Variant report

Variant	rs12461099
Chromosome Location	chr19:42365964-42365965
allele	C/T
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 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	chr19:42333324..42335444-chr19:42364379..42366261,2	K562	blood:
4	chr19:42365213..42368096-chr19:42429393..42431288,2	K562	blood:
5	chr19:42361938..42366462-chr19:42459916..42465209,13	K562	blood:
6	chr19:42333324..42335444-chr19:42363709..42366261,3	K562	blood:
7	chr19:42362818..42366371-chr19:42406679..42410305,7	MCF-7	breast:
8	chr19:42362719..42367011-chr19:42578185..42581831,5	K562	blood:
9	chr19:42364213..42366472-chr19:42430072..42433705,3	K562	blood:
10	chr19:42245127..42247870-chr19:42365049..42367593,2	MCF-7	breast:
11	chr19:42362135..42368129-chr19:42461941..42464761,7	MCF-7	breast:
12	chr19:42361079..42367934-chr19:42431466..42436133,8	K562	blood:
13	chr19:42362252..42368846-chr19:42460307..42464966,15	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000105732	Chromatin interaction
ENSG00000076928	Chromatin interaction
ENSG00000269119	Chromatin interaction
ENSG00000105404	Chromatin interaction
ENSG00000142025	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10404939	0.82[ASN][1000 genomes]
rs10405900	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10414356	0.84[ASN][1000 genomes]
rs10415452	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10417985	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10500284	0.85[ASN][1000 genomes]
rs12461131	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12976571	0.82[ASN][1000 genomes]
rs12984383	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1366610	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1428922	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1457144	0.82[ASN][1000 genomes]
rs1870093	0.82[ASN][1000 genomes]
rs2075749	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2075750	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2075752	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2075754	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2290695	0.82[ASN][1000 genomes]
rs2305809	0.85[ASN][1000 genomes]
rs3786536	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3786538	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3810153	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3922888	0.84[ASN][1000 genomes]
rs4130852	0.84[ASN][1000 genomes]
rs4803511	0.84[ASN][1000 genomes]
rs4803512	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs58857981	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6509001	0.85[ASN][1000 genomes]
rs7248641	0.82[ASN][1000 genomes]
rs7250787	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7254214	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7257666	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7258163	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7259596	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7259967	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73549152	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8102670	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8104958	0.82[ASN][1000 genomes]
rs8113780	0.82[ASN][1000 genomes]
rs873282	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882520	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs891167	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs930102	0.93[AMR][1000 genomes];0.97[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12461099	RABAC1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42364400-42367600	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
2	chr19:42364600-42366800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
3	chr19:42364600-42366800	Transcr. at gene 5' and 3'	HMEC	breast
4	chr19:42364600-42367600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr19:42364600-42367800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
6	chr19:42364600-42367800	Transcr. at gene 5' and 3'	A549	lung
7	chr19:42364600-42368800	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr19:42364600-42369000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr19:42364800-42366000	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
10	chr19:42364800-42366200	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
11	chr19:42364800-42366600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
12	chr19:42364800-42367000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:42364800-42367000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:42364800-42367000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
15	chr19:42364800-42367200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
16	chr19:42364800-42367200	Transcr. at gene 5' and 3'	K562	blood
17	chr19:42364800-42367200	Transcr. at gene 5' and 3'	NHEK	skin
18	chr19:42364800-42367400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr19:42364800-42367600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
20	chr19:42364800-42367600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
21	chr19:42364800-42367600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr19:42364800-42367600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:42364800-42367800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:42364800-42367800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
25	chr19:42364800-42369000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr19:42365000-42366000	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
27	chr19:42365000-42366000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:42365000-42366000	Flanking Active TSS	Colonic Mucosa	Colon
29	chr19:42365000-42366000	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
30	chr19:42365000-42366600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:42365000-42366800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr19:42365000-42367000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr19:42365000-42367000	Transcr. at gene 5' and 3'	NHLF	lung
34	chr19:42365000-42367000	Transcr. at gene 5' and 3'	Osteobl	bone
35	chr19:42365000-42367600	Transcr. at gene 5' and 3'	HepG2	liver
36	chr19:42365200-42366000	Transcr. at gene 5' and 3'	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr19:42365200-42366000	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
38	chr19:42365200-42366000	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
39	chr19:42365200-42366000	Enhancers	Placenta Amnion	Placenta Amnion
40	chr19:42365200-42366200	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:42365200-42366200	Enhancers	Small Intestine	intestine
42	chr19:42365200-42366400	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:42365200-42366600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:42365200-42366800	Transcr. at gene 5' and 3'	NH-A	brain
45	chr19:42365200-42367000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
46	chr19:42365200-42367200	Transcr. at gene 5' and 3'	HSMM	muscle
47	chr19:42365200-42367200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
48	chr19:42365200-42367400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
49	chr19:42365200-42367400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr19:42365200-42368800	Genic enhancers	Spleen	Spleen

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