Variant report

Variant	rs575298721
Chromosome Location	chr1:153960532-153960533
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:153959341..153960872-chr1:154191508..154193330,2	MCF-7	breast:
2	chr1:153956669..153960770-chr1:153962921..153965060,7	MCF-7	breast:
3	chr1:153754805..153756401-chr1:153959056..153960876,2	K562	blood:
4	chr1:153959573..153961568-chr1:154154463..154157194,2	MCF-7	breast:
5	chr1:153893510..153896669-chr1:153958441..153960611,3	K562	blood:

Variant related genes	Relation type
ENSG00000177954	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000143614	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000143549	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	esv3453878	chr1:153960428-153962010	Weak transcription	Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153958600-153962800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:153958800-153962600	Weak transcription	Lung	lung
3	chr1:153958800-153962600	Weak transcription	Spleen	Spleen
4	chr1:153958800-153962800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:153959000-153962600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:153959200-153962600	Weak transcription	Pancreas	Pancrea
7	chr1:153959200-153963200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:153959200-153963200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:153959400-153961400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:153959400-153962600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:153959400-153962600	Weak transcription	Placenta	Placenta
12	chr1:153959400-153962800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:153959400-153963200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:153959600-153962400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:153959600-153962400	Weak transcription	Brain Germinal Matrix	brain
16	chr1:153959600-153962400	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:153959600-153962600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:153959600-153962600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:153959600-153962600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:153959600-153962600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:153959600-153962600	Weak transcription	Fetal Brain Male	brain
22	chr1:153959600-153962800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:153959600-153962800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:153959600-153962800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:153959600-153962800	Weak transcription	Adipose Nuclei	Adipose
26	chr1:153959600-153962800	Weak transcription	Liver	Liver
27	chr1:153959600-153962800	Weak transcription	Brain Angular Gyrus	brain
28	chr1:153959600-153962800	Weak transcription	Colonic Mucosa	Colon
29	chr1:153959600-153962800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:153959600-153962800	Weak transcription	Fetal Kidney	kidney
31	chr1:153959600-153962800	Weak transcription	Fetal Lung	lung
32	chr1:153959600-153962800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:153959600-153962800	Weak transcription	HSMM	muscle
34	chr1:153959600-153962800	Weak transcription	HUVEC	blood vessel
35	chr1:153959600-153962800	Weak transcription	Osteobl	bone
36	chr1:153959600-153963000	Weak transcription	Fetal Heart	heart
37	chr1:153959800-153962400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:153959800-153962400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr1:153959800-153962400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:153959800-153962400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:153959800-153962400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:153959800-153962400	Weak transcription	Dnd41	blood
43	chr1:153959800-153962400	Weak transcription	K562	blood
44	chr1:153959800-153962600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:153959800-153962600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:153959800-153962600	Weak transcription	Brain Anterior Caudate	brain
47	chr1:153959800-153962600	Weak transcription	Fetal Muscle Leg	muscle
48	chr1:153959800-153962600	Weak transcription	Fetal Stomach	stomach
49	chr1:153959800-153962600	Weak transcription	A549	lung
50	chr1:153959800-153962600	Weak transcription	NHLF	lung

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