Variant report

Variant	rs34438060
Chromosome Location	chr1:153894495-153894496
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153759800..153761704-chr1:153893842..153895431,2	K562	blood:
2	chr1:153858733..153861625-chr1:153893307..153895024,2	K562	blood:
3	chr1:153746879..153748867-chr1:153894033..153896594,2	K562	blood:
4	chr1:153883515..153885221-chr1:153892964..153894776,3	MCF-7	breast:
5	chr1:153699430..153701547-chr1:153893565..153895608,2	MCF-7	breast:
6	chr1:153893510..153896669-chr1:153958441..153960611,3	K562	blood:
7	chr1:153890756..153897034-chr1:153961597..153964863,14	K562	blood:
8	chr1:153892664..153896587-chr1:153948190..153951187,6	K562	blood:
9	chr1:153892719..153895039-chr1:153953793..153956278,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143554	Chromatin interaction
ENSG00000143545	Chromatin interaction
ENSG00000143543	Chromatin interaction
ENSG00000272654	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000143624	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv531892	chr1:153671910-153954090	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
5	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
6	nsv872450	chr1:153889042-153937513	Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	esv3441037	chr1:153893853-153896701	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	esv3384628	chr1:153893928-153896576	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153891600-153894800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:153892200-153894600	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr1:153892400-153894600	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr1:153892400-153894600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr1:153892400-153894600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:153892400-153894600	Transcr. at gene 5' and 3'	Dnd41	blood
7	chr1:153892400-153895000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:153892600-153894800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr1:153892600-153894800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:153892600-153894800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr1:153892800-153894600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr1:153892800-153894600	Flanking Active TSS	Brain Cingulate Gyrus	brain
13	chr1:153892800-153894600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr1:153892800-153894800	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr1:153893000-153894600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr1:153893000-153894600	Flanking Active TSS	Fetal Lung	lung
17	chr1:153893000-153894600	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr1:153893000-153894600	Flanking Active TSS	HUVEC	blood vessel
19	chr1:153893200-153894600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr1:153893200-153894600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:153893200-153894600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
22	chr1:153893200-153894800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr1:153893200-153894800	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr1:153893200-153896200	Active TSS	NHDF-Ad	bronchial
25	chr1:153893400-153894600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr1:153893400-153894600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr1:153893400-153894600	Flanking Active TSS	Osteobl	bone
28	chr1:153893600-153894600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr1:153893600-153894600	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr1:153893600-153894600	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr1:153893600-153894800	Flanking Active TSS	Liver	Liver
32	chr1:153893600-153894800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr1:153893600-153896400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:153893600-153897000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:153893800-153894800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr1:153893800-153896000	Active TSS	NHLF	lung
37	chr1:153893800-153896200	Active TSS	HSMMtube	muscle
38	chr1:153893800-153896200	Active TSS	K562	blood
39	chr1:153893800-153896400	Active TSS	H1 Cell Line	embryonic stem cell
40	chr1:153893800-153896400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:153893800-153896400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:153893800-153896600	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr1:153893800-153896800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:153893800-153896800	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr1:153893800-153896800	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr1:153893800-153896800	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr1:153893800-153897000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:153893800-153897400	Active TSS	H9 Cell Line	embryonic stem cell
49	chr1:153894000-153894600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:153894000-153894600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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