Variant report

Variant	rs9620742
Chromosome Location	chr22:28257917-28257918
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10483138	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11090518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12165651	0.84[AFR][1000 genomes]
rs12166069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168796	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170186	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12170294	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12170737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12330032	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985666	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16985691	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985697	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985700	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16985704	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985705	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985706	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985707	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985718	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58520548	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59807513	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7288331	0.82[AFR][1000 genomes]
rs8140760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8142319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8142920	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs926468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620744	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620746	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620747	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620755	0.84[AFR][1000 genomes]
rs9625345	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625346	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625347	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625348	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625349	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625350	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625351	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625352	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625357	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625367	0.84[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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv588878	chr22:28248840-28314113	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28239200-28259400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr22:28240800-28258400	Strong transcription	Thymus	Thymus
3	chr22:28241400-28261600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr22:28241600-28258000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr22:28242000-28259400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr22:28242200-28259000	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr22:28242200-28259400	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr22:28242400-28263200	Strong transcription	GM12878-XiMat	blood
9	chr22:28242600-28258200	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr22:28242600-28259200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr22:28242600-28259400	Strong transcription	NHEK	skin
12	chr22:28242800-28259400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr22:28243800-28259600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr22:28243800-28274000	Strong transcription	Dnd41	blood
15	chr22:28244000-28261800	Strong transcription	HMEC	breast
16	chr22:28244000-28263600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr22:28244200-28264200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr22:28246400-28259400	Strong transcription	Placenta	Placenta
19	chr22:28246800-28258000	Strong transcription	Fetal Thymus	thymus
20	chr22:28246800-28258200	Strong transcription	NH-A	brain
21	chr22:28246800-28259000	Strong transcription	Fetal Muscle Leg	muscle
22	chr22:28247000-28258800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr22:28247000-28311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr22:28247600-28258000	Strong transcription	HUVEC	blood vessel
25	chr22:28248200-28258000	Strong transcription	HepG2	liver
26	chr22:28248600-28263000	Weak transcription	Right Atrium	heart
27	chr22:28248800-28258200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:28249800-28259000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr22:28249800-28261400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr22:28249800-28262200	Weak transcription	Fetal Brain Male	brain
31	chr22:28250000-28259000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr22:28250000-28259000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr22:28250200-28259000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr22:28250800-28258200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr22:28250800-28259400	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr22:28251600-28259000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr22:28251600-28267400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr22:28251800-28259400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr22:28252000-28258400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr22:28252200-28258400	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr22:28252200-28262600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr22:28252400-28258000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr22:28252400-28258200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr22:28252800-28265000	Weak transcription	K562	blood
45	chr22:28252800-28272600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:28253800-28258800	Weak transcription	Brain Hippocampus Middle	brain
47	chr22:28253800-28279600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr22:28254000-28258400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr22:28254000-28259200	Enhancers	Colon Smooth Muscle	Colon
50	chr22:28254000-28264200	Weak transcription	Placenta Amnion	Placenta Amnion

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