Variant report

Variant	rs6802912
Chromosome Location	chr3:120054764-120054765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:120054631..120056638-chr3:120066734..120069169,3	K562	blood:
2	chr3:120046370..120050212-chr3:120051068..120055542,4	K562	blood:
3	chr3:120054050..120055684-chr3:120056041..120057735,2	MCF-7	breast:
4	chr3:120003211..120005326-chr3:120052246..120054856,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163428	Chromatin interaction
ENSG00000175697	Chromatin interaction
ENSG00000240661	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57147159	1.00[AMR][1000 genomes]
rs60282320	1.00[AMR][1000 genomes]
rs72952818	1.00[AMR][1000 genomes]
rs72952850	1.00[AMR][1000 genomes]
rs72952852	1.00[AMR][1000 genomes]
rs72952863	1.00[AMR][1000 genomes]
rs72952877	1.00[AMR][1000 genomes]
rs72952884	1.00[AMR][1000 genomes]
rs72954705	1.00[AMR][1000 genomes]
rs72954727	1.00[AMR][1000 genomes]
rs72954733	1.00[AMR][1000 genomes]
rs72954750	1.00[AMR][1000 genomes]
rs72954753	1.00[AMR][1000 genomes]
rs72954777	1.00[AMR][1000 genomes]
rs72954784	1.00[AMR][1000 genomes]
rs72971057	1.00[AMR][1000 genomes]
rs73855256	1.00[AMR][1000 genomes]
rs73855263	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv829698	chr3:119960869-120129126	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120026600-120060800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:120026800-120067200	Weak transcription	Aorta	Aorta
3	chr3:120031000-120055600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:120033200-120060400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:120033200-120060400	Weak transcription	Pancreas	Pancrea
6	chr3:120033200-120067000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:120040400-120055000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:120040400-120056400	Strong transcription	Dnd41	blood
9	chr3:120041000-120056200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr3:120041000-120057400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:120041000-120057400	Weak transcription	Small Intestine	intestine
12	chr3:120041000-120058000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:120041600-120055200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:120042800-120060400	Weak transcription	Gastric	stomach
15	chr3:120042800-120060600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:120043200-120060400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:120044400-120066800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:120044600-120055400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr3:120045200-120066800	Weak transcription	Stomach Mucosa	stomach
20	chr3:120045600-120066800	Weak transcription	Colonic Mucosa	Colon
21	chr3:120045800-120054800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:120045800-120055000	Strong transcription	Primary B cells from cord blood	blood
23	chr3:120045800-120055000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr3:120046600-120055400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr3:120046800-120054800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr3:120046800-120054800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr3:120048400-120066800	Weak transcription	Right Ventricle	heart
28	chr3:120048600-120063000	Weak transcription	HSMMtube	muscle
29	chr3:120048800-120055000	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr3:120050400-120056200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:120050400-120066000	Weak transcription	Fetal Brain Male	brain
32	chr3:120051000-120060600	Weak transcription	Spleen	Spleen
33	chr3:120051000-120063800	Weak transcription	NHLF	lung
34	chr3:120051000-120067000	Weak transcription	Esophagus	oesophagus
35	chr3:120051200-120065600	Weak transcription	HMEC	breast
36	chr3:120051200-120066800	Weak transcription	Psoas Muscle	Psoas
37	chr3:120051200-120066800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr3:120051800-120065600	Weak transcription	Brain Angular Gyrus	brain
39	chr3:120052000-120060400	Weak transcription	Lung	lung
40	chr3:120052000-120060800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:120052400-120056000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr3:120052600-120067000	Weak transcription	Left Ventricle	heart
43	chr3:120052800-120054800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:120052800-120057400	Weak transcription	Brain Hippocampus Middle	brain
45	chr3:120052800-120057600	Weak transcription	Fetal Brain Female	brain
46	chr3:120052800-120064400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr3:120053000-120061200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr3:120053000-120062400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr3:120053000-120062800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr3:120053200-120055000	Weak transcription	Brain Anterior Caudate	brain

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