Variant report

Variant	rs71414549
Chromosome Location	chr2:55387903-55387904
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55277314..55278923-chr2:55386826..55389173,2	K562	blood:
2	chr2:55385743..55388295-chr2:55460088..55461878,2	K562	blood:
3	chr2:55385743..55388454-chr2:55459849..55461588,2	K562	blood:
4	chr2:55277523..55279403-chr2:55387349..55389378,2	K562	blood:

Variant related genes	Relation type
ENSG00000143947	Chromatin interaction
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1134722	0.81[EUR][1000 genomes]
rs11686766	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11686912	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11687876	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12989854	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs12995548	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13000786	0.81[EUR][1000 genomes]
rs13003020	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13012567	0.81[EUR][1000 genomes]
rs13014752	0.82[EUR][1000 genomes]
rs13017468	0.81[EUR][1000 genomes]
rs13032294	0.83[ASN][1000 genomes]
rs2028139	0.84[EUR][1000 genomes]
rs34447956	0.81[EUR][1000 genomes]
rs35141050	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35183885	0.84[EUR][1000 genomes]
rs35227659	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35297827	0.81[EUR][1000 genomes]
rs35700883	0.95[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs36121000	0.81[EUR][1000 genomes]
rs4318424	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4627623	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6742306	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6743339	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6747466	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71414544	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71414545	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71414546	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71414547	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71414548	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71414556	0.81[EUR][1000 genomes]
rs71414557	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010438	chr2:55373562-55450144	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55378200-55388000	Enhancers	Brain Cingulate Gyrus	brain
2	chr2:55378200-55388800	Enhancers	Adipose Nuclei	Adipose
3	chr2:55381000-55391000	Enhancers	Stomach Mucosa	stomach
4	chr2:55381200-55390600	Enhancers	Brain Angular Gyrus	brain
5	chr2:55383400-55390000	Weak transcription	Fetal Kidney	kidney
6	chr2:55383600-55388600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:55383600-55395600	Enhancers	Pancreas	Pancrea
8	chr2:55383800-55388600	Enhancers	Brain Anterior Caudate	brain
9	chr2:55384000-55389200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:55384000-55389600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:55384000-55390600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:55384000-55392800	Weak transcription	HMEC	breast
13	chr2:55384200-55388800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:55384200-55389000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:55384200-55390600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:55384400-55388800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:55384800-55389800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:55384800-55392200	Weak transcription	Right Ventricle	heart
19	chr2:55385000-55388400	Weak transcription	Fetal Brain Male	brain
20	chr2:55385000-55389000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:55385200-55388800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:55385200-55389800	Weak transcription	Fetal Lung	lung
23	chr2:55385400-55388600	Enhancers	Brain Substantia Nigra	brain
24	chr2:55385400-55389200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:55385400-55390400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:55385400-55390600	Weak transcription	A549	lung
27	chr2:55385600-55388800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:55386000-55395000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:55386600-55388000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:55386600-55388600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:55386600-55388600	Weak transcription	Brain Germinal Matrix	brain
32	chr2:55386600-55388600	Weak transcription	NH-A	brain
33	chr2:55386600-55388800	Weak transcription	Gastric	stomach
34	chr2:55386600-55389800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:55386600-55390000	Weak transcription	Ovary	ovary
36	chr2:55386600-55390400	Weak transcription	Aorta	Aorta
37	chr2:55386600-55390400	Weak transcription	Fetal Intestine Large	intestine
38	chr2:55386600-55390600	Weak transcription	Small Intestine	intestine
39	chr2:55386600-55390600	Weak transcription	Hela-S3	cervix
40	chr2:55386800-55388000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:55386800-55388000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:55386800-55388000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:55386800-55388000	Weak transcription	Left Ventricle	heart
44	chr2:55386800-55388000	Weak transcription	HUVEC	blood vessel
45	chr2:55386800-55388400	Enhancers	Brain Hippocampus Middle	brain
46	chr2:55386800-55388400	Weak transcription	Osteobl	bone
47	chr2:55386800-55388600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr2:55386800-55388600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:55386800-55388600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:55386800-55388600	Enhancers	Brain Inferior Temporal Lobe	brain

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