Variant report

Variant	rs552847319
Chromosome Location	chr4:148830793-148830794
allele	A/G
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	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1017904	chr4:148814133-148975348	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1024596	chr4:148830472-148886915	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148786000-148861400	Weak transcription	Pancreas	Pancrea
2	chr4:148796800-148863200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr4:148796800-148866000	Weak transcription	Thymus	Thymus
4	chr4:148797000-148834200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:148797000-148835800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:148797400-148879600	Weak transcription	Gastric	stomach
7	chr4:148804600-148854400	Weak transcription	Psoas Muscle	Psoas
8	chr4:148820600-148833400	Weak transcription	Left Ventricle	heart
9	chr4:148820600-148861200	Weak transcription	Esophagus	oesophagus
10	chr4:148820800-148848800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:148823400-148836600	Weak transcription	Placenta	Placenta
12	chr4:148823600-148831600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:148823600-148833400	Weak transcription	Fetal Stomach	stomach
14	chr4:148823600-148833800	Weak transcription	NHLF	lung
15	chr4:148823600-148834600	Weak transcription	Fetal Intestine Large	intestine
16	chr4:148824400-148831000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:148824400-148842800	Weak transcription	Lung	lung
18	chr4:148824400-148854600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:148824600-148854400	Weak transcription	Right Ventricle	heart
20	chr4:148824800-148833400	Weak transcription	Fetal Intestine Small	intestine
21	chr4:148825000-148834000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:148825000-148836200	Weak transcription	HMEC	breast
23	chr4:148825200-148831600	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:148825200-148834000	Weak transcription	NHDF-Ad	bronchial
25	chr4:148825200-148835400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:148825200-148839600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr4:148825200-148847400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr4:148825200-148848400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:148825400-148832000	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:148825400-148832400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:148825400-148834000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:148825400-148834000	Weak transcription	Osteobl	bone
33	chr4:148825400-148843400	Weak transcription	Fetal Heart	heart
34	chr4:148825400-148844200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr4:148825400-148846200	Weak transcription	Fetal Kidney	kidney
36	chr4:148825400-148861200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr4:148825400-148865800	Weak transcription	Fetal Lung	lung
38	chr4:148826600-148888200	Weak transcription	Fetal Thymus	thymus
39	chr4:148827200-148832000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:148827200-148832800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:148827400-148861200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr4:148827600-148831200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:148827800-148830800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:148827800-148832200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:148828200-148832000	Strong transcription	Adipose Nuclei	Adipose
46	chr4:148828400-148834200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr4:148828400-148836400	Strong transcription	Aorta	Aorta
48	chr4:148828800-148831600	Weak transcription	HUVEC	blood vessel
49	chr4:148828800-148831800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr4:148829000-148834600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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