Variant report

Variant	rs60566979
Chromosome Location	chr18:9594845-9594846
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9593651..9596050-chr18:9613258..9616024,2	MCF-7	breast:
2	chr18:9593285..9595195-chr18:9598496..9600998,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIEZO2-14	chr18:9594823-9595151	NONHSAT057228

Variant related genes	Relation type
ENSG00000154845	Chromatin interaction
ENSG00000263627	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs56233721	1.00[AMR][1000 genomes]
rs56838001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59755487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60902767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62088866	0.86[AFR][1000 genomes]
rs73939881	1.00[AMR][1000 genomes]
rs73939882	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939888	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939890	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73942107	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73942110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73942111	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73942114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv543644	chr18:9576145-9612516	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9545800-9595200	Strong transcription	Dnd41	blood
2	chr18:9551000-9612200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr18:9553800-9613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:9576200-9597800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr18:9578400-9595200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:9581000-9595400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr18:9581400-9595800	Weak transcription	Brain Angular Gyrus	brain
8	chr18:9581400-9609200	Weak transcription	Pancreas	Pancrea
9	chr18:9582000-9597000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr18:9582800-9597600	Weak transcription	Fetal Brain Male	brain
11	chr18:9583400-9595000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr18:9583600-9595000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr18:9584800-9596600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr18:9585000-9597200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr18:9586600-9595200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr18:9588200-9595800	Weak transcription	Spleen	Spleen
17	chr18:9588600-9595000	Weak transcription	Right Ventricle	heart
18	chr18:9588600-9612400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr18:9588800-9595000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr18:9588800-9595800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr18:9589000-9595000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr18:9589000-9595000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr18:9589000-9595000	Weak transcription	A549	lung
24	chr18:9589000-9595200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr18:9589000-9595400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr18:9589000-9596800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr18:9589000-9597200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr18:9589000-9597200	Weak transcription	Ovary	ovary
29	chr18:9589000-9608800	Weak transcription	Thymus	Thymus
30	chr18:9589000-9609200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr18:9589000-9611000	Weak transcription	Lung	lung
32	chr18:9589200-9598200	Weak transcription	Primary B cells from cord blood	blood
33	chr18:9589200-9599200	Weak transcription	Fetal Kidney	kidney
34	chr18:9589400-9595000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr18:9590800-9595200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr18:9590800-9597600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr18:9591000-9595000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr18:9591600-9595200	Strong transcription	K562	blood
39	chr18:9591600-9597000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr18:9592000-9597400	Weak transcription	Fetal Brain Female	brain
41	chr18:9592400-9597000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr18:9592400-9599400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr18:9592600-9595200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr18:9592600-9597000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr18:9592600-9599800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr18:9593000-9598800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr18:9593800-9595000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr18:9593800-9595000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr18:9593800-9595000	Weak transcription	HUVEC	blood vessel
50	chr18:9594000-9595000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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