Variant report

Variant	rs551700909
Chromosome Location	chr4:8272573-8272574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv878599	chr4:8195705-8293398	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv593627	chr4:8202211-8311043	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv878600	chr4:8209447-8312158	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
13	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
14	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
15	nsv461218	chr4:8254784-8320126	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
16	nsv593628	chr4:8254784-8320126	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
17	esv3488096	chr4:8270752-8272900	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
18	esv3488098	chr4:8270752-8272900	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
19	nsv593630	chr4:8271251-8280040	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
20	nsv593633	chr4:8271302-8280040	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8270800-8272800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr4:8270800-8273800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr4:8271000-8272600	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr4:8271000-8276400	Enhancers	Spleen	Spleen
5	chr4:8271200-8273400	Active TSS	Rectal Smooth Muscle	rectum
6	chr4:8271400-8273000	Active TSS	Psoas Muscle	Psoas
7	chr4:8271400-8273400	Active TSS	Right Atrium	heart
8	chr4:8271400-8274200	Bivalent/Poised TSS	Colonic Mucosa	Colon
9	chr4:8271600-8272600	Flanking Active TSS	Right Ventricle	heart
10	chr4:8271800-8272600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:8271800-8272600	Active TSS	A549	lung
12	chr4:8271800-8272800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr4:8271800-8273000	Active TSS	HSMMtube	muscle
14	chr4:8271800-8273200	Bivalent/Poised TSS	NHDF-Ad	bronchial
15	chr4:8271800-8273600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
16	chr4:8272000-8272600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chr4:8272000-8272600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
18	chr4:8272000-8272800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:8272000-8272800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:8272000-8272800	Enhancers	Primary B cells from cord blood	blood
21	chr4:8272000-8273000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:8272000-8273200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
23	chr4:8272000-8273400	Flanking Active TSS	Colon Smooth Muscle	Colon
24	chr4:8272000-8273400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
25	chr4:8272000-8273400	Bivalent/Poised TSS	HSMM	muscle
26	chr4:8272000-8273600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:8272000-8273600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
28	chr4:8272200-8272600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:8272200-8272600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:8272200-8272600	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
31	chr4:8272200-8272600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:8272200-8272600	Bivalent Enhancer	Esophagus	oesophagus
33	chr4:8272200-8272600	Flanking Active TSS	Fetal Heart	heart
34	chr4:8272200-8272600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
35	chr4:8272200-8272800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:8272200-8272800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:8272200-8272800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:8272200-8272800	Bivalent Enhancer	Brain Hippocampus Middle	brain
39	chr4:8272200-8273200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
40	chr4:8272200-8273200	Bivalent Enhancer	Stomach Mucosa	stomach
41	chr4:8272200-8273400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
42	chr4:8272200-8273400	Weak transcription	Gastric	stomach
43	chr4:8272200-8273600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
44	chr4:8272200-8273800	Weak transcription	Pancreas	Pancrea
45	chr4:8272400-8272600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:8272400-8272600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr4:8272400-8272600	Flanking Bivalent TSS/Enh	Placenta	Placenta
48	chr4:8272400-8272600	Bivalent Enhancer	Fetal Thymus	thymus
49	chr4:8272400-8272800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
50	chr4:8272400-8272800	Flanking Active TSS	Left Ventricle	heart

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