Variant report

Variant	rs13185969
Chromosome Location	chr5:36222746-36222747
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: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10454863	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10512639	0.81[EUR][1000 genomes]
rs10512640	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10941279	0.81[EUR][1000 genomes]
rs10941281	0.81[EUR][1000 genomes]
rs10941285	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11747546	0.81[EUR][1000 genomes]
rs11948581	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11952882	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12186384	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189205	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12522905	0.82[EUR][1000 genomes]
rs13153581	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13154338	0.98[ASN][1000 genomes]
rs13154462	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13160147	0.98[ASN][1000 genomes]
rs13162876	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13163528	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13166148	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13174281	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13174907	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13178531	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13179201	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13180677	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16902835	0.87[EUR][1000 genomes]
rs3088073	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35647151	0.81[EUR][1000 genomes]
rs4869475	0.83[EUR][1000 genomes]
rs62356073	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6451261	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67399512	0.81[EUR][1000 genomes]
rs6865319	0.95[ASN][1000 genomes]
rs6881318	0.82[EUR][1000 genomes]
rs732328	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7703895	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7705641	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7710062	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7719357	0.80[EUR][1000 genomes]
rs7719686	0.81[EUR][1000 genomes]
rs7723157	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731023	0.86[ASN][1000 genomes]
rs7736943	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][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	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	chr5:36179000-36222800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:36179000-36230000	Weak transcription	Psoas Muscle	Psoas
4	chr5:36190600-36227400	Weak transcription	Thymus	Thymus
5	chr5:36191800-36230000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:36192000-36224200	Weak transcription	Aorta	Aorta
7	chr5:36192600-36227800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:36196600-36236600	Weak transcription	GM12878-XiMat	blood
9	chr5:36197800-36224800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:36198000-36238400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:36200000-36229600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr5:36200200-36239400	Weak transcription	Fetal Brain Male	brain
13	chr5:36201200-36230200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:36201400-36240000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr5:36203800-36227000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:36204000-36227000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:36205200-36226800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:36209000-36222800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:36210400-36223000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:36210400-36223200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr5:36210600-36225000	Weak transcription	NHEK	skin
22	chr5:36210600-36225200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:36212400-36226800	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr5:36213200-36224800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:36213200-36225000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:36213200-36230200	Weak transcription	Brain Germinal Matrix	brain
27	chr5:36213200-36237000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:36213400-36227600	Weak transcription	NH-A	brain
29	chr5:36214800-36222800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:36214800-36226200	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr5:36215200-36236600	Weak transcription	Small Intestine	intestine
32	chr5:36215800-36237800	Weak transcription	HMEC	breast
33	chr5:36216400-36223000	Weak transcription	Fetal Brain Female	brain
34	chr5:36216400-36225800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr5:36216800-36228400	Weak transcription	HUVEC	blood vessel
36	chr5:36219000-36226600	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr5:36219000-36227000	Strong transcription	HepG2	liver
38	chr5:36219200-36226600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:36219200-36226800	Strong transcription	Adipose Nuclei	Adipose
40	chr5:36219400-36223000	Strong transcription	Brain Hippocampus Middle	brain
41	chr5:36219400-36226000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:36219400-36226600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr5:36219600-36230000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:36219800-36227000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:36220200-36223800	Weak transcription	Placenta	Placenta
46	chr5:36220200-36226600	Strong transcription	Brain Anterior Caudate	brain
47	chr5:36220400-36222800	Strong transcription	HSMM	muscle
48	chr5:36220400-36223000	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr5:36220400-36223000	Strong transcription	Ovary	ovary
50	chr5:36220400-36223200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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