Variant report

Variant	rs189948193
Chromosome Location	chr2:54454319-54454320
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54448522..54450800-chr2:54452364..54454802,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1000652	chr2:54345892-54469703	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv1009828	chr2:54393122-54488721	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv525086	chr2:54432222-54459211	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv532512	chr2:54453210-54630755	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr2:54387800-54457400	Weak transcription	Aorta	Aorta
2	chr2:54442200-54456400	Weak transcription	Liver	Liver
3	chr2:54448600-54459400	Weak transcription	Esophagus	oesophagus
4	chr2:54448800-54459400	Weak transcription	HSMM	muscle
5	chr2:54449800-54535200	Weak transcription	Primary T cells from cord blood	blood
6	chr2:54450200-54454600	Weak transcription	Gastric	stomach
7	chr2:54450200-54455800	Weak transcription	Psoas Muscle	Psoas
8	chr2:54451600-54459400	Weak transcription	Left Ventricle	heart
9	chr2:54452400-54468000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:54452800-54490200	Weak transcription	Primary B cells from cord blood	blood
11	chr2:54453000-54456800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:54453200-54454400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:54453600-54454600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:54453600-54455000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:54453600-54455000	Weak transcription	Fetal Heart	heart
16	chr2:54453600-54455800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:54453600-54459000	Weak transcription	HMEC	breast
18	chr2:54453800-54456000	Weak transcription	Fetal Kidney	kidney
19	chr2:54453800-54456200	Weak transcription	Osteobl	bone
20	chr2:54453800-54460400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:54453800-54466200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:54454000-54455000	Weak transcription	Fetal Lung	lung
23	chr2:54454000-54455000	Weak transcription	HepG2	liver
24	chr2:54454000-54455200	Weak transcription	Adipose Nuclei	Adipose
25	chr2:54454000-54455800	Weak transcription	Ovary	ovary
26	chr2:54454000-54456000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:54454000-54456000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:54454000-54456000	Weak transcription	Brain Anterior Caudate	brain
29	chr2:54454200-54454600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:54454200-54455000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr2:54454200-54455800	Weak transcription	Brain Substantia Nigra	brain
32	chr2:54454200-54456200	Weak transcription	Brain Cingulate Gyrus	brain

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