Variant report

Variant	rs117549994
Chromosome Location	chr4:148703838-148703839
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	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
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	esv3414867	chr4:148703352-148707250	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148694800-148708400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:148695400-148707400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:148695600-148706400	Weak transcription	Fetal Stomach	stomach
4	chr4:148697000-148706400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:148698200-148708800	Weak transcription	Pancreas	Pancrea
6	chr4:148698800-148708400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:148699400-148708200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:148699800-148706600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:148700800-148708000	Weak transcription	Right Ventricle	heart
10	chr4:148701600-148706400	Weak transcription	Thymus	Thymus
11	chr4:148701600-148706600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:148701800-148704000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr4:148701800-148716800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:148702000-148706400	Weak transcription	Fetal Thymus	thymus
15	chr4:148702000-148707200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:148702000-148707400	Weak transcription	Gastric	stomach
17	chr4:148702000-148707400	Weak transcription	Psoas Muscle	Psoas
18	chr4:148702000-148707800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:148702000-148709600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr4:148702000-148710200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:148702000-148714600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:148702200-148707000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:148702200-148707000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:148702200-148707400	Weak transcription	Aorta	Aorta
25	chr4:148702200-148707400	Weak transcription	Lung	lung
26	chr4:148702200-148707400	Weak transcription	Right Atrium	heart
27	chr4:148702400-148706400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:148702600-148706600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr4:148703000-148704000	Enhancers	HUVEC	blood vessel
30	chr4:148703200-148704000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:148703200-148704000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:148703200-148704000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr4:148703200-148704000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:148703200-148704000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:148703200-148704000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:148703200-148704000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:148703200-148704000	Enhancers	Colon Smooth Muscle	Colon
38	chr4:148703200-148704000	Enhancers	Fetal Muscle Leg	muscle
39	chr4:148703200-148704000	Enhancers	Rectal Smooth Muscle	rectum
40	chr4:148703200-148704000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr4:148703200-148704000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr4:148703200-148704000	Enhancers	NHLF	lung
43	chr4:148703200-148704000	Enhancers	Osteobl	bone
44	chr4:148703400-148704000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:148703400-148704000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr4:148703400-148704000	Enhancers	Fetal Intestine Small	intestine
47	chr4:148703400-148706400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr4:148703600-148704000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:148703600-148704000	Enhancers	GM12878-XiMat	blood
50	chr4:148703600-148704000	Enhancers	HSMM	muscle

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