Variant report

Variant	rs1999394
Chromosome Location	chr9:13171466-13171467
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	chr9:13171132..13173379-chr9:13209531..13212132,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10733255	0.86[AFR][1000 genomes]
rs10809911	1.00[CHD][hapmap]
rs10809914	1.00[LWK][hapmap];0.93[AFR][1000 genomes]
rs1118320	0.93[AFR][1000 genomes]
rs1331669	0.93[AFR][1000 genomes]
rs1331671	0.93[AFR][1000 genomes]
rs1412107	0.81[AFR][1000 genomes]
rs1412108	0.81[AFR][1000 genomes]
rs1556422	0.86[AFR][1000 genomes]
rs1576686	0.93[AFR][1000 genomes]
rs1831533	0.81[AFR][1000 genomes]
rs4740546	0.86[AFR][1000 genomes]
rs7029241	1.00[CHD][hapmap]
rs7856615	0.82[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892578	chr9:12942956-13485035	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv892583	chr9:13166139-13350478	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13103200-13175600	Weak transcription	HepG2	liver
2	chr9:13121600-13225200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:13122600-13186400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:13135400-13223600	Weak transcription	Lung	lung
5	chr9:13136000-13192400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:13138800-13191800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr9:13139000-13188200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:13139800-13174800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:13140200-13174800	Weak transcription	Right Ventricle	heart
10	chr9:13141000-13181600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:13141000-13197800	Weak transcription	NHDF-Ad	bronchial
12	chr9:13141200-13188200	Weak transcription	NHLF	lung
13	chr9:13143600-13202200	Weak transcription	Pancreas	Pancrea
14	chr9:13145400-13203200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:13145400-13228600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:13146600-13202400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr9:13147000-13178000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr9:13150000-13193200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr9:13150400-13180800	Weak transcription	A549	lung
20	chr9:13153200-13194800	Weak transcription	Fetal Kidney	kidney
21	chr9:13156800-13201400	Weak transcription	Psoas Muscle	Psoas
22	chr9:13157400-13175400	Weak transcription	Placenta	Placenta
23	chr9:13158200-13173200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:13158800-13188800	Weak transcription	Fetal Heart	heart
25	chr9:13160600-13183000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr9:13161600-13188200	Weak transcription	Fetal Stomach	stomach
27	chr9:13162200-13173400	Weak transcription	Ovary	ovary
28	chr9:13162200-13175600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr9:13162200-13188200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:13163600-13202000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr9:13164200-13179400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr9:13164200-13188000	Weak transcription	Brain Hippocampus Middle	brain
33	chr9:13164200-13188800	Weak transcription	Brain Substantia Nigra	brain
34	chr9:13164200-13248600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr9:13164200-13258800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:13165800-13187400	Weak transcription	Brain Germinal Matrix	brain
37	chr9:13166000-13177400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:13166000-13181600	Weak transcription	HMEC	breast
39	chr9:13166400-13173800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr9:13166400-13177200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr9:13166400-13179200	Weak transcription	Fetal Brain Female	brain
42	chr9:13167000-13175000	Weak transcription	Brain Angular Gyrus	brain
43	chr9:13168000-13201800	Weak transcription	Colon Smooth Muscle	Colon
44	chr9:13168400-13175800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr9:13168400-13179000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr9:13168400-13179200	Weak transcription	HSMMtube	muscle
47	chr9:13168400-13181600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:13168400-13181600	Weak transcription	Brain Anterior Caudate	brain
49	chr9:13168400-13182600	Weak transcription	Fetal Lung	lung
50	chr9:13168400-13188200	Weak transcription	Brain Cingulate Gyrus	brain

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