Variant report

Variant	rs9386511
Chromosome Location	chr6:106542233-106542234
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:106541612-106543827	A549	lung:	n/a	n/a
2	POLR2A	chr6:106542207-106542399	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:106532733..106534262-chr6:106541012..106542765,2	K562	blood:
2	chr6:106538067..106540230-chr6:106542190..106543690,2	K562	blood:
3	chr6:106536107..106537996-chr6:106540835..106542937,2	K562	blood:

Variant related genes	Relation type
PRDM1	TF binding region
ENSG00000057657	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12663005	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17558727	1.00[AMR][1000 genomes]
rs17558797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2185379	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3890556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6913893	0.81[AMR][1000 genomes]
rs9373830	0.85[AMR][1000 genomes]
rs9384600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9398059	0.85[AMR][1000 genomes]
rs9398063	1.00[AMR][1000 genomes]
rs9398065	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9398066	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025231	chr6:106451012-106634389	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv830755	chr6:106461705-106624202	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv1832544	chr6:106539914-106642993	Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106536200-106545800	Weak transcription	Spleen	Spleen
2	chr6:106536400-106545200	Weak transcription	HSMMtube	muscle
3	chr6:106536400-106545600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:106537000-106543400	Weak transcription	NHEK	skin
5	chr6:106537000-106545000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:106537200-106545200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:106537400-106544200	Weak transcription	Dnd41	blood
8	chr6:106537400-106544400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:106537400-106545000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:106537400-106545200	Weak transcription	Psoas Muscle	Psoas
11	chr6:106537400-106545200	Weak transcription	HSMM	muscle
12	chr6:106537800-106545600	Weak transcription	Lung	lung
13	chr6:106538000-106545200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:106538200-106545400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:106538400-106543200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr6:106538600-106543000	Weak transcription	NH-A	brain
17	chr6:106538600-106543600	Strong transcription	Fetal Intestine Large	intestine
18	chr6:106538600-106544400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:106538600-106544800	Weak transcription	NHLF	lung
20	chr6:106538600-106545000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:106538600-106545000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:106538800-106543200	Weak transcription	A549	lung
23	chr6:106538800-106544200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr6:106538800-106544400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:106539200-106542400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:106539200-106543600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:106539200-106545000	Weak transcription	HMEC	breast
28	chr6:106539200-106545200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:106539200-106545400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:106539200-106545400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:106540400-106542400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr6:106540400-106542400	Weak transcription	Fetal Intestine Small	intestine
33	chr6:106540400-106543600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr6:106540400-106545400	Weak transcription	Esophagus	oesophagus
35	chr6:106540600-106542400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr6:106540600-106544200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:106540600-106544800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr6:106540600-106545000	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr6:106540800-106544400	Weak transcription	Adipose Nuclei	Adipose
40	chr6:106540800-106544600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr6:106541000-106543600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:106541000-106544800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:106541200-106543600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:106541200-106544600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr6:106541200-106545000	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr6:106541400-106543000	Enhancers	Primary B cells from cord blood	blood
47	chr6:106541400-106545000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr6:106541600-106542800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr6:106541800-106542400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:106541800-106542800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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