Variant report

Variant	rs6808409
Chromosome Location	chr3:179093616-179093617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr3:179092384-179093682	K562	blood:	n/a	chr3:179092821-179092833 chr3:179092488-179092505
2	TAL1	chr3:179092414-179094667	K562	blood:	n/a	n/a
3	CEBPB	chr3:179092726-179093947	K562	blood:	n/a	n/a
4	ZMIZ1	chr3:179092775-179093683	K562	blood:	n/a	n/a
5	MAFF	chr3:179092834-179093772	K562	blood:	n/a	n/a
6	GATA1	chr3:179092252-179094675	K562	blood:	n/a	chr3:179092364-179092372
7	ARID3A	chr3:179092316-179094003	K562	blood:	n/a	n/a
8	SMARCA4	chr3:179092350-179094657	K562	blood:	n/a	n/a
9	POLR2A	chr3:179093473-179093958	GM12878	blood:	n/a	n/a
10	TBL1XR1	chr3:179092811-179094581	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:179063024..179065671-chr3:179091035..179093973,2	MCF-7	breast:
2	chr3:179064557..179066120-chr3:179092517..179094482,2	K562	blood:
3	chr3:179084224..179087088-chr3:179091546..179094198,2	K562	blood:
4	chr3:179039914..179042763-chr3:179093091..179095772,2	K562	blood:
5	chr3:179086643..179089572-chr3:179091684..179094466,2	K562	blood:
6	chr3:179091706..179094557-chr3:179279302..179280943,2	K562	blood:
7	chr3:179039675..179042065-chr3:179092135..179094105,2	K562	blood:

No data

Variant related genes	Relation type
MFN1	TF binding region
ENSG00000136518	Chromatin interaction
ENSG00000171109	Chromatin interaction
ENSG00000121864	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10592	0.87[AMR][1000 genomes]
rs13313931	0.87[AMR][1000 genomes]
rs6779649	0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6780301	0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6785443	1.00[EUR][1000 genomes]
rs6791769	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6795513	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7355960	0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7356002	0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7615773	1.00[EUR][1000 genomes]
rs9809536	0.93[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9814990	1.00[EUR][1000 genomes]
rs9816934	0.93[YRI][hapmap];0.87[AMR][1000 genomes]
rs9820636	0.94[YRI][hapmap];0.87[AMR][1000 genomes]
rs9821850	0.87[AMR][1000 genomes]
rs9837183	0.81[AFR][1000 genomes]
rs9869905	0.80[AFR][1000 genomes]
rs9877945	0.86[YRI][hapmap]
rs9883260	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	52 gene(s)	inside rSNPs	diseases
3	esv3354111	chr3:178833305-179156908	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv1002962	chr3:178943753-179224548	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv536815	chr3:178943753-179224548	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1003021	chr3:178944806-179246179	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1006584	chr3:178944822-179241429	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv829806	chr3:178952363-179154373	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv471116	chr3:178968634-179252263	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv592650	chr3:178968634-179252263	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv1010513	chr3:178976107-179196274	Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv536816	chr3:178976107-179196274	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv1003514	chr3:178990037-179177029	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179066400-179136600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:179066800-179104200	Weak transcription	Fetal Heart	heart
3	chr3:179066800-179113600	Weak transcription	Stomach Mucosa	stomach
4	chr3:179066800-179118800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:179067000-179097600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:179067000-179099800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr3:179067000-179099800	Strong transcription	HSMM	muscle
8	chr3:179067200-179131200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:179067800-179099600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:179068000-179099600	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr3:179068600-179099800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:179070600-179120000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:179072000-179098000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:179075800-179095400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:179076400-179110600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr3:179080000-179094400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:179080200-179099800	Strong transcription	Fetal Thymus	thymus
18	chr3:179081400-179138000	Weak transcription	Colonic Mucosa	Colon
19	chr3:179081600-179095800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:179081600-179095800	Weak transcription	Small Intestine	intestine
21	chr3:179081600-179096000	Weak transcription	Brain Germinal Matrix	brain
22	chr3:179081600-179096800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:179081600-179096800	Weak transcription	Pancreas	Pancrea
24	chr3:179081600-179113400	Weak transcription	Gastric	stomach
25	chr3:179081600-179115200	Weak transcription	Spleen	Spleen
26	chr3:179081600-179120400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:179082200-179094600	Weak transcription	HepG2	liver
28	chr3:179084000-179096000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:179084000-179167200	Weak transcription	Fetal Brain Male	brain
30	chr3:179084600-179104000	Weak transcription	A549	lung
31	chr3:179084800-179096800	Weak transcription	Brain Angular Gyrus	brain
32	chr3:179085000-179095400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:179085000-179095400	Weak transcription	Esophagus	oesophagus
34	chr3:179085400-179094800	Weak transcription	HSMMtube	muscle
35	chr3:179085400-179096200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr3:179085400-179096200	Weak transcription	Colon Smooth Muscle	Colon
37	chr3:179085400-179104400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:179085400-179111400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr3:179087200-179095400	Weak transcription	Fetal Brain Female	brain
40	chr3:179087200-179096200	Weak transcription	Brain Anterior Caudate	brain
41	chr3:179087200-179096800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr3:179087200-179122800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr3:179087600-179095800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:179087600-179096400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr3:179087600-179120000	Weak transcription	Right Ventricle	heart
46	chr3:179088400-179141800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr3:179088600-179095400	Weak transcription	Fetal Intestine Small	intestine
48	chr3:179088600-179095400	Weak transcription	Fetal Stomach	stomach
49	chr3:179088600-179095400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr3:179088600-179095600	Weak transcription	Lung	lung

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