Variant report

Variant	rs6928357
Chromosome Location	chr6:100913553-100913554
allele	A/C
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	CTCF	chr6:100913440-100913590	HPF	lung:	n/a	n/a
2	CTCF	chr6:100913420-100913570	AG04449	skin:	n/a	n/a
3	POLR2A	chr6:100912882-100916388	H1-neurons	neurons:	n/a	n/a
4	CTCF	chr6:100913460-100913610	NHDF-neo	bronchial:	n/a	n/a
5	SUZ12	chr6:100910832-100914607	NT2-D1	testis:	n/a	n/a
6	SUZ12	chr6:100912951-100915101	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr6:100913500-100913650	HFF	foreskin:	n/a	n/a
8	POLR2A	chr6:100912776-100916575	H1-neurons	neurons:	n/a	n/a
9	TCF12	chr6:100913461-100913834	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr6:100913440-100913590	AG10803	skin:	n/a	n/a
11	CTCF	chr6:100913440-100913590	BJ	skin:	n/a	n/a

Variant related genes	Relation type
SIM1	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17060639	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798486	0.90[EUR][1000 genomes]
rs3811076	0.95[EUR][1000 genomes]
rs58927095	0.90[AFR][1000 genomes]
rs6907007	0.82[AFR][1000 genomes]
rs6907169	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6934173	0.82[AFR][1000 genomes]
rs6942018	0.90[AFR][1000 genomes]
rs7755091	0.90[AFR][1000 genomes]
rs9322060	0.92[AFR][1000 genomes]
rs9485075	0.90[AFR][1000 genomes]
rs9485089	0.81[AFR][1000 genomes]
rs9485091	0.82[AFR][1000 genomes]
rs9485097	0.82[AFR][1000 genomes]
rs9485098	0.82[AFR][1000 genomes]
rs9497562	0.82[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	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1028122	chr6:100774245-100964347	Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1023710	chr6:100810738-101001115	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv538388	chr6:100810738-101001115	Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:100902000-100913600	Active TSS	Psoas Muscle	Psoas
2	chr6:100906600-100914200	Bivalent/Poised TSS	Fetal Kidney	kidney
3	chr6:100906800-100914400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:100906800-100914600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:100907400-100913600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:100908000-100913600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:100908000-100913800	Bivalent/Poised TSS	NHDF-Ad	bronchial
8	chr6:100908000-100914800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr6:100908400-100913800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:100908600-100913600	Active TSS	HSMMtube	muscle
11	chr6:100908800-100914000	Active TSS	Muscle Satellite Cultured Cells	--
12	chr6:100911000-100914400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr6:100911000-100914600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:100911800-100913600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr6:100911800-100913600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr6:100911800-100913600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
17	chr6:100911800-100914200	ZNF genes & repeats	Spleen	Spleen
18	chr6:100911800-100916000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr6:100912000-100913600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr6:100912000-100913600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
21	chr6:100912000-100913600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:100912000-100913800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr6:100912200-100913600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr6:100912200-100915800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:100912600-100914000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:100912800-100913600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:100912800-100913600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
28	chr6:100913000-100913600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:100913000-100913600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:100913200-100913600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
31	chr6:100913200-100913600	Bivalent Enhancer	Primary B cells from cord blood	blood
32	chr6:100913200-100913600	Bivalent Enhancer	Colon Smooth Muscle	Colon
33	chr6:100913200-100913800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
34	chr6:100913200-100914800	Weak transcription	Gastric	stomach
35	chr6:100913400-100913600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
36	chr6:100913400-100913600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:100913400-100913600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:100913400-100913600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
39	chr6:100913400-100913600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
40	chr6:100913400-100913600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:100913400-100913600	Bivalent Enhancer	Brain Angular Gyrus	brain
42	chr6:100913400-100913600	Bivalent Enhancer	Brain Germinal Matrix	brain
43	chr6:100913400-100913600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr6:100913400-100913600	Bivalent Enhancer	Fetal Heart	heart
45	chr6:100913400-100913600	Bivalent Enhancer	Fetal Lung	lung
46	chr6:100913400-100913600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
47	chr6:100913400-100913600	Bivalent Enhancer	Placenta	Placenta
48	chr6:100913400-100913600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
49	chr6:100913400-100913600	Flanking Active TSS	HSMM	muscle
50	chr6:100913400-100913600	Bivalent/Poised TSS	HUVEC	blood vessel

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