Variant report

Variant	rs73442470
Chromosome Location	chr9:21933056-21933057
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10811639	1.00[ASN][1000 genomes]
rs10965184	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998828	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12002708	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12003027	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12003714	1.00[ASN][1000 genomes]
rs58869398	1.00[ASN][1000 genomes]
rs73429352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73434151	1.00[EUR][1000 genomes]
rs73440481	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73440484	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73442446	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73442448	1.00[ASN][1000 genomes]
rs73442453	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73442472	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73442474	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7855729	1.00[EUR][1000 genomes]
rs7868374	1.00[ASN][1000 genomes]

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	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv892745	chr9:21857244-22006273	Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv1821117	chr9:21933029-22012229	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21911000-21935800	Weak transcription	HSMM	muscle
2	chr9:21920600-21935000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:21920600-21942600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:21921200-21934000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr9:21921200-21935600	Weak transcription	Primary T cells from cord blood	blood
6	chr9:21923800-21934000	Weak transcription	Thymus	Thymus
7	chr9:21923800-21934800	Weak transcription	Dnd41	blood
8	chr9:21924000-21934600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr9:21927000-21933400	Weak transcription	HSMMtube	muscle
10	chr9:21928000-21934800	Weak transcription	Psoas Muscle	Psoas
11	chr9:21928600-21933200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:21929600-21933800	Weak transcription	Liver	Liver
13	chr9:21929800-21935600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr9:21930800-21933800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr9:21931000-21933400	Weak transcription	Placenta	Placenta
16	chr9:21931400-21934600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:21931400-21937400	Weak transcription	Pancreas	Pancrea
18	chr9:21931600-21933400	Weak transcription	Right Ventricle	heart
19	chr9:21931600-21933400	Weak transcription	NHDF-Ad	bronchial
20	chr9:21931600-21935600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:21931800-21933200	Weak transcription	Osteobl	bone
22	chr9:21931800-21933400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:21931800-21933600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:21931800-21934200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr9:21931800-21935400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:21931800-21938000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr9:21932000-21933200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr9:21932000-21933600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr9:21932000-21933600	Weak transcription	Ovary	ovary
30	chr9:21932000-21934000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr9:21932000-21934000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:21932000-21934200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr9:21932000-21934200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr9:21932000-21934200	Weak transcription	Left Ventricle	heart
35	chr9:21932000-21934400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr9:21932000-21934400	Weak transcription	Aorta	Aorta
37	chr9:21932000-21934400	Weak transcription	Fetal Stomach	stomach
38	chr9:21932000-21934600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr9:21932000-21935800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:21932200-21933200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr9:21932200-21933200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr9:21932200-21933400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr9:21932400-21933400	Weak transcription	NH-A	brain
44	chr9:21932400-21934400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr9:21932400-21935800	Weak transcription	Adipose Nuclei	Adipose
46	chr9:21932600-21939000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr9:21932800-21933200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr9:21932800-21933600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr9:21932800-21933600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr9:21932800-21934000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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