Variant report

Variant	rs12346926
Chromosome Location	chr9:27014502-27014503
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:26995453..26998154-chr9:27012663..27014955,2	K562	blood:

Variant related genes	Relation type
ENSG00000184434	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10217666	1.00[AFR][1000 genomes]
rs10217792	1.00[YRI][hapmap]
rs10967592	1.00[YRI][hapmap]
rs10967593	1.00[YRI][hapmap]
rs10967596	1.00[YRI][hapmap]
rs10967618	0.91[AFR][1000 genomes]
rs10967619	0.84[AFR][1000 genomes]
rs10967620	0.84[AFR][1000 genomes]
rs10967659	1.00[AFR][1000 genomes]
rs12336131	1.00[YRI][hapmap]
rs12336174	1.00[AFR][1000 genomes]
rs12336185	1.00[AFR][1000 genomes]
rs12336232	1.00[AFR][1000 genomes]
rs12338421	1.00[YRI][hapmap]
rs12339549	0.91[AFR][1000 genomes]
rs12339708	1.00[AFR][1000 genomes]
rs12340112	1.00[AFR][1000 genomes]
rs12341560	1.00[YRI][hapmap]
rs12341712	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12344880	0.82[AFR][1000 genomes]
rs12345094	1.00[YRI][hapmap]
rs12346262	1.00[YRI][hapmap]
rs12348593	1.00[AFR][1000 genomes]
rs12348715	0.91[AFR][1000 genomes]
rs12351839	0.91[AFR][1000 genomes]
rs12352013	0.91[AFR][1000 genomes]
rs12352278	0.91[AFR][1000 genomes]
rs13440285	1.00[AFR][1000 genomes]
rs28509785	0.91[AFR][1000 genomes]
rs28525632	0.82[AFR][1000 genomes]

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	nsv528614	chr9:26893662-27074233	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv517269	chr9:26945976-27137242	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv892862	chr9:26956663-27190655	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26957000-27024000	Weak transcription	Esophagus	oesophagus
2	chr9:26957200-27026600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr9:26957200-27040000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr9:26974200-27023600	Weak transcription	Fetal Brain Female	brain
5	chr9:26976800-27017800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr9:26977200-27019400	Weak transcription	NH-A	brain
7	chr9:26977800-27026000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr9:26979400-27024000	Weak transcription	Small Intestine	intestine
9	chr9:26982800-27023800	Weak transcription	Lung	lung
10	chr9:26983600-27023800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:26985200-27015800	Weak transcription	Brain Angular Gyrus	brain
12	chr9:26985200-27016200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr9:26985200-27017400	Weak transcription	Brain Substantia Nigra	brain
14	chr9:26985200-27024000	Weak transcription	Right Ventricle	heart
15	chr9:26985200-27024000	Weak transcription	HSMM	muscle
16	chr9:26985200-27063800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr9:26985400-27015600	Weak transcription	Primary T cells from cord blood	blood
18	chr9:26985400-27015800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:26985400-27017400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:26985400-27017400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr9:26985400-27017800	Weak transcription	Fetal Thymus	thymus
22	chr9:26985400-27024000	Weak transcription	A549	lung
23	chr9:26985600-27024400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:26985800-27018800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr9:26986800-27016000	Weak transcription	Ovary	ovary
26	chr9:26987200-27017200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr9:26987200-27023800	Weak transcription	HSMMtube	muscle
28	chr9:26987400-27019000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:26987400-27024000	Weak transcription	Aorta	Aorta
30	chr9:26987800-27016000	Weak transcription	Adipose Nuclei	Adipose
31	chr9:26991400-27017800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr9:26991600-27016200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr9:26991600-27017400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr9:26991800-27058000	Weak transcription	NHDF-Ad	bronchial
35	chr9:26992800-27017200	Weak transcription	Fetal Stomach	stomach
36	chr9:26993600-27015800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr9:27003000-27016200	Weak transcription	Spleen	Spleen
38	chr9:27004000-27023800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr9:27005200-27024000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr9:27005800-27024000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr9:27006400-27024000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr9:27006600-27023800	Weak transcription	Colonic Mucosa	Colon
43	chr9:27006600-27024200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr9:27006800-27017400	Weak transcription	HMEC	breast
45	chr9:27007600-27015800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr9:27007800-27015800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr9:27007800-27015800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr9:27008200-27017400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr9:27008600-27022000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr9:27008600-27023800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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