Variant report

Variant	rs9606991
Chromosome Location	chr22:33157167-33157168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32920308-32927723..22:33154607-33167707	H1-hESC	embryonic stem cell:	embryo
2	22:32578360-32590642..22:33154607-33167707	K562	blood:
3	22:32342898-32343477..22:33154607-33167707	Hela-S3	cervix:
4	22:32764253-32784733..22:33154607-33167707	K562	blood:
5	chr22:33115192..33117854-chr22:33156131..33157646,2	MCF-7	breast:
6	22:32053085-32061138..22:33154607-33167707	K562	blood:
7	22:33154607-33167707..22:33262063-33266567	Hela-S3	cervix:
8	22:33154607-33167707..22:33339333-33353583	Hela-S3	cervix:
9	22:32292186-32294405..22:33154607-33167707	K562	blood:
10	22:32594665-32606395..22:33154607-33167707	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
ENSG00000100150	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000242082	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000254127	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000128253	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1018790	0.88[ASN][1000 genomes]
rs1018792	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11089594	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130269	0.82[AMR][1000 genomes]
rs130270	0.82[AMR][1000 genomes]
rs130525	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs130530	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs130532	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs130533	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs130538	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs130548	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs130551	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs130559	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs130560	0.85[AMR][1000 genomes]
rs135149	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1962223	0.82[AMR][1000 genomes]
rs2413148	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3827342	0.80[ASN][1000 genomes]
rs4322932	0.95[ASN][1000 genomes]
rs4635627	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4821094	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4821095	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4821096	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754251	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754253	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs5994618	0.86[ASN][1000 genomes]
rs5994619	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998616	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998622	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72487604	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs762887	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs80269	0.85[AMR][1000 genomes]
rs929013	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs929014	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9606992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606993	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9609622	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609623	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609631	0.85[AMR][1000 genomes];0.81[ASN][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	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3389882	chr22:33154777-33157325	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	esv3328989	chr22:33154902-33157275	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33149200-33157200	Weak transcription	NHLF	lung
2	chr22:33149400-33157400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:33151000-33158000	Weak transcription	Right Ventricle	heart
4	chr22:33151000-33175400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr22:33152800-33158000	Weak transcription	Pancreas	Pancrea
6	chr22:33154400-33157800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr22:33155000-33161400	Enhancers	Right Atrium	heart
8	chr22:33156200-33158800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr22:33156200-33158800	Enhancers	Left Ventricle	heart
10	chr22:33156200-33158800	Enhancers	Lung	lung
11	chr22:33156200-33158800	Enhancers	HSMMtube	muscle
12	chr22:33156200-33160600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr22:33156200-33161400	Enhancers	Adipose Nuclei	Adipose
14	chr22:33156400-33157200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr22:33156400-33157200	Enhancers	Brain Substantia Nigra	brain
16	chr22:33156400-33157400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr22:33156400-33157400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr22:33156400-33157400	Enhancers	Fetal Muscle Leg	muscle
19	chr22:33156400-33157600	Enhancers	Placenta	Placenta
20	chr22:33156400-33157600	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr22:33156400-33157600	Flanking Active TSS	HSMM	muscle
22	chr22:33156400-33157800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:33156400-33158400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr22:33156400-33158400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr22:33156400-33158400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
26	chr22:33156400-33158800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr22:33156400-33158800	Enhancers	Osteobl	bone
28	chr22:33156400-33159000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr22:33156400-33160200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr22:33156400-33161600	Enhancers	Spleen	Spleen
31	chr22:33156600-33157200	Enhancers	Fetal Stomach	stomach
32	chr22:33156600-33157400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr22:33156600-33157800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr22:33156600-33157800	Enhancers	Fetal Lung	lung
35	chr22:33156600-33158400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr22:33156600-33158400	Enhancers	Primary hematopoietic stem cells	blood
37	chr22:33156600-33158400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr22:33156600-33158400	Enhancers	HepG2	liver
39	chr22:33156600-33158800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr22:33156800-33157200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr22:33156800-33157200	Enhancers	Esophagus	oesophagus
42	chr22:33156800-33157800	Enhancers	Fetal Thymus	thymus
43	chr22:33156800-33157800	Weak transcription	Psoas Muscle	Psoas
44	chr22:33156800-33158400	Flanking Active TSS	Hela-S3	cervix
45	chr22:33157000-33157200	Bivalent Enhancer	Rectal Smooth Muscle	rectum
46	chr22:33157000-33157400	Enhancers	Colonic Mucosa	Colon
47	chr22:33157000-33157600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr22:33157000-33157600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr22:33157000-33157600	Enhancers	A549	lung
50	chr22:33157000-33157800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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