Variant report

Variant	rs189896410
Chromosome Location	chr1:153894097-153894098
allele	A/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 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	chr1:153642898..153644985-chr1:153891363..153894144,2	K562	blood:
4	chr1:153746879..153748867-chr1:153894033..153896594,2	K562	blood:
5	chr1:153774428..153778178-chr1:153892159..153894443,3	MCF-7	breast:
6	chr1:153883515..153885221-chr1:153892964..153894776,3	MCF-7	breast:
7	chr1:153858652..153861331-chr1:153892093..153894371,2	MCF-7	breast:
8	chr1:153699430..153701547-chr1:153893565..153895608,2	MCF-7	breast:
9	chr1:153893510..153896669-chr1:153958441..153960611,3	K562	blood:
10	chr1:153890756..153897034-chr1:153961597..153964863,14	K562	blood:
11	chr1:153892664..153896587-chr1:153948190..153951187,6	K562	blood:
12	chr1:153892719..153895039-chr1:153953793..153956278,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143543	Chromatin interaction
ENSG00000143545	Chromatin interaction
ENSG00000143621	Chromatin interaction
ENSG00000143624	Chromatin interaction
ENSG00000143554	Chromatin interaction
ENSG00000272654	Chromatin interaction
ENSG00000177954	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	chr1:153846200-153894200	Weak transcription	Esophagus	oesophagus
2	chr1:153891600-153894800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:153891800-153894400	Flanking Active TSS	Fetal Brain Female	brain
4	chr1:153892200-153894600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr1:153892400-153894200	Enhancers	Placenta	Placenta
6	chr1:153892400-153894200	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr1:153892400-153894400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:153892400-153894400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:153892400-153894400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:153892400-153894400	Flanking Active TSS	Brain Angular Gyrus	brain
11	chr1:153892400-153894400	Flanking Active TSS	Brain Germinal Matrix	brain
12	chr1:153892400-153894400	Enhancers	Spleen	Spleen
13	chr1:153892400-153894600	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr1:153892400-153894600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr1:153892400-153894600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:153892400-153894600	Transcr. at gene 5' and 3'	Dnd41	blood
17	chr1:153892400-153895000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:153892600-153894400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:153892600-153894400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr1:153892600-153894400	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr1:153892600-153894400	Flanking Active TSS	Hela-S3	cervix
22	chr1:153892600-153894800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr1:153892600-153894800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:153892600-153894800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr1:153892800-153894200	Enhancers	Primary B cells from peripheral blood	blood
26	chr1:153892800-153894400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:153892800-153894400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr1:153892800-153894600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr1:153892800-153894600	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr1:153892800-153894600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr1:153892800-153894800	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr1:153893000-153894200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:153893000-153894200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:153893000-153894200	Flanking Active TSS	Fetal Brain Male	brain
35	chr1:153893000-153894400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:153893000-153894400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr1:153893000-153894600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr1:153893000-153894600	Flanking Active TSS	Fetal Lung	lung
39	chr1:153893000-153894600	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr1:153893000-153894600	Flanking Active TSS	HUVEC	blood vessel
41	chr1:153893200-153894200	Flanking Active TSS	A549	lung
42	chr1:153893200-153894200	Active TSS	GM12878-XiMat	blood
43	chr1:153893200-153894400	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr1:153893200-153894600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr1:153893200-153894600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:153893200-153894600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
47	chr1:153893200-153894800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr1:153893200-153894800	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr1:153893200-153896200	Active TSS	NHDF-Ad	bronchial
50	chr1:153893400-153894200	Enhancers	Placenta Amnion	Placenta Amnion

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