Variant report

Variant	rs148968049
Chromosome Location	chr4:55124862-55124863
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking 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	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1011682	chr4:55103816-55128149	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
4	nsv997422	chr4:55104743-55132489	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1008497	chr4:55115691-55128149	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	diseases
6	nsv1004408	chr4:55124471-55179212	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv537099	chr4:55124471-55179212	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55117200-55129600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:55118000-55129800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:55119000-55127200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:55119000-55138600	Weak transcription	Fetal Intestine Small	intestine
5	chr4:55119400-55148000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:55120400-55126800	Weak transcription	Fetal Stomach	stomach
7	chr4:55120600-55129600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:55120800-55125800	Weak transcription	Fetal Lung	lung
9	chr4:55121000-55147600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:55121000-55153200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:55121200-55125000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:55121200-55125400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:55121200-55130400	Weak transcription	Fetal Kidney	kidney
14	chr4:55121200-55133400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:55121200-55147200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:55121600-55125000	Weak transcription	Osteobl	bone
17	chr4:55121600-55128600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:55122400-55125000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:55122400-55133400	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:55122400-55142600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr4:55124400-55125000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:55124400-55125000	Weak transcription	NHDF-Ad	bronchial
23	chr4:55124400-55125200	Enhancers	NHLF	lung
24	chr4:55124400-55140400	Weak transcription	Placenta	Placenta
25	chr4:55124400-55147800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:55124800-55125000	Enhancers	Aorta	Aorta
27	chr4:55124800-55125000	Bivalent Enhancer	HUVEC	blood vessel
28	chr4:55124800-55125200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:55124800-55125400	Genic enhancers	Ovary	ovary
30	chr4:55124800-55125600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:55124800-55134000	Weak transcription	Fetal Brain Male	brain
32	chr4:55124800-55138600	Weak transcription	NH-A	brain

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