Variant report

Variant	rs11793993
Chromosome Location	chr9:13265893-13265894
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	chr9:13257934..13260781-chr9:13265128..13267553,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1038979	1.00[YRI][hapmap]
rs10756461	1.00[YRI][hapmap]
rs10756465	0.82[CHB][hapmap]
rs10809920	1.00[YRI][hapmap]
rs10809922	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10809924	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10960985	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11788311	0.82[AMR][1000 genomes]
rs1330129	1.00[YRI][hapmap]
rs1330133	0.97[ASN][1000 genomes]
rs17273898	0.82[CHB][hapmap]
rs6474759	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7041374	1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7048187	0.94[ASN][1000 genomes]
rs7863888	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv892584	chr9:13214871-13350478	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv427838	chr9:13229753-13393890	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13189000-13268600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:13209800-13266000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr9:13226800-13278000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr9:13240000-13278000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:13244200-13267600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:13247800-13266000	Weak transcription	HSMM	muscle
7	chr9:13248000-13267800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr9:13248000-13268600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr9:13252200-13267600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr9:13255000-13277200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:13256000-13267600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:13256600-13266800	Weak transcription	Brain Germinal Matrix	brain
13	chr9:13256600-13269800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr9:13256800-13277600	Weak transcription	Fetal Muscle Leg	muscle
15	chr9:13257200-13267200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr9:13258600-13266200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr9:13262000-13266200	Weak transcription	Fetal Lung	lung
18	chr9:13263200-13266200	Enhancers	HUVEC	blood vessel
19	chr9:13264400-13266600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr9:13264600-13267800	Enhancers	Colon Smooth Muscle	Colon
21	chr9:13264600-13268400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:13264600-13269200	Enhancers	Osteobl	bone
23	chr9:13264800-13266400	Enhancers	Stomach Smooth Muscle	stomach
24	chr9:13264800-13267000	Enhancers	Adipose Nuclei	Adipose
25	chr9:13264800-13267000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr9:13264800-13267200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr9:13264800-13269800	Enhancers	Rectal Smooth Muscle	rectum
28	chr9:13265000-13267000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr9:13265000-13267000	Enhancers	Brain Cingulate Gyrus	brain
30	chr9:13265000-13267000	Enhancers	Brain Hippocampus Middle	brain
31	chr9:13265000-13267000	Enhancers	Brain Substantia Nigra	brain
32	chr9:13265000-13267800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:13265000-13268600	Enhancers	Fetal Heart	heart
34	chr9:13265200-13266000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:13265200-13266000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:13265200-13266000	Enhancers	Brain Angular Gyrus	brain
37	chr9:13265200-13266200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr9:13265200-13266200	Enhancers	Right Atrium	heart
39	chr9:13265200-13266400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr9:13265200-13266800	Weak transcription	A549	lung
41	chr9:13265200-13268400	Weak transcription	NHLF	lung
42	chr9:13265200-13268600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr9:13265400-13266000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:13265400-13266400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr9:13265400-13267400	Enhancers	NH-A	brain
46	chr9:13265600-13266000	Weak transcription	Psoas Muscle	Psoas
47	chr9:13265600-13266200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr9:13265600-13266200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:13265600-13266400	Enhancers	Ovary	ovary
50	chr9:13265600-13267800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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