Variant report

Variant	rs11793633
Chromosome Location	chr9:7181493-7181494
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10116133	0.85[EUR][1000 genomes]
rs10758823	1.00[ASN][1000 genomes]
rs10815535	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10815537	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10815538	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10815539	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10976092	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10976099	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10976100	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10976101	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10976102	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11787622	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11790944	0.88[EUR][1000 genomes]
rs2381538	1.00[ASN][1000 genomes]
rs4742301	1.00[ASN][1000 genomes]
rs7018720	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7022348	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72707318	1.00[ASN][1000 genomes]
rs72707323	1.00[ASN][1000 genomes]
rs818866	1.00[ASN][1000 genomes]
rs843893	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892166	chr9:6602821-7222495	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1023906	chr9:6731786-7372132	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv613259	chr9:7032776-7541338	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1015874	chr9:7048807-7434890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv539971	chr9:7048807-7434890	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv892190	chr9:7094860-7186074	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv892192	chr9:7153009-7257340	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
8	esv2758178	chr9:7175387-7482982	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv2759662	chr9:7175387-7482982	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7148600-7185400	Weak transcription	HMEC	breast
2	chr9:7149600-7185400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:7149600-7186200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:7151800-7188600	Weak transcription	Colonic Mucosa	Colon
5	chr9:7160800-7182000	Weak transcription	Dnd41	blood
6	chr9:7162600-7181600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr9:7162600-7182200	Weak transcription	Small Intestine	intestine
8	chr9:7165800-7183800	Weak transcription	Esophagus	oesophagus
9	chr9:7165800-7185400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr9:7167200-7185600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:7169200-7183000	Strong transcription	Primary T cells from cord blood	blood
12	chr9:7171200-7188200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:7171200-7193000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:7172000-7182400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr9:7172000-7183800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr9:7172600-7185400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr9:7172800-7185400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr9:7172800-7185400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr9:7172800-7185600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr9:7173000-7185600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr9:7173200-7182400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr9:7173200-7185200	Weak transcription	NHLF	lung
23	chr9:7173200-7185400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:7173400-7185400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr9:7173400-7185800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr9:7173400-7185800	Weak transcription	Brain Anterior Caudate	brain
27	chr9:7173400-7186200	Weak transcription	Brain Hippocampus Middle	brain
28	chr9:7173400-7186400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr9:7175000-7183600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr9:7175000-7191800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr9:7175200-7182000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr9:7175200-7187800	Weak transcription	Ovary	ovary
33	chr9:7176200-7183800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr9:7176200-7185400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:7176200-7185400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr9:7176400-7181600	Weak transcription	HepG2	liver
37	chr9:7176400-7181800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr9:7176400-7183000	Weak transcription	Thymus	Thymus
39	chr9:7176400-7184400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr9:7176400-7185000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr9:7176400-7185600	Weak transcription	Spleen	Spleen
42	chr9:7176400-7185800	Weak transcription	Left Ventricle	heart
43	chr9:7176400-7186000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:7176400-7186000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr9:7176400-7186200	Weak transcription	Adipose Nuclei	Adipose
46	chr9:7176400-7186200	Weak transcription	Pancreas	Pancrea
47	chr9:7176400-7186600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr9:7176400-7188000	Weak transcription	Gastric	stomach
49	chr9:7176600-7182800	Weak transcription	Fetal Intestine Small	intestine
50	chr9:7176600-7183400	Weak transcription	Monocytes-CD14+_RO01746	blood

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