Variant report

Variant	rs788654
Chromosome Location	chr4:119249262-119249263
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119199843..119203968-chr4:119245801..119250116,5	MCF-7	breast:
2	chr4:119246811..119249310-chr4:119251021..119252751,2	K562	blood:

Variant related genes	Relation type
ENSG00000269893	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1022287	1.00[CEU][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes]
rs1022288	1.00[CEU][hapmap]
rs1514657	1.00[CEU][hapmap]
rs4279285	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs4834679	1.00[CEU][hapmap]
rs617140	1.00[CEU][hapmap]
rs705841	1.00[CEU][hapmap]
rs788647	0.82[CEU][hapmap]
rs788650	1.00[CEU][hapmap]
rs788651	1.00[CEU][hapmap]
rs788655	1.00[CEU][hapmap]
rs788656	1.00[CEU][hapmap];0.83[YRI][hapmap]
rs788658	1.00[CEU][hapmap]
rs788668	1.00[CEU][hapmap]
rs883998	1.00[CEU][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS 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	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119202800-119267200	Weak transcription	Stomach Mucosa	stomach
2	chr4:119209600-119258600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:119210000-119259200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:119210200-119258600	Weak transcription	HMEC	breast
5	chr4:119212600-119259200	Weak transcription	NHEK	skin
6	chr4:119216400-119249800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:119220200-119260000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:119229000-119267200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:119237600-119250800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:119239800-119259200	Weak transcription	Fetal Brain Male	brain
11	chr4:119243800-119252800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:119243800-119259000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:119246200-119250400	Enhancers	NHDF-Ad	bronchial
14	chr4:119246400-119250000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr4:119247200-119259200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:119247600-119249400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:119247600-119252600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:119248400-119250000	Enhancers	NHLF	lung
19	chr4:119248600-119249600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:119248600-119250000	Enhancers	Osteobl	bone
21	chr4:119248600-119253600	Weak transcription	Pancreas	Pancrea
22	chr4:119248800-119249400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:119248800-119249600	Enhancers	Colon Smooth Muscle	Colon
24	chr4:119248800-119249800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:119248800-119249800	Enhancers	Fetal Lung	lung
26	chr4:119249000-119249400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:119249000-119249600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:119249200-119249600	Enhancers	Fetal Kidney	kidney

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