Variant report

Variant	rs35948383
Chromosome Location	chr1:153893999-153894000
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No data

Variant related genes	Relation type
ENSG00000143624	Chromatin interaction
ENSG00000272654	Chromatin interaction
ENSG00000143545	Chromatin interaction
ENSG00000143543	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000143621	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	chr1:153866400-153894000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:153878600-153894000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:153891400-153894000	Enhancers	Colon Smooth Muscle	Colon
5	chr1:153891600-153894800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:153891800-153894000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:153891800-153894000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:153891800-153894000	Enhancers	Stomach Mucosa	stomach
9	chr1:153891800-153894400	Flanking Active TSS	Fetal Brain Female	brain
10	chr1:153892200-153894000	Enhancers	Pancreas	Pancrea
11	chr1:153892200-153894000	Enhancers	Psoas Muscle	Psoas
12	chr1:153892200-153894600	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr1:153892400-153894000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:153892400-153894000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr1:153892400-153894000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr1:153892400-153894000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:153892400-153894000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:153892400-153894000	Enhancers	Gastric	stomach
19	chr1:153892400-153894200	Enhancers	Placenta	Placenta
20	chr1:153892400-153894200	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr1:153892400-153894400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:153892400-153894400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:153892400-153894400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:153892400-153894400	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr1:153892400-153894400	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr1:153892400-153894400	Enhancers	Spleen	Spleen
27	chr1:153892400-153894600	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr1:153892400-153894600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr1:153892400-153894600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:153892400-153894600	Transcr. at gene 5' and 3'	Dnd41	blood
31	chr1:153892400-153895000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:153892600-153894000	Enhancers	Left Ventricle	heart
33	chr1:153892600-153894000	Enhancers	HSMM	muscle
34	chr1:153892600-153894000	Flanking Active TSS	NHEK	skin
35	chr1:153892600-153894400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:153892600-153894400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr1:153892600-153894400	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr1:153892600-153894400	Flanking Active TSS	Hela-S3	cervix
39	chr1:153892600-153894800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr1:153892600-153894800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:153892600-153894800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr1:153892800-153894000	Flanking Active TSS	HMEC	breast
43	chr1:153892800-153894200	Enhancers	Primary B cells from peripheral blood	blood
44	chr1:153892800-153894400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:153892800-153894400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr1:153892800-153894600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr1:153892800-153894600	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr1:153892800-153894600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr1:153892800-153894800	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr1:153893000-153894000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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