-4021000	Weak transcription	Left Ventricle	heart
19	chr6:4019400-4021000	Weak transcription	Right Atrium	heart
20	chr6:4019400-4021200	Weak transcription	Aorta	Aorta
21	chr6:4019600-4020600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:4019600-4020600	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:4019600-4020600	Enhancers	Colonic Mucosa	Colon
24	chr6:4019600-4020600	Enhancers	Fetal Thymus	thymus
25	chr6:4019600-4020800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr6:4019600-4020800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:4019600-4020800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr6:4019600-4020800	Weak transcription	Brain Angular Gyrus	brain
29	chr6:4019600-4020800	Weak transcription	Brain Anterior Caudate	brain
30	chr6:4019600-4020800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr6:4019600-4020800	Weak transcription	Fetal Brain Male	brain
32	chr6:4019600-4020800	Enhancers	Fetal Muscle Leg	muscle
33	chr6:4019600-4020800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr6:4019600-4020800	Enhancers	Thymus	Thymus
35	chr6:4019600-4020800	Weak transcription	HSMMtube	muscle
36	chr6:4019600-4020800	Weak transcription	Osteobl	bone
37	chr6:4019600-4021000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr6:4019600-4021000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:4019600-4021000	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr6:4019600-4021000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr6:4019600-4021000	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr6:4019600-4021000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr6:4019600-4021200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:4019600-4023000	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr6:4019800-4020600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:4019800-4020600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:4019800-4020600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:4019800-4020600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:4019800-4020600	Enhancers	Fetal Muscle Trunk	muscle
50	chr6:4019800-4020600	Weak transcription	Placenta	Placenta

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