Variant report

Variant	rs41304681
Chromosome Location	chr22:32802603-32802604
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:32801191..32803610-chr22:32806296..32808272,2	K562	blood:
2	chr22:32800445..32803051-chr22:32804188..32805697,2	K562	blood:
3	chr22:32802183..32805062-chr22:32805761..32809013,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100220	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11913228	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11913841	1.00[ASN][1000 genomes]
rs16990376	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2142721	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28418991	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28630758	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41282595	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41307235	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55744002	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55878163	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55938437	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56101849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56150811	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56317784	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57570397	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57649686	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57787050	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58316160	0.92[ASN][1000 genomes]
rs73166332	0.81[ASN][1000 genomes]
rs73166337	0.81[ASN][1000 genomes]
rs73166340	0.81[ASN][1000 genomes]
rs73166348	0.84[ASN][1000 genomes]
rs73166368	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73166369	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73166401	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73168706	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73168710	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170318	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73170319	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73400811	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742097	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609518	1.00[ASN][1000 genomes]
rs9619260	0.83[ASN][1000 genomes]
rs9621427	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9680823	0.94[EUR][1000 genomes];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	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1066118	chr22:32779078-32815334	Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32780800-32806400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:32780800-32806400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:32781200-32803200	Strong transcription	Duodenum Mucosa	Duodenum
4	chr22:32781200-32804000	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr22:32781200-32804200	Strong transcription	Stomach Smooth Muscle	stomach
6	chr22:32781200-32804600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr22:32781200-32804600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr22:32781200-32804800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr22:32781200-32805000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:32781200-32805400	Strong transcription	Fetal Muscle Leg	muscle
11	chr22:32781200-32806600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr22:32781400-32803200	Strong transcription	Adipose Nuclei	Adipose
13	chr22:32781400-32803200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr22:32781400-32803600	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr22:32781400-32803800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr22:32781400-32803800	Strong transcription	Liver	Liver
17	chr22:32781400-32804400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr22:32781400-32804600	Strong transcription	Fetal Thymus	thymus
19	chr22:32781400-32804600	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr22:32781400-32804600	Strong transcription	Dnd41	blood
21	chr22:32781400-32804800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr22:32781400-32804800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr22:32781400-32804800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr22:32781400-32804800	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr22:32781400-32805000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:32781400-32805000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr22:32781400-32805000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr22:32781400-32805000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr22:32781400-32805000	Strong transcription	Fetal Intestine Large	intestine
30	chr22:32781400-32805000	Strong transcription	Fetal Lung	lung
31	chr22:32781400-32805000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr22:32781400-32805000	Strong transcription	Left Ventricle	heart
33	chr22:32781400-32805000	Strong transcription	Osteobl	bone
34	chr22:32781400-32805200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr22:32781400-32805200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr22:32781400-32805600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr22:32781400-32806400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr22:32781400-32806600	Strong transcription	Placenta	Placenta
39	chr22:32781600-32804800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr22:32781600-32804800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr22:32781600-32805000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr22:32781600-32805000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr22:32781600-32805400	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr22:32781600-32806000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr22:32781800-32803600	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr22:32781800-32805000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr22:32782000-32804800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr22:32782200-32805200	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr22:32782400-32804800	Strong transcription	Brain Hippocampus Middle	brain
50	chr22:32782800-32807200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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