Variant report

Variant	rs528296318
Chromosome Location	chr1:10057448-10057449
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10056745..10057479-chr4:1283519..1284439,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000090316	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	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1012301	chr1:9963962-10118393	Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv534853	chr1:9963962-10118393	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1001742	chr1:9971776-10116767	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	esv3394408	chr1:10056190-10058738	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3398287	chr1:10056590-10059138	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 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	chr1:10056600-10057600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
2	chr1:10056600-10058400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr1:10056800-10058200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
4	chr1:10056800-10058400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr1:10056800-10058400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr1:10056800-10058400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:10056800-10058400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:10056800-10058400	Enhancers	Liver	Liver
9	chr1:10056800-10058400	Active TSS	Brain Anterior Caudate	brain
10	chr1:10056800-10058400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr1:10056800-10059000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:10057000-10057600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
13	chr1:10057000-10057600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
14	chr1:10057000-10057600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
15	chr1:10057000-10057600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:10057000-10057600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:10057000-10057600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:10057000-10057600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr1:10057000-10057600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr1:10057000-10057600	Flanking Bivalent TSS/Enh	HMEC	breast
21	chr1:10057000-10057800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
22	chr1:10057000-10058000	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:10057000-10058000	Active TSS	Aorta	Aorta
24	chr1:10057000-10058000	Active TSS	Stomach Smooth Muscle	stomach
25	chr1:10057000-10058000	Bivalent/Poised TSS	Osteobl	bone
26	chr1:10057000-10058200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:10057000-10058200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr1:10057000-10058200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:10057000-10058200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:10057000-10058200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:10057000-10058200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr1:10057000-10058200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:10057000-10058200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:10057000-10058200	Active TSS	Brain Substantia Nigra	brain
35	chr1:10057000-10058200	Bivalent Enhancer	Fetal Brain Male	brain
36	chr1:10057000-10058200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr1:10057000-10058200	Bivalent/Poised TSS	Thymus	Thymus
38	chr1:10057000-10058200	Bivalent/Poised TSS	A549	lung
39	chr1:10057000-10058200	Bivalent/Poised TSS	HepG2	liver
40	chr1:10057000-10058200	Bivalent/Poised TSS	HSMM	muscle
41	chr1:10057000-10058400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr1:10057000-10058400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr1:10057000-10058400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr1:10057000-10058400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr1:10057000-10058400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:10057000-10058400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:10057000-10058400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
48	chr1:10057000-10058400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
49	chr1:10057000-10058400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
50	chr1:10057000-10058400	Active TSS	Left Ventricle	heart

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