Variant report

Variant	rs2992896
Chromosome Location	chr13:96055954-96055955
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95843500..95844639-chr13:96055881..96056848,6	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2993577	0.85[ASN][1000 genomes]
rs2993578	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043019	chr13:95924585-96152616	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1037673	chr13:95930191-96146554	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541882	chr13:95930191-96146554	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96055000-96056000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr13:96055400-96056000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr13:96055600-96056000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr13:96055600-96056000	Enhancers	Brain Substantia Nigra	brain
5	chr13:96055600-96056800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr13:96055600-96056800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr13:96055600-96056800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr13:96055800-96056000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:96055800-96056000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr13:96055800-96056000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr13:96055800-96056000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:96055800-96056000	Enhancers	Primary T cells from cord blood	blood
13	chr13:96055800-96056000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr13:96055800-96056000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr13:96055800-96056000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:96055800-96056000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:96055800-96056000	Enhancers	Brain Cingulate Gyrus	brain
18	chr13:96055800-96056000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr13:96055800-96056000	Bivalent/Poised TSS	Fetal Brain Female	brain
20	chr13:96055800-96056000	Bivalent Enhancer	Placenta	Placenta
21	chr13:96055800-96056000	Bivalent Enhancer	Fetal Thymus	thymus
22	chr13:96055800-96056000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr13:96055800-96056200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr13:96055800-96056200	Enhancers	Primary hematopoietic stem cells	blood
25	chr13:96055800-96056200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr13:96055800-96056200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr13:96055800-96056200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr13:96055800-96056200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr13:96055800-96056200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr13:96055800-96056200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr13:96055800-96056200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr13:96055800-96056200	Active TSS	Brain Anterior Caudate	brain
33	chr13:96055800-96056200	Enhancers	Colon Smooth Muscle	Colon
34	chr13:96055800-96056200	Enhancers	Fetal Muscle Leg	muscle
35	chr13:96055800-96056200	Enhancers	Stomach Smooth Muscle	stomach
36	chr13:96055800-96056600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr13:96055800-96056600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
38	chr13:96055800-96056600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr13:96055800-96056600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:96055800-96056600	Flanking Active TSS	GM12878-XiMat	blood
41	chr13:96055800-96056800	Active TSS	H9 Cell Line	embryonic stem cell
42	chr13:96055800-96056800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr13:96055800-96056800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr13:96055800-96056800	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr13:96055800-96056800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr13:96055800-96056800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr13:96055800-96056800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr13:96055800-96056800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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