Variant report

Variant	rs2385116
Chromosome Location	chr19:38142937-38142938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38136998..38138524-chr19:38142889..38145003,2	MCF-7	breast:
2	chr19:38131156..38133498-chr19:38141254..38142957,2	MCF-7	breast:
3	chr19:38142585..38144601-chr19:38145165..38147382,2	K562	blood:
4	chr19:38139680..38143169-chr19:38144520..38148177,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120784	Chromatin interaction

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

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

rs_ID	r²[population]
rs1038085	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10417204	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10425671	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11665877	0.90[EUR][1000 genomes]
rs11667454	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11667457	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668434	0.92[EUR][1000 genomes]
rs11668558	0.91[EUR][1000 genomes]
rs11670655	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11672077	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11883392	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12972712	0.91[EUR][1000 genomes]
rs12981237	0.90[EUR][1000 genomes]
rs12982288	0.91[EUR][1000 genomes]
rs12983298	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17306508	0.88[EUR][1000 genomes]
rs1871197	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2045909	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2160640	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2199644	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2291000	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2385124	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2385125	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs241947	0.86[EUR][1000 genomes]
rs241953	0.85[EUR][1000 genomes]
rs2909106	0.84[EUR][1000 genomes]
rs2927741	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972456	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112435	0.91[EUR][1000 genomes]
rs34351186	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34607899	0.92[EUR][1000 genomes]
rs34782935	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34949193	0.85[EUR][1000 genomes]
rs35015599	0.91[EUR][1000 genomes]
rs35214625	0.91[EUR][1000 genomes]
rs35273320	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35415221	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36020184	0.89[EUR][1000 genomes]
rs36092052	0.89[EUR][1000 genomes]
rs3752365	0.91[EUR][1000 genomes]
rs4273159	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4482404	0.91[EUR][1000 genomes]
rs4802066	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4803228	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57308437	0.91[EUR][1000 genomes]
rs62108304	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62108339	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62108355	0.89[EUR][1000 genomes]
rs6508738	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7253174	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254170	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254828	0.89[EUR][1000 genomes]
rs8111055	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs856302	0.86[EUR][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	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 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	chr19:38124800-38143200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:38124800-38144400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:38125600-38143200	ZNF genes & repeats	A549	lung
4	chr19:38126200-38143200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:38127200-38144600	Weak transcription	Hela-S3	cervix
6	chr19:38134200-38144600	Weak transcription	NHLF	lung
7	chr19:38134400-38145000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr19:38134400-38145000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr19:38135000-38144200	Weak transcription	Fetal Heart	heart
10	chr19:38135800-38144400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:38137200-38144400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr19:38138400-38145000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:38138600-38143200	Weak transcription	Fetal Brain Male	brain
14	chr19:38138600-38144000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr19:38138600-38144600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr19:38138600-38144600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr19:38138600-38144800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr19:38138600-38144800	Weak transcription	Right Ventricle	heart
19	chr19:38138800-38144200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr19:38138800-38144200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr19:38138800-38144600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr19:38138800-38144600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:38138800-38144600	Weak transcription	Fetal Kidney	kidney
24	chr19:38138800-38144600	Weak transcription	HSMMtube	muscle
25	chr19:38138800-38144600	Weak transcription	K562	blood
26	chr19:38139000-38143800	Weak transcription	Psoas Muscle	Psoas
27	chr19:38139000-38144000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:38139000-38144600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:38139000-38144600	Weak transcription	Stomach Mucosa	stomach
30	chr19:38139000-38144600	Weak transcription	NHEK	skin
31	chr19:38139000-38144800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr19:38139000-38145200	Weak transcription	Placenta	Placenta
33	chr19:38139200-38144000	Weak transcription	HepG2	liver
34	chr19:38139200-38144200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr19:38139200-38144400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr19:38139200-38144400	Weak transcription	HUVEC	blood vessel
37	chr19:38139200-38144600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:38139200-38144600	Weak transcription	Brain Angular Gyrus	brain
39	chr19:38139200-38144600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr19:38139200-38144600	Weak transcription	Brain Substantia Nigra	brain
41	chr19:38139200-38144600	Weak transcription	Fetal Muscle Leg	muscle
42	chr19:38139200-38144600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr19:38139200-38144600	Weak transcription	Thymus	Thymus
44	chr19:38139200-38144800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr19:38139200-38144800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr19:38139200-38144800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr19:38139200-38144800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr19:38139200-38144800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr19:38139200-38144800	Weak transcription	Left Ventricle	heart
50	chr19:38139200-38145400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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