Variant report

Variant	rs12522905
Chromosome Location	chr5:36222245-36222246
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36220213..36223106-chr5:36238566..36243203,4	K562	blood:

Variant related genes	Relation type
ENSG00000152620	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10454863	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs10512639	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10512640	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs10941277	0.85[ASN][1000 genomes]
rs10941278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10941279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10941281	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10941285	0.91[CEU][hapmap]
rs11737918	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11738615	0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11738984	1.00[YRI][hapmap]
rs11739323	0.91[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11744207	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11745827	0.92[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11747546	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12186384	0.81[EUR][1000 genomes]
rs13154462	0.81[EUR][1000 genomes]
rs13162876	0.92[CEU][hapmap]
rs13163528	0.81[EUR][1000 genomes]
rs13174907	0.96[CEU][hapmap]
rs13179201	0.80[EUR][1000 genomes]
rs13185969	0.82[EUR][1000 genomes]
rs1363840	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16902835	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2362977	0.91[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2362979	0.91[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2432204	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs249272	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28610396	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3088073	0.87[CEU][hapmap]
rs35161198	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35647151	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3761973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789758	0.92[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3933496	0.89[ASN][1000 genomes]
rs4869475	0.88[CEU][hapmap]
rs67061065	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67399512	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6879127	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6881318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6884331	0.91[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6890702	0.92[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72744549	0.93[ASN][1000 genomes]
rs72744564	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72744565	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72744587	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7703895	0.88[CEU][hapmap]
rs7710062	0.95[CEU][hapmap]
rs7716788	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7719357	0.87[CEU][hapmap]
rs7719686	0.82[CEU][hapmap]
rs7723157	0.96[CEU][hapmap]

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	nsv830262	chr5:36074311-36293872	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	63 gene(s)	inside rSNPs	diseases
2	nsv1015638	chr5:36203646-36312576	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36172000-36229200	Weak transcription	Colonic Mucosa	Colon
2	chr5:36175600-36222400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:36179000-36222800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:36179000-36230000	Weak transcription	Psoas Muscle	Psoas
5	chr5:36190600-36227400	Weak transcription	Thymus	Thymus
6	chr5:36191800-36230000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:36192000-36224200	Weak transcription	Aorta	Aorta
8	chr5:36192600-36227800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:36196600-36236600	Weak transcription	GM12878-XiMat	blood
10	chr5:36197800-36224800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:36198000-36238400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:36200000-36229600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr5:36200200-36239400	Weak transcription	Fetal Brain Male	brain
14	chr5:36201200-36230200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:36201400-36240000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr5:36203800-36227000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:36204000-36222600	Weak transcription	Fetal Heart	heart
18	chr5:36204000-36227000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:36205200-36226800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:36209000-36222800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:36210400-36223000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:36210400-36223200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr5:36210600-36222600	Weak transcription	NHLF	lung
24	chr5:36210600-36225000	Weak transcription	NHEK	skin
25	chr5:36210600-36225200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:36212400-36226800	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr5:36213200-36224800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:36213200-36225000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:36213200-36230200	Weak transcription	Brain Germinal Matrix	brain
30	chr5:36213200-36237000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr5:36213400-36227600	Weak transcription	NH-A	brain
32	chr5:36214400-36222600	Strong transcription	Dnd41	blood
33	chr5:36214800-36222800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:36214800-36226200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr5:36215200-36236600	Weak transcription	Small Intestine	intestine
36	chr5:36215800-36237800	Weak transcription	HMEC	breast
37	chr5:36216400-36223000	Weak transcription	Fetal Brain Female	brain
38	chr5:36216400-36225800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr5:36216800-36222600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr5:36216800-36228400	Weak transcription	HUVEC	blood vessel
41	chr5:36219000-36226600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr5:36219000-36227000	Strong transcription	HepG2	liver
43	chr5:36219200-36226600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:36219200-36226800	Strong transcription	Adipose Nuclei	Adipose
45	chr5:36219400-36223000	Strong transcription	Brain Hippocampus Middle	brain
46	chr5:36219400-36226000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:36219400-36226600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr5:36219600-36230000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:36219800-36227000	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr5:36220200-36223800	Weak transcription	Placenta	Placenta

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