Variant report

Variant	rs4985528
Chromosome Location	chr16:69812605-69812606
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10400956	0.87[ASN][1000 genomes]
rs11075736	0.81[ASN][1000 genomes]
rs12149920	0.90[ASN][1000 genomes]
rs1318651	0.82[ASN][1000 genomes]
rs2088747	0.81[ASN][1000 genomes]
rs2291960	0.82[ASN][1000 genomes]
rs2937120	0.82[ASN][1000 genomes]
rs2937123	0.82[ASN][1000 genomes]
rs2937126	0.86[ASN][1000 genomes]
rs2937127	0.85[ASN][1000 genomes]
rs2965756	0.82[ASN][1000 genomes]
rs2965759	0.81[ASN][1000 genomes]
rs2965760	0.81[ASN][1000 genomes]
rs2965761	0.81[ASN][1000 genomes]
rs2965762	0.83[ASN][1000 genomes]
rs2965763	0.83[ASN][1000 genomes]
rs2965764	0.83[ASN][1000 genomes]
rs3790088	0.82[ASN][1000 genomes]
rs4247109	0.80[ASN][1000 genomes]
rs4608327	0.85[ASN][1000 genomes]
rs4619391	0.89[ASN][1000 genomes]
rs4985527	0.92[ASN][1000 genomes]
rs4985529	0.89[ASN][1000 genomes]
rs4985531	0.88[ASN][1000 genomes]
rs61090597	0.80[ASN][1000 genomes]
rs6499259	0.83[ASN][1000 genomes]
rs7188187	0.83[ASN][1000 genomes]
rs7204615	0.80[ASN][1000 genomes]
rs8050369	0.89[ASN][1000 genomes]
rs8057938	0.81[ASN][1000 genomes]
rs8058594	0.82[ASN][1000 genomes]
rs8062076	0.87[ASN][1000 genomes]
rs9927105	0.87[ASN][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	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69797400-69821200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr16:69797600-69816800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr16:69797600-69853400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:69797800-69821200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr16:69800600-69817200	Weak transcription	Fetal Stomach	stomach
6	chr16:69800600-69817600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:69802800-69821400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr16:69803000-69823400	Weak transcription	Right Ventricle	heart
9	chr16:69803400-69830200	Weak transcription	Fetal Heart	heart
10	chr16:69804800-69814400	Weak transcription	Lung	lung
11	chr16:69806800-69817600	Weak transcription	Gastric	stomach
12	chr16:69806800-69821000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr16:69806800-69821200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr16:69806800-69830200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr16:69806800-69833000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr16:69807000-69820800	Weak transcription	Spleen	Spleen
17	chr16:69807000-69821000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr16:69807000-69821400	Weak transcription	Colonic Mucosa	Colon
19	chr16:69807000-69821600	Weak transcription	Stomach Mucosa	stomach
20	chr16:69807000-69821800	Weak transcription	Brain Substantia Nigra	brain
21	chr16:69807000-69822200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr16:69807000-69822400	Weak transcription	Fetal Kidney	kidney
23	chr16:69807000-69830200	Weak transcription	NHDF-Ad	bronchial
24	chr16:69807000-69832000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr16:69807200-69816800	Weak transcription	Placenta	Placenta
26	chr16:69807200-69817200	Weak transcription	Left Ventricle	heart
27	chr16:69807200-69817600	Weak transcription	Esophagus	oesophagus
28	chr16:69807200-69821200	Weak transcription	Brain Angular Gyrus	brain
29	chr16:69807200-69830200	Weak transcription	Osteobl	bone
30	chr16:69807200-69832600	Weak transcription	NHLF	lung
31	chr16:69807200-69832800	Weak transcription	Pancreas	Pancrea
32	chr16:69807200-69852400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:69807200-69852800	Weak transcription	Hela-S3	cervix
34	chr16:69807200-69854800	Weak transcription	Psoas Muscle	Psoas
35	chr16:69807400-69816600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr16:69807400-69821400	Weak transcription	Ovary	ovary
37	chr16:69807600-69821200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr16:69807800-69818200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:69808000-69833200	Weak transcription	HSMM	muscle
40	chr16:69809200-69821800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr16:69809600-69816800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr16:69809600-69820800	Weak transcription	Brain Hippocampus Middle	brain
43	chr16:69809800-69819000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr16:69809800-69821800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr16:69810000-69821200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr16:69810000-69822400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr16:69810000-69839800	Weak transcription	HUVEC	blood vessel
48	chr16:69810200-69814200	Weak transcription	HepG2	liver
49	chr16:69810200-69814400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr16:69810200-69814400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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