Variant report

Variant	rs2774619
Chromosome Location	chr9:17135259-17135260
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:692813..693544-chr9:17134998..17135501,2	NB4	blood:
2	chr5:43121428..43122109-chr9:17134722..17135406,2	Hela-S3	cervix:
3	chr15:23810837..23811461-chr9:17134816..17135417,2	NB4	blood:

Variant related genes	Relation type
ENSG00000179455	Chromatin interaction
ENSG00000112685	Chromatin interaction
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2774618	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2774625	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2774627	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2779764	1.00[AMR][1000 genomes]
rs2779765	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2779770	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35325455	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs398527	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9406659	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs966406	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2764141	chr9:16903446-17351711	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv892657	chr9:17008137-17223492	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv892658	chr9:17041557-17532840	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1023525	chr9:17121773-17236072	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv892659	chr9:17130360-17236376	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv892660	chr9:17134245-17269437	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv892661	chr9:17134245-17532840	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17134200-17136400	Active TSS	Fetal Brain Female	brain
2	chr9:17134400-17135800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr9:17134400-17136000	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr9:17134400-17136000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr9:17134400-17136000	Active TSS	Brain Hippocampus Middle	brain
6	chr9:17134400-17136000	Active TSS	Brain Substantia Nigra	brain
7	chr9:17134400-17136200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:17134400-17136200	Active TSS	Brain Anterior Caudate	brain
9	chr9:17134400-17136400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:17134400-17136400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:17134600-17135400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:17134600-17135600	Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr9:17134600-17135600	Flanking Active TSS	Placenta	Placenta
14	chr9:17134600-17135600	Active TSS	Small Intestine	intestine
15	chr9:17134600-17135800	Flanking Active TSS	Colonic Mucosa	Colon
16	chr9:17134600-17136000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:17134600-17136000	Active TSS	Pancreas	Pancrea
18	chr9:17134600-17136000	Active TSS	Psoas Muscle	Psoas
19	chr9:17134600-17136200	Active TSS	H9 Cell Line	embryonic stem cell
20	chr9:17134600-17136200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr9:17134600-17136200	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr9:17134600-17136200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr9:17134600-17136200	Active TSS	Aorta	Aorta
24	chr9:17134600-17136200	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr9:17134600-17136200	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr9:17134600-17136200	Active TSS	Right Atrium	heart
27	chr9:17134600-17136200	Active TSS	HSMM	muscle
28	chr9:17134600-17136200	Active TSS	HSMMtube	muscle
29	chr9:17134600-17136400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr9:17134600-17136400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr9:17134600-17136400	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr9:17134800-17135800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:17134800-17135800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr9:17134800-17135800	Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr9:17134800-17135800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr9:17134800-17135800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:17134800-17135800	Active TSS	Liver	Liver
38	chr9:17134800-17135800	Active TSS	Brain Cingulate Gyrus	brain
39	chr9:17134800-17135800	Active TSS	Fetal Heart	heart
40	chr9:17134800-17135800	Active TSS	Placenta Amnion	Placenta Amnion
41	chr9:17134800-17135800	Active TSS	Stomach Mucosa	stomach
42	chr9:17134800-17135800	Active TSS	NH-A	brain
43	chr9:17134800-17136000	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr9:17134800-17136000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr9:17134800-17136000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr9:17134800-17136000	Active TSS	Fetal Intestine Large	intestine
47	chr9:17134800-17136000	Active TSS	Left Ventricle	heart
48	chr9:17134800-17136000	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr9:17134800-17136000	Active TSS	Hela-S3	cervix
50	chr9:17134800-17136000	Active TSS	HepG2	liver

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