Variant report

Variant	rs2800222
Chromosome Location	chr1:247031237-247031238
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247029799..247031525-chr1:247058523..247060785,2	MCF-7	breast:
2	chr1:247030122..247032370-chr1:247032584..247035559,2	K562	blood:
3	chr1:247030642..247032624-chr1:247035866..247038095,2	K562	blood:
4	chr1:246822078..246824863-chr1:247030582..247033303,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10802450	0.81[ASN][1000 genomes]
rs1630829	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1691251	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2996549	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2996550	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs5021094	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6685066	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6688227	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7526386	0.83[EUR][1000 genomes]
rs7528980	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7530860	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9783081	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[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	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer 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	52 gene(s)	inside rSNPs	diseases
6	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv1810844	chr1:246988018-247054824	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv873424	chr1:246991094-247366380	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv5276	chr1:247028364-247073098	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247002000-247038200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:247002200-247031400	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:247002200-247033800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:247002200-247034200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:247002200-247082400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:247002400-247081000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr1:247002800-247032600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:247002800-247043200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:247003200-247042200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:247003200-247042800	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:247003400-247043000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:247003400-247044600	Strong transcription	Dnd41	blood
13	chr1:247004000-247040800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:247004000-247041200	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr1:247004000-247042800	Strong transcription	Primary T cells from cord blood	blood
16	chr1:247004000-247053600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:247004200-247042400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr1:247004200-247042800	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:247004200-247043000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:247004200-247044400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:247004200-247044400	Strong transcription	Liver	Liver
22	chr1:247004200-247083400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:247004400-247043000	Strong transcription	Adipose Nuclei	Adipose
24	chr1:247004400-247044600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:247005200-247079800	Weak transcription	Stomach Mucosa	stomach
26	chr1:247006600-247071600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:247010000-247041200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:247013000-247032800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:247015400-247032600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:247018400-247056400	Weak transcription	Fetal Heart	heart
31	chr1:247018600-247033000	Weak transcription	Psoas Muscle	Psoas
32	chr1:247020400-247072800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:247020800-247034400	Weak transcription	Aorta	Aorta
34	chr1:247022000-247043000	Strong transcription	A549	lung
35	chr1:247022400-247042800	Weak transcription	Gastric	stomach
36	chr1:247023000-247032800	Weak transcription	Fetal Brain Male	brain
37	chr1:247023400-247032400	Weak transcription	Esophagus	oesophagus
38	chr1:247023400-247040800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:247023600-247032400	Weak transcription	Spleen	Spleen
40	chr1:247023600-247038800	Weak transcription	Right Ventricle	heart
41	chr1:247024000-247032200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:247024000-247032600	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:247024000-247032800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:247024000-247032800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr1:247024000-247034600	Weak transcription	Small Intestine	intestine
46	chr1:247024200-247032400	Weak transcription	Ovary	ovary
47	chr1:247024200-247032600	Weak transcription	Colonic Mucosa	Colon
48	chr1:247024200-247032600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:247024200-247038400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:247024200-247052000	Weak transcription	Pancreas	Pancrea

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