Variant report

Variant	rs528265221
Chromosome Location	chr9:15421808-15421809
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr9:15421763-15421870	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr9:15421755-15421986	K562	blood:	n/a	n/a
3	POLR2A	chr9:15421333-15423424	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr9:15421614-15423876	MCF10A-Er-Src	breast:	n/a	n/a
5	SREBP1	chr9:15421604-15423364	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:15421340..15424109-chr9:15510012..15511838,2	K562	blood:
2	chr9:15276373..15278004-chr9:15420785..15422574,2	MCF-7	breast:
3	chr9:15306135..15309581-chr9:15420818..15425516,6	MCF-7	breast:
4	chr9:15298942..15301605-chr9:15420446..15422025,2	MCF-7	breast:
5	chr9:15420595..15424773-chr9:15424796..15433036,11	MCF-7	breast:
6	chr9:15352501..15354066-chr9:15419261..15422025,2	MCF-7	breast:

No data

Variant related genes	Relation type
SNAPC3	TF binding region
ENSG00000251834	Chromatin interaction
ENSG00000164985	Chromatin interaction
ENSG00000155158	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517975	chr9:15286446-15534070	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv892625	chr9:15326251-16064850	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1030287	chr9:15332709-15458001	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv892626	chr9:15389610-15694690	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv892627	chr9:15397969-15909450	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv831520	chr9:15404866-15444447	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
7	nsv892628	chr9:15420805-15528290	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15417000-15422000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:15417000-15422000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr9:15417000-15422200	Weak transcription	Esophagus	oesophagus
4	chr9:15418000-15422000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr9:15418200-15422000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:15418200-15422200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:15420600-15422000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr9:15420600-15422000	Enhancers	Osteobl	bone
9	chr9:15421200-15422000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:15421400-15422000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr9:15421400-15422000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr9:15421400-15422200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:15421400-15422200	Enhancers	Fetal Intestine Small	intestine
14	chr9:15421600-15422000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:15421600-15422000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:15421600-15422000	Enhancers	Fetal Brain Female	brain
17	chr9:15421600-15422000	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr9:15421600-15422200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr9:15421600-15422200	Enhancers	Fetal Stomach	stomach
20	chr9:15421600-15422200	Enhancers	Fetal Thymus	thymus
21	chr9:15421800-15422000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr9:15421800-15422000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr9:15421800-15422000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:15421800-15422000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr9:15421800-15422000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:15421800-15422000	Enhancers	Primary T cells from cord blood	blood
27	chr9:15421800-15422000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr9:15421800-15422000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:15421800-15422000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:15421800-15422000	Enhancers	Adipose Nuclei	Adipose
31	chr9:15421800-15422000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr9:15421800-15422000	Enhancers	Colon Smooth Muscle	Colon
33	chr9:15421800-15422000	Enhancers	Fetal Intestine Large	intestine
34	chr9:15421800-15422000	Enhancers	Fetal Kidney	kidney
35	chr9:15421800-15422000	Enhancers	Fetal Lung	lung
36	chr9:15421800-15422000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr9:15421800-15422000	Active TSS	Stomach Smooth Muscle	stomach
38	chr9:15421800-15422000	Enhancers	A549	lung
39	chr9:15421800-15422000	Enhancers	Hela-S3	cervix
40	chr9:15421800-15422000	Enhancers	HepG2	liver
41	chr9:15421800-15422000	Enhancers	HMEC	breast
42	chr9:15421800-15422000	Enhancers	K562	blood
43	chr9:15421800-15422000	Enhancers	NHEK	skin
44	chr9:15421800-15422200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr9:15421800-15422200	Enhancers	Primary T cells fromperipheralblood	blood
46	chr9:15421800-15422200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr9:15421800-15422200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr9:15421800-15422200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr9:15421800-15422200	Enhancers	Fetal Heart	heart
50	chr9:15421800-15422200	Enhancers	Fetal Muscle Leg	muscle

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