Variant report

Variant	rs1281114
Chromosome Location	chr4:8190726-8190727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8189772..8192369-chr4:8193436..8194981,2	K562	blood:
2	chr4:8179921..8181904-chr4:8189631..8192248,3	MCF-7	breast:
3	chr4:8182727..8185014-chr4:8188504..8191136,2	MCF-7	breast:
4	chr4:8189199..8191768-chr4:8203536..8206206,2	MCF-7	breast:
5	chr4:8185955..8187715-chr4:8189243..8191885,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125089	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1078701	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1281115	1.00[CEU][hapmap]
rs1281118	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1281119	0.85[EUR][1000 genomes]
rs1281120	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1281123	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1678261	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1678262	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1678310	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs3115217	1.00[CEU][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878591	chr4:8063501-8207083	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv878593	chr4:8125788-8233341	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv461216	chr4:8154534-8276411	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv593626	chr4:8154534-8276411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv470012	chr4:8171401-8233341	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv878596	chr4:8171401-8254784	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv878597	chr4:8171401-8294196	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8185200-8202600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:8185600-8192800	Weak transcription	HSMMtube	muscle
3	chr4:8186200-8191200	Enhancers	Hela-S3	cervix
4	chr4:8187600-8190800	Enhancers	Osteobl	bone
5	chr4:8187600-8192800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:8187800-8190800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:8187800-8195000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:8188200-8191800	Enhancers	NHDF-Ad	bronchial
9	chr4:8188200-8192600	Weak transcription	HSMM	muscle
10	chr4:8188200-8192600	Weak transcription	NH-A	brain
11	chr4:8188400-8191400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:8189200-8190800	Enhancers	HepG2	liver
13	chr4:8189200-8193600	Enhancers	Stomach Mucosa	stomach
14	chr4:8189600-8190800	Enhancers	HMEC	breast
15	chr4:8189600-8191600	Enhancers	NHEK	skin
16	chr4:8189600-8192000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr4:8189600-8192000	Enhancers	Gastric	stomach
18	chr4:8189600-8192800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:8189600-8193000	Enhancers	Duodenum Mucosa	Duodenum
20	chr4:8189600-8193600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:8189600-8199200	Enhancers	HUVEC	blood vessel
22	chr4:8189800-8191000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:8189800-8192000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr4:8189800-8192800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:8189800-8193000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr4:8189800-8193600	Enhancers	Left Ventricle	heart
27	chr4:8189800-8193600	Enhancers	Right Ventricle	heart
28	chr4:8189800-8193600	Enhancers	NHLF	lung
29	chr4:8189800-8194000	Enhancers	Primary hematopoietic stem cells	blood
30	chr4:8189800-8194000	Enhancers	Fetal Muscle Leg	muscle
31	chr4:8190000-8191800	Enhancers	Pancreas	Pancrea
32	chr4:8190000-8193000	Enhancers	Lung	lung
33	chr4:8190000-8193600	Enhancers	Adipose Nuclei	Adipose
34	chr4:8190000-8193600	Enhancers	Esophagus	oesophagus
35	chr4:8190200-8190800	Enhancers	Psoas Muscle	Psoas
36	chr4:8190200-8191800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr4:8190200-8192000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:8190200-8192000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:8190200-8192000	Enhancers	Right Atrium	heart
40	chr4:8190200-8192600	Enhancers	Stomach Smooth Muscle	stomach
41	chr4:8190200-8193000	Enhancers	Brain Cingulate Gyrus	brain
42	chr4:8190200-8193000	Enhancers	Brain Hippocampus Middle	brain
43	chr4:8190200-8193000	Weak transcription	A549	lung
44	chr4:8190200-8200400	Enhancers	Fetal Thymus	thymus
45	chr4:8190400-8191000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:8190400-8191200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr4:8190400-8191400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:8190400-8191600	Enhancers	Brain Anterior Caudate	brain
49	chr4:8190400-8191600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr4:8190400-8191800	Bivalent Enhancer	Placenta	Placenta

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