Variant report

Variant	rs954496
Chromosome Location	chr17:63204829-63204830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:63200961..63203579-chr17:63204098..63206713,2	K562	blood:
2	chr17:63203039..63206876-chr17:63207747..63211148,3	MCF-7	breast:
3	chr17:63204633..63206488-chr17:63207095..63209567,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs16960828	1.00[EUR][1000 genomes]
rs16960834	1.00[EUR][1000 genomes]
rs16961446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16961700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16962050	1.00[EUR][1000 genomes]
rs2109447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2137976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2869585	1.00[EUR][1000 genomes]
rs2869587	1.00[EUR][1000 genomes]
rs2904133	1.00[EUR][1000 genomes]
rs378764	1.00[EUR][1000 genomes]
rs385608	1.00[EUR][1000 genomes]
rs4129027	1.00[EUR][1000 genomes]
rs55944145	1.00[EUR][1000 genomes]
rs55963637	1.00[EUR][1000 genomes]
rs55990302	1.00[EUR][1000 genomes]
rs56081678	1.00[EUR][1000 genomes]
rs56264686	1.00[EUR][1000 genomes]
rs56719687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56818563	1.00[EUR][1000 genomes]
rs57088441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57311249	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57411829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57859065	1.00[EUR][1000 genomes]
rs58606080	1.00[EUR][1000 genomes]
rs59024552	1.00[EUR][1000 genomes]
rs59203896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59400153	1.00[EUR][1000 genomes]
rs60051589	1.00[EUR][1000 genomes]
rs60264965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60320143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60568462	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61070431	1.00[EUR][1000 genomes]
rs61534937	1.00[EUR][1000 genomes]
rs6504283	1.00[EUR][1000 genomes]
rs6504284	1.00[EUR][1000 genomes]
rs6504286	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7217524	1.00[EUR][1000 genomes]
rs7217548	1.00[EUR][1000 genomes]
rs7218518	1.00[EUR][1000 genomes]
rs7220188	1.00[EUR][1000 genomes]
rs7223308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73349122	1.00[EUR][1000 genomes]
rs73994750	1.00[EUR][1000 genomes]
rs73994752	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73994754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73994756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73994757	1.00[EUR][1000 genomes]
rs73994758	1.00[EUR][1000 genomes]
rs73994760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73994761	1.00[EUR][1000 genomes]
rs73994763	1.00[EUR][1000 genomes]
rs73994764	1.00[EUR][1000 genomes]
rs73994765	1.00[EUR][1000 genomes]
rs73994766	1.00[EUR][1000 genomes]
rs73994767	1.00[EUR][1000 genomes]
rs73994770	1.00[EUR][1000 genomes]
rs73994771	1.00[EUR][1000 genomes]
rs73994772	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73994774	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73994782	1.00[EUR][1000 genomes]
rs73994788	1.00[EUR][1000 genomes]
rs73994790	1.00[EUR][1000 genomes]
rs73994792	1.00[EUR][1000 genomes]
rs73994793	1.00[EUR][1000 genomes]
rs7503762	1.00[EUR][1000 genomes]
rs8065438	1.00[EUR][1000 genomes]
rs8065444	1.00[EUR][1000 genomes]
rs8066063	1.00[EUR][1000 genomes]
rs8066072	1.00[EUR][1000 genomes]
rs8066092	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8066191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8068016	1.00[EUR][1000 genomes]
rs8071641	1.00[EUR][1000 genomes]
rs8073544	1.00[EUR][1000 genomes]
rs8073716	1.00[EUR][1000 genomes]
rs8074507	1.00[EUR][1000 genomes]
rs8077510	1.00[EUR][1000 genomes]
rs8077956	1.00[EUR][1000 genomes]
rs8078032	1.00[EUR][1000 genomes]
rs8078045	1.00[EUR][1000 genomes]
rs8078298	1.00[EUR][1000 genomes]
rs8078885	1.00[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	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63176400-63223800	Weak transcription	Lung	lung
2	chr17:63181800-63209600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr17:63193800-63209800	Weak transcription	Dnd41	blood
4	chr17:63195000-63205000	Weak transcription	Brain Substantia Nigra	brain
5	chr17:63195000-63205400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr17:63195000-63212400	Weak transcription	Pancreas	Pancrea
7	chr17:63195200-63209000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr17:63199000-63217200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr17:63199200-63211800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr17:63200000-63206400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr17:63201200-63209600	Weak transcription	Gastric	stomach
12	chr17:63203200-63208200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:63203400-63206800	Enhancers	Brain Germinal Matrix	brain
14	chr17:63203800-63205800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:63203800-63206000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr17:63204000-63205800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr17:63204000-63205800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr17:63204000-63207400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr17:63204000-63208600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr17:63204200-63205000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr17:63204200-63205200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr17:63204200-63205800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr17:63204200-63205800	Enhancers	Brain Anterior Caudate	brain
24	chr17:63204400-63205000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr17:63204400-63205400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr17:63204400-63205800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr17:63204600-63205400	Enhancers	Brain Hippocampus Middle	brain
28	chr17:63204800-63205400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr17:63204800-63205400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr17:63204800-63205800	Enhancers	Brain Cingulate Gyrus	brain

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