Variant report

Variant	rs113949269
Chromosome Location	chr1:152488212-152488213
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916016	chr1:152337775-152590520	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1014393	chr1:152451935-152491693	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2750810	chr1:152453669-152660927	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1012908	chr1:152464844-152517845	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1005553	chr1:152464844-152519197	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1013357	chr1:152469744-152519184	Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv1798404	chr1:152472839-152587113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv1827111	chr1:152472839-152690073	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	esv1830764	chr1:152472839-152690073	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	esv2757755	chr1:152472839-152898153	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	esv2758970	chr1:152472839-152898153	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv524241	chr1:152484129-152488428	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
13	esv3370335	chr1:152487858-152488250	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152487200-152489600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:152487400-152488400	Active TSS	Esophagus	oesophagus
3	chr1:152487400-152488600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr1:152487600-152488400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:152487600-152488400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:152487600-152488400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:152487600-152488400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
8	chr1:152487600-152488400	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr1:152487600-152488400	Bivalent/Poised TSS	Right Atrium	heart
10	chr1:152487600-152488400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
11	chr1:152487600-152488600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:152487600-152488600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr1:152487600-152488800	Bivalent Enhancer	Liver	Liver
14	chr1:152487800-152488400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:152487800-152488400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:152487800-152488400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
17	chr1:152487800-152488400	Bivalent/Poised TSS	Colonic Mucosa	Colon
18	chr1:152487800-152488400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
19	chr1:152487800-152488400	Bivalent Enhancer	Fetal Brain Male	brain
20	chr1:152487800-152488400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr1:152487800-152488400	Active TSS	HSMM	muscle
22	chr1:152487800-152488400	Active TSS	HSMMtube	muscle
23	chr1:152488000-152488400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:152488000-152488400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
25	chr1:152488000-152488400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
26	chr1:152488000-152488400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
27	chr1:152488000-152488400	Active TSS	A549	lung
28	chr1:152488000-152488600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:152488200-152488400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
30	chr1:152488200-152488400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
31	chr1:152488200-152488400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
32	chr1:152488200-152488400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr1:152488200-152488400	Bivalent Enhancer	Fetal Intestine Large	intestine
34	chr1:152488200-152488400	Enhancers	Ovary	ovary
35	chr1:152488200-152488400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
36	chr1:152488200-152488600	Flanking Active TSS	NHEK	skin
37	chr1:152488200-152489400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr1:152488200-152490200	Enhancers	HMEC	breast

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