Variant report

Variant	rs6780301
Chromosome Location	chr3:179088815-179088816
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:179086643..179089572-chr3:179091684..179094466,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10592	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13313931	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6779649	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6785443	1.00[EUR][1000 genomes]
rs6791769	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6795513	0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808409	0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7355960	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7356002	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7615773	1.00[EUR][1000 genomes]
rs9809536	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9814990	1.00[EUR][1000 genomes]
rs9816934	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9820636	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9821850	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9869905	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs9877945	0.83[YRI][hapmap]
rs9883260	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];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	chr3:179067200-179089200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:179067200-179089400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:179067200-179089400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr3:179067200-179091200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:179067200-179131200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:179067400-179092200	Strong transcription	Liver	Liver
14	chr3:179067600-179089800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr3:179067800-179089200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:179067800-179089400	Strong transcription	Fetal Intestine Large	intestine
17	chr3:179067800-179090200	Strong transcription	Placenta	Placenta
18	chr3:179067800-179091400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr3:179067800-179099600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:179068000-179089200	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:179068000-179089400	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr3:179068000-179091200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr3:179068000-179091400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:179068000-179099600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr3:179068200-179089400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:179068400-179089000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr3:179068600-179099800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:179069800-179089200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr3:179070600-179120000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr3:179072000-179089400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:179072000-179091200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:179072000-179098000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr3:179072600-179089600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:179074200-179091200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr3:179074400-179089400	Strong transcription	GM12878-XiMat	blood
36	chr3:179075800-179095400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:179076400-179110600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr3:179080000-179094400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr3:179080200-179099800	Strong transcription	Fetal Thymus	thymus
40	chr3:179081400-179138000	Weak transcription	Colonic Mucosa	Colon
41	chr3:179081600-179095800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr3:179081600-179095800	Weak transcription	Small Intestine	intestine
43	chr3:179081600-179096000	Weak transcription	Brain Germinal Matrix	brain
44	chr3:179081600-179096800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:179081600-179096800	Weak transcription	Pancreas	Pancrea
46	chr3:179081600-179113400	Weak transcription	Gastric	stomach
47	chr3:179081600-179115200	Weak transcription	Spleen	Spleen
48	chr3:179081600-179120400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr3:179082200-179094600	Weak transcription	HepG2	liver
50	chr3:179083200-179089400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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