Variant report

Variant	rs553547332
Chromosome Location	chr2:9769784-9769785
allele	A/G
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	chr2:9693170..9697860-chr2:9768724..9771765,11	MCF-7	breast:
2	chr2:9752399..9758466-chr2:9767981..9772630,10	MCF-7	breast:
3	chr2:9767473..9774138-chr2:9774735..9780659,16	MCF-7	breast:
4	chr2:9562344..9563897-chr2:9768299..9770984,2	K562	blood:
5	chr2:9769329..9772328-chr2:10259369..10262409,6	K562	blood:
6	chr2:9694267..9698929-chr2:9766642..9773016,9	K562	blood:
7	chr2:9767821..9771151-chr2:9909693..9912271,3	MCF-7	breast:
8	chr2:9695084..9698053-chr2:9768518..9772298,6	MCF-7	breast:
9	chr2:9758466..9761411-chr2:9769202..9771087,3	MCF-7	breast:
10	chr2:9769329..9772234-chr2:10259369..10263419,6	K562	blood:
11	chr2:9768532..9771052-chr2:10161123..10163614,2	MCF-7	breast:
12	chr2:9769155..9773590-chr2:9774278..9779571,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000243491	Chromatin interaction
ENSG00000271855	Chromatin interaction
ENSG00000260476	Chromatin interaction
ENSG00000134308	Chromatin interaction
ENSG00000119185	Chromatin interaction
ENSG00000272524	Chromatin interaction
ENSG00000240687	Chromatin interaction
ENSG00000119203	Chromatin interaction
ENSG00000207086	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000151694	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1011802	chr2:9766171-9808284	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv3404576	chr2:9769526-9772474	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9764800-9769800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:9765800-9770400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:9766800-9770600	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr2:9767000-9769800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
5	chr2:9767000-9770400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:9767000-9770600	Transcr. at gene 5' and 3'	A549	lung
7	chr2:9767400-9770200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
8	chr2:9767400-9770600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
9	chr2:9767600-9769800	Transcr. at gene 5' and 3'	Fetal Lung	lung
10	chr2:9767600-9770000	Transcr. at gene 5' and 3'	HMEC	breast
11	chr2:9767800-9769800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
12	chr2:9767800-9770600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:9767800-9771800	Active TSS	Pancreas	Pancrea
14	chr2:9768000-9769800	Weak transcription	Spleen	Spleen
15	chr2:9768000-9770200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:9768000-9771800	Active TSS	Right Ventricle	heart
17	chr2:9768200-9770200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:9768200-9770400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:9768200-9770400	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
20	chr2:9768400-9769800	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
21	chr2:9768400-9771400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:9768400-9771800	Active TSS	Aorta	Aorta
23	chr2:9768400-9771800	Active TSS	Left Ventricle	heart
24	chr2:9768400-9771800	Active TSS	Psoas Muscle	Psoas
25	chr2:9768400-9771800	Active TSS	Right Atrium	heart
26	chr2:9768600-9769800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:9768600-9771600	Active TSS	HSMMtube	muscle
28	chr2:9768600-9771800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:9768600-9771800	Active TSS	Colonic Mucosa	Colon
30	chr2:9768600-9771800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr2:9768600-9771800	Active TSS	Ovary	ovary
32	chr2:9768800-9769800	Flanking Active TSS	Thymus	Thymus
33	chr2:9768800-9770000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:9768800-9770000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:9768800-9770000	Active TSS	NHDF-Ad	bronchial
36	chr2:9768800-9770200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
37	chr2:9768800-9770400	Transcr. at gene 5' and 3'	K562	blood
38	chr2:9768800-9771600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:9768800-9771600	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr2:9768800-9771600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:9768800-9771600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:9768800-9771600	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr2:9768800-9771800	Active TSS	NHLF	lung
44	chr2:9769000-9770200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:9769000-9770400	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr2:9769000-9770400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr2:9769000-9771400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:9769000-9771400	Active TSS	GM12878-XiMat	blood
49	chr2:9769000-9771400	Active TSS	HSMM	muscle
50	chr2:9769000-9771400	Active TSS	NH-A	brain

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