Variant report

Variant	rs6675983
Chromosome Location	chr1:155619088-155619089
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155247122..155248750-chr1:155618012..155619696,2	MCF-7	breast:
2	chr1:155615343..155618275-chr1:155618571..155621306,3	MCF-7	breast:
3	chr1:155617094..155622195-chr1:155655063..155661292,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176444	Chromatin interaction
ENSG00000132676	Chromatin interaction
ENSG00000163374	Chromatin interaction
ENSG00000143630	Chromatin interaction

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

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

rs_ID	r²[population]
rs2136918	0.93[AFR][1000 genomes]
rs2175390	0.97[AFR][1000 genomes]
rs2686266	0.95[AFR][1000 genomes]
rs348187	0.95[AFR][1000 genomes]
rs348195	0.84[AFR][1000 genomes]
rs348198	0.84[AFR][1000 genomes]
rs487216	0.92[AFR][1000 genomes]
rs4971094	0.90[AFR][1000 genomes]
rs4971096	0.91[AFR][1000 genomes]
rs4971098	0.97[AFR][1000 genomes]
rs525240	0.95[AFR][1000 genomes]
rs536192	0.95[AFR][1000 genomes]
rs589431	0.97[AFR][1000 genomes]
rs601103	0.97[AFR][1000 genomes]
rs602905	0.95[AFR][1000 genomes]
rs651905	0.92[AFR][1000 genomes]
rs662116	0.88[AFR][1000 genomes]
rs7524742	0.95[AFR][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	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases
4	esv3388968	chr1:155532335-155658278	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv436522	chr1:155559513-155674249	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv946419	chr1:155561148-155630744	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	esv3360339	chr1:155562157-155683127	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv547965	chr1:155563152-155688600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	esv3381327	chr1:155582853-155718436	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
12	esv3436971	chr1:155618172-155733386	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	esv3338099	chr1:155618190-155733359	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155607400-155621200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:155614000-155621000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:155615200-155621600	Weak transcription	Aorta	Aorta
4	chr1:155615400-155628600	Weak transcription	Right Ventricle	heart
5	chr1:155615600-155628400	Weak transcription	Left Ventricle	heart
6	chr1:155615600-155628400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:155615800-155620400	Weak transcription	Lung	lung
8	chr1:155616000-155628200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:155616200-155620800	Weak transcription	Fetal Brain Male	brain
10	chr1:155616400-155628800	Weak transcription	Small Intestine	intestine
11	chr1:155617000-155628400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:155617200-155620000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:155617400-155622000	Enhancers	Placenta	Placenta
14	chr1:155617800-155637000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:155618400-155619200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:155618400-155619200	Enhancers	HMEC	breast
17	chr1:155618600-155620400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:155618600-155621200	Weak transcription	Fetal Brain Female	brain
19	chr1:155618600-155628000	Weak transcription	Fetal Thymus	thymus
20	chr1:155618800-155619200	Enhancers	NHEK	skin
21	chr1:155618800-155619600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:155618800-155619800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:155618800-155619800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:155618800-155620000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:155618800-155620000	Weak transcription	Adipose Nuclei	Adipose
26	chr1:155618800-155620000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:155618800-155620000	Weak transcription	NHDF-Ad	bronchial
28	chr1:155618800-155620400	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr1:155618800-155620400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:155618800-155620400	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:155618800-155620400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:155618800-155620400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:155618800-155620600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:155618800-155620600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:155618800-155620600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:155618800-155620600	Enhancers	Hela-S3	cervix
37	chr1:155618800-155621200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:155618800-155621200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:155618800-155621400	Weak transcription	Brain Anterior Caudate	brain
40	chr1:155618800-155621600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr1:155618800-155627000	Weak transcription	Fetal Stomach	stomach
42	chr1:155618800-155628000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:155618800-155628000	Weak transcription	Brain Germinal Matrix	brain
44	chr1:155618800-155628400	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:155618800-155628400	Weak transcription	Fetal Lung	lung
46	chr1:155618800-155628800	Weak transcription	Colonic Mucosa	Colon
47	chr1:155618800-155631800	Weak transcription	K562	blood
48	chr1:155619000-155619600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:155619000-155619800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:155619000-155619800	Enhancers	Monocytes-CD14+_RO01746	blood

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