Variant report

Variant	rs66502736
Chromosome Location	chr3:28317062-28317063
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:28308373..28310438-chr3:28316612..28319409,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11706332	0.88[ASN][1000 genomes]
rs11708424	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12107256	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13081520	0.80[ASN][1000 genomes]
rs13083544	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13085245	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13090296	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13092618	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13093242	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13099152	0.90[ASN][1000 genomes]
rs1599826	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1606386	0.91[ASN][1000 genomes]
rs1606388	0.86[ASN][1000 genomes]
rs1610238	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17021221	0.87[ASN][1000 genomes]
rs17021306	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17638742	0.90[ASN][1000 genomes]
rs17638782	0.90[ASN][1000 genomes]
rs17638991	0.89[ASN][1000 genomes]
rs17695765	0.86[ASN][1000 genomes]
rs17696025	0.80[ASN][1000 genomes]
rs2016948	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34017994	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34311197	0.80[ASN][1000 genomes]
rs34419916	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34541614	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34574968	0.89[ASN][1000 genomes]
rs34681294	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34748842	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35217335	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35232922	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35439056	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35460328	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35496780	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35530532	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35565264	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35575798	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35678778	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35736614	0.90[ASN][1000 genomes]
rs35768817	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35845822	0.90[ASN][1000 genomes]
rs35937120	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3762797	0.80[ASN][1000 genomes]
rs4522735	0.90[ASN][1000 genomes]
rs56946005	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62251105	0.89[ASN][1000 genomes]
rs62251108	0.87[ASN][1000 genomes]
rs62251138	0.80[ASN][1000 genomes]
rs62252069	0.90[ASN][1000 genomes]
rs66716911	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66733194	0.80[ASN][1000 genomes]
rs67023418	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68097246	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71087683	0.90[ASN][1000 genomes]
rs7635383	0.91[ASN][1000 genomes]
rs7650831	0.85[ASN][1000 genomes]
rs952888	0.88[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	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv876649	chr3:28126595-28718454	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28284000-28317200	Weak transcription	Gastric	stomach
2	chr3:28284400-28321800	Weak transcription	NHLF	lung
3	chr3:28295600-28318200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr3:28303400-28322200	Weak transcription	Small Intestine	intestine
5	chr3:28303600-28340600	Weak transcription	NHEK	skin
6	chr3:28303800-28320800	Weak transcription	Placenta	Placenta
7	chr3:28304200-28332400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:28305600-28322600	Weak transcription	Osteobl	bone
9	chr3:28306400-28332400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr3:28306600-28335800	Weak transcription	Hela-S3	cervix
11	chr3:28307400-28317400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:28309000-28336600	Weak transcription	HUVEC	blood vessel
13	chr3:28310400-28321200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:28311200-28317200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:28311400-28319000	Weak transcription	Spleen	Spleen
16	chr3:28311600-28319200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:28313400-28322800	Weak transcription	Colonic Mucosa	Colon
18	chr3:28313800-28317200	ZNF genes & repeats	GM12878-XiMat	blood
19	chr3:28314200-28332400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:28314400-28317600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:28314400-28318600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr3:28314400-28332400	Weak transcription	Ovary	ovary
23	chr3:28314400-28365400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:28314600-28317400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr3:28314600-28332600	Weak transcription	Left Ventricle	heart
26	chr3:28314800-28343400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr3:28315000-28332400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr3:28315000-28333000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:28315000-28363000	Weak transcription	A549	lung
30	chr3:28315200-28332200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:28315400-28320800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr3:28315600-28319200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr3:28315600-28325800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr3:28315600-28326400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr3:28315600-28332400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:28315600-28332400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr3:28315600-28332400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr3:28315800-28317600	ZNF genes & repeats	Fetal Muscle Leg	muscle
39	chr3:28315800-28318200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr3:28315800-28318400	Weak transcription	Fetal Kidney	kidney
41	chr3:28315800-28320600	Weak transcription	Colon Smooth Muscle	Colon
42	chr3:28315800-28321200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:28315800-28332200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr3:28315800-28332200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr3:28315800-28332400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr3:28316000-28317200	Strong transcription	Primary hematopoietic stem cells	blood
47	chr3:28316000-28322200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:28316000-28332000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr3:28316200-28317400	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr3:28316200-28317600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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