Variant report

Variant	rs34703567
Chromosome Location	chr19:39222696-39222697
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39205143..39205692-chr19:39222212..39222990,2	MCF-7	breast:
2	chr19:39204751..39205762-chr19:39222154..39222900,6	MCF-7	breast:
3	chr19:39215761..39217531-chr19:39221029..39224006,3	MCF-7	breast:
4	chr19:39151862..39154243-chr19:39220891..39223454,2	MCF-7	breast:
5	chr19:39221333..39224204-chr19:39224310..39227347,3	MCF-7	breast:
6	chr19:39218553..39228703-chr19:39324875..39331730,17	MCF-7	breast:
7	chr19:39219113..39222952-chr19:39339497..39343491,5	K562	blood:
8	chr19:39218752..39222924-chr19:39336082..39338597,4	K562	blood:
9	chr19:39204751..39205762-chr19:39222193..39223010,6	MCF-7	breast:
10	chr19:39217752..39221022-chr19:39222465..39225520,5	MCF-7	breast:
11	chr19:39175070..39177967-chr19:39221455..39223529,2	MCF-7	breast:
12	chr19:39221339..39223796-chr19:39333308..39334963,2	MCF-7	breast:
13	chr19:39220252..39229073-chr19:39338371..39342954,10	MCF-7	breast:
14	chr19:39210151..39212274-chr19:39220710..39223551,2	MCF-7	breast:
15	chr19:39033166..39035444-chr19:39222579..39224639,2	K562	blood:
16	chr19:39212206..39230741-chr19:39336504..39344817,33	MCF-7	breast:
17	chr19:39221109..39222867-chr19:39294750..39296802,2	MCF-7	breast:
18	chr19:39221972..39229243-chr19:39319630..39326763,11	K562	blood:
19	chr19:39138000..39140768-chr19:39215687..39223350,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104823	Chromatin interaction
ENSG00000182472	Chromatin interaction
ENSG00000130402	Chromatin interaction
ENSG00000269688	Chromatin interaction
ENSG00000104824	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1105759	0.89[ASN][1000 genomes]
rs1106372	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1136956	0.97[ASN][1000 genomes]
rs12971309	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12972987	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12972997	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12974733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12975079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12975256	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12975953	0.96[AMR][1000 genomes]
rs12976598	1.00[AMR][1000 genomes]
rs12977238	0.82[ASN][1000 genomes]
rs12978273	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12978715	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12978914	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12979947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12980399	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12981131	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12981984	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12983010	0.92[EUR][1000 genomes]
rs12983550	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12984794	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12985030	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12985558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12985871	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12986032	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12986121	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12986337	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17589359	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2001856	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2086148	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279145	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2279146	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2287728	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34026184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34054765	1.00[AMR][1000 genomes]
rs34082501	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34083318	0.82[ASN][1000 genomes]
rs34105297	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34126343	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34134906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34305426	1.00[AMR][1000 genomes]
rs34332511	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34368672	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34525537	0.91[AMR][1000 genomes]
rs34558140	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34563817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34592527	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34695688	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34717167	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34843929	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34862518	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34899634	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34911882	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35007285	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35074956	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35096737	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35134120	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35193699	0.82[ASN][1000 genomes]
rs35281901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35403788	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35436155	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35576862	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35640008	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35666464	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35685980	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35691365	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35716073	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35729716	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35807146	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35855940	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35856174	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35941349	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3786840	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs45599933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56817884	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56946356	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57230275	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60454376	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61121905	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62119101	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62119102	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62119103	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62119105	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62119109	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62119115	0.97[ASN][1000 genomes]
rs62119116	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62120068	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62120072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62120074	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62121811	0.82[ASN][1000 genomes]
rs62121819	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62121821	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62121823	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62121827	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62121829	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71356822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7246368	0.82[ASN][1000 genomes]
rs7248577	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7260070	0.82[ASN][1000 genomes]
rs8103530	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8104815	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8105055	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8105069	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8105080	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8105216	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8105550	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs899199	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs899200	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833828	chr19:39084759-39257979	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv817834	chr19:39174332-39237950	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv911668	chr19:39174669-39291771	Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	esv1826260	chr19:39178364-39248836	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	nsv911669	chr19:39196745-39231548	Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34703567	EIF3K	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39182200-39225200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:39189400-39223400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr19:39189800-39222800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr19:39190200-39222800	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr19:39190600-39222800	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr19:39190800-39222800	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr19:39190800-39223000	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr19:39190800-39223000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:39204200-39223400	Strong transcription	H9 Cell Line	embryonic stem cell
10	chr19:39210400-39223400	Strong transcription	NHLF	lung
11	chr19:39210400-39223400	Strong transcription	Osteobl	bone
12	chr19:39210600-39222800	Genic enhancers	Spleen	Spleen
13	chr19:39211200-39224000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:39211600-39223000	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr19:39212600-39222800	Strong transcription	Aorta	Aorta
16	chr19:39213000-39223400	Strong transcription	Brain Germinal Matrix	brain
17	chr19:39213200-39223600	Strong transcription	HSMMtube	muscle
18	chr19:39213400-39222800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:39213400-39223200	Strong transcription	Fetal Stomach	stomach
20	chr19:39213400-39223600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:39213400-39224400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr19:39213800-39223600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr19:39213800-39224400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:39214000-39224800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr19:39214400-39222800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:39214400-39224000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr19:39215600-39224000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr19:39215600-39224800	Genic enhancers	A549	lung
29	chr19:39216200-39223800	Weak transcription	Fetal Thymus	thymus
30	chr19:39217000-39224400	Genic enhancers	Fetal Intestine Large	intestine
31	chr19:39217200-39224400	Genic enhancers	Fetal Intestine Small	intestine
32	chr19:39217800-39222800	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr19:39217800-39224200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr19:39217800-39224200	Weak transcription	GM12878-XiMat	blood
35	chr19:39218000-39225000	Weak transcription	Primary T cells from cord blood	blood
36	chr19:39218000-39226800	Weak transcription	Psoas Muscle	Psoas
37	chr19:39218400-39224600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr19:39218600-39225200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr19:39218800-39222800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr19:39218800-39225200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr19:39218800-39226600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr19:39219000-39222800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr19:39219000-39222800	Strong transcription	NH-A	brain
44	chr19:39219000-39223400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr19:39219000-39223400	Weak transcription	Right Atrium	heart
46	chr19:39219000-39223800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr19:39219000-39224000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:39219400-39224600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr19:39219600-39223200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:39219800-39223200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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