Variant report

Variant	rs2075749
Chromosome Location	chr19:42365004-42365005
allele	C/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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42362804..42368897-chr19:42386582..42393421,16	MCF-7	breast:
2	chr19:42351673..42358248-chr19:42360570..42366998,12	K562	blood:
3	chr19:42347384..42349576-chr19:42363024..42365083,2	K562	blood:
4	chr19:42362767..42365637-chr19:42577892..42581321,5	K562	blood:
5	chr19:42333324..42335444-chr19:42364379..42366261,2	K562	blood:
6	chr12:54678901..54681605-chr19:42364228..42365826,2	K562	blood:
7	chr19:42361051..42365836-chr19:42460461..42465209,10	K562	blood:
8	chr19:42364075..42365757-chr19:42408269..42410021,2	K562	blood:
9	chr19:42361938..42366462-chr19:42459916..42465209,13	K562	blood:
10	chr19:42333324..42335444-chr19:42363709..42366261,3	K562	blood:
11	chr19:42362802..42365669-chr19:42579542..42583856,4	MCF-7	breast:
12	chr19:42363979..42365756-chr19:42409559..42411922,2	MCF-7	breast:
13	chr19:42363781..42365777-chr19:42424724..42427512,3	K562	blood:
14	chr19:42347384..42349429-chr19:42363024..42365795,2	K562	blood:
15	chr11:62599152..62599822-chr19:42364246..42365008,2	Hela-S3	cervix:
16	chr19:42362818..42366371-chr19:42406679..42410305,7	MCF-7	breast:
17	chr19:42362719..42367011-chr19:42578185..42581831,5	K562	blood:
18	chr19:42362466..42365153-chr19:42745908..42747542,2	K562	blood:
19	chr19:42364213..42366472-chr19:42430072..42433705,3	K562	blood:
20	chr19:42362135..42368129-chr19:42461941..42464761,7	MCF-7	breast:
21	chr19:42361079..42367934-chr19:42431466..42436133,8	K562	blood:
22	chr19:42362252..42368846-chr19:42460307..42464966,15	MCF-7	breast:
23	chr19:42348714..42350614-chr19:42362981..42365600,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256690	Chromatin interaction
ENSG00000162236	Chromatin interaction
ENSG00000269119	Chromatin interaction
ENSG00000076928	Chromatin interaction
ENSG00000204957	Chromatin interaction
ENSG00000142025	Chromatin interaction
ENSG00000135486	Chromatin interaction
ENSG00000105732	Chromatin interaction
ENSG00000183103	Chromatin interaction
ENSG00000105723	Chromatin interaction
ENSG00000105404	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10404939	0.82[ASN][1000 genomes]
rs10405900	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10414356	0.83[ASN][1000 genomes]
rs10415452	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10417985	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10500284	0.84[ASN][1000 genomes]
rs12461099	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12461131	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12976571	0.82[ASN][1000 genomes]
rs12984383	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1366610	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1428922	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1457144	0.82[ASN][1000 genomes]
rs1870093	0.81[ASN][1000 genomes]
rs2075750	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2075752	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2075754	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2290695	0.82[ASN][1000 genomes]
rs2305809	0.84[ASN][1000 genomes]
rs3786536	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3786538	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3810153	0.86[ASN][1000 genomes]
rs3922888	0.83[ASN][1000 genomes]
rs4130852	0.83[ASN][1000 genomes]
rs4803511	0.83[ASN][1000 genomes]
rs4803512	0.83[ASN][1000 genomes]
rs58857981	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6509001	0.84[ASN][1000 genomes]
rs7248641	0.82[ASN][1000 genomes]
rs7250787	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7254214	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7257666	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7258163	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7259596	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7259967	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73549152	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8102670	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8104958	0.82[ASN][1000 genomes]
rs8113780	0.82[ASN][1000 genomes]
rs873282	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs882520	0.86[ASN][1000 genomes]
rs891167	0.82[AMR][1000 genomes]
rs930102	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv1061878	chr19:42325490-42416056	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv911776	chr19:42343526-42416056	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv911777	chr19:42357455-42521108	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv911778	chr19:42358362-42416056	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2075749	RABAC1	Cis_1M	lymphoblastoid	RTeQTL
rs2075749	RPS19	cis	Esophagus Muscularis	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42363200-42365200	Active TSS	Fetal Kidney	kidney
2	chr19:42363400-42365200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr19:42363400-42365200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr19:42363400-42365200	Active TSS	Aorta	Aorta
5	chr19:42363400-42365200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr19:42363400-42365200	Active TSS	Ovary	ovary
7	chr19:42363400-42365200	Active TSS	Small Intestine	intestine
8	chr19:42363400-42365200	Active TSS	HSMMtube	muscle
9	chr19:42363400-42365400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr19:42363400-42365400	Active TSS	GM12878-XiMat	blood
11	chr19:42363400-42365600	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr19:42363400-42365600	Active TSS	Psoas Muscle	Psoas
13	chr19:42363600-42365200	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr19:42363600-42365200	Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr19:42363600-42365200	Active TSS	Fetal Intestine Large	intestine
16	chr19:42363600-42365200	Active TSS	Thymus	Thymus
17	chr19:42363600-42365200	Active TSS	Hela-S3	cervix
18	chr19:42363600-42365200	Active TSS	HSMM	muscle
19	chr19:42363600-42365200	Active TSS	NH-A	brain
20	chr19:42363800-42365200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:42363800-42365400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:42364000-42365200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:42364400-42365200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:42364400-42367600	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
25	chr19:42364600-42365200	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr19:42364600-42365200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr19:42364600-42365200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr19:42364600-42365200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr19:42364600-42365400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr19:42364600-42365400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr19:42364600-42365400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr19:42364600-42365400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr19:42364600-42365400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:42364600-42365400	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr19:42364600-42365600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr19:42364600-42366800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
37	chr19:42364600-42366800	Transcr. at gene 5' and 3'	HMEC	breast
38	chr19:42364600-42367600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:42364600-42367800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
40	chr19:42364600-42367800	Transcr. at gene 5' and 3'	A549	lung
41	chr19:42364600-42368800	Transcr. at gene 5' and 3'	Dnd41	blood
42	chr19:42364600-42369000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:42364800-42365200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr19:42364800-42365200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr19:42364800-42365200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:42364800-42365200	Active TSS	Brain Germinal Matrix	brain
47	chr19:42364800-42365200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr19:42364800-42365200	Flanking Active TSS	Left Ventricle	heart
49	chr19:42364800-42365200	Flanking Active TSS	Pancreas	Pancrea
50	chr19:42364800-42365200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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