Variant report

Variant	rs1118320
Chromosome Location	chr9:13197911-13197912
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:13197252..13200075-chr9:13200413..13203199,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10733255	0.93[AFR][1000 genomes]
rs10738330	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs10809914	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1331669	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1331671	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1412107	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1412108	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1556422	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs1576686	1.00[AFR][1000 genomes]
rs1831533	0.87[AFR][1000 genomes]
rs1888745	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1999394	0.93[AFR][1000 genomes]
rs4740546	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs4740549	0.82[YRI][hapmap]
rs7044949	0.86[AFR][1000 genomes]
rs7856615	0.83[YRI][hapmap];0.93[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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13121600-13225200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr9:13135400-13223600	Weak transcription	Lung	lung
3	chr9:13143600-13202200	Weak transcription	Pancreas	Pancrea
4	chr9:13145400-13203200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:13145400-13228600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr9:13146600-13202400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:13156800-13201400	Weak transcription	Psoas Muscle	Psoas
8	chr9:13163600-13202000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr9:13164200-13248600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr9:13164200-13258800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:13168000-13201800	Weak transcription	Colon Smooth Muscle	Colon
12	chr9:13175800-13203000	Weak transcription	Fetal Intestine Small	intestine
13	chr9:13176400-13202600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr9:13180000-13202200	Weak transcription	Fetal Brain Female	brain
15	chr9:13182000-13203400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:13182200-13203200	Weak transcription	HMEC	breast
17	chr9:13182200-13226800	Weak transcription	Fetal Brain Male	brain
18	chr9:13184600-13199400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:13186400-13202000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr9:13186400-13212000	Weak transcription	Gastric	stomach
21	chr9:13188000-13220800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:13188800-13203200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr9:13189000-13202200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:13189000-13221000	Weak transcription	NHLF	lung
25	chr9:13189000-13268600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr9:13189800-13202200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:13189800-13202200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr9:13190200-13202200	Weak transcription	A549	lung
29	chr9:13190400-13201600	Weak transcription	Fetal Heart	heart
30	chr9:13190400-13202000	Weak transcription	Brain Angular Gyrus	brain
31	chr9:13190400-13202200	Weak transcription	Brain Substantia Nigra	brain
32	chr9:13190400-13202400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:13190400-13202400	Weak transcription	Aorta	Aorta
34	chr9:13190400-13202400	Weak transcription	Right Ventricle	heart
35	chr9:13190400-13237800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:13191200-13198200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr9:13192000-13202200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr9:13192000-13202400	Weak transcription	Brain Germinal Matrix	brain
39	chr9:13192200-13202200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr9:13192200-13202400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr9:13192200-13202800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr9:13192600-13202000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:13193200-13201000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr9:13193400-13202000	Weak transcription	Brain Hippocampus Middle	brain
45	chr9:13193400-13202200	Weak transcription	Fetal Intestine Large	intestine
46	chr9:13193600-13201400	Weak transcription	HSMM	muscle
47	chr9:13193600-13201800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr9:13193600-13202000	Weak transcription	HSMMtube	muscle
49	chr9:13193600-13202200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr9:13193600-13202200	Weak transcription	Placenta	Placenta

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