Variant report

Variant	rs1428922
Chromosome Location	chr19:42379780-42379781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr19:42379161-42379928	K562	blood:	n/a	n/a
2	ELF1	chr19:42379343-42379870	GM12878	blood:	n/a	n/a
3	FOXM1	chr19:42379338-42380030	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:42379569-42379789	Hela-S3	cervix:	n/a	n/a
5	BCL3	chr19:42379426-42379996	A549	lung:	n/a	n/a
6	BCLAF1	chr19:42379426-42379855	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:42379567-42379825	GM12878	blood:	n/a	n/a
8	MXI1	chr19:42379455-42379868	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:42379363-42380248	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:42379565-42379877	HepG2	liver:	n/a	n/a
11	ELK1	chr19:42379576-42379901	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:42379684-42379852	GM12878	blood:	n/a	n/a
13	NFATC1	chr19:42379472-42379905	GM12878	blood:	n/a	n/a
14	EBF1	chr19:42379451-42379844	GM12878	blood:	n/a	chr19:42379614-42379625
15	TBL1XR1	chr19:42379485-42379955	GM12878	blood:	n/a	n/a
16	MTA3	chr19:42379342-42380493	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:42379523-42379906	GM12891	blood:	n/a	n/a
18	TBP	chr19:42379403-42379860	GM12878	blood:	n/a	n/a
19	PAX5	chr19:42379431-42379928	GM12878	blood:	n/a	n/a
20	MAX	chr19:42379490-42379839	K562	blood:	n/a	n/a
21	BCL3	chr19:42379500-42380296	A549	lung:	n/a	n/a
22	EP300	chr19:42379459-42379966	GM12878	blood:	n/a	n/a
23	PML	chr19:42379532-42379823	GM12878	blood:	n/a	n/a
24	EP300	chr19:42379544-42379806	GM12878	blood:	n/a	n/a
25	POLR2A	chr19:42379472-42379840	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr19:42370111-42380312	SK-N-MC	brain:	n/a	n/a
27	PAX5	chr19:42379517-42379803	GM12878	blood:	n/a	n/a
28	POLR2A	chr19:42379458-42379892	GM18505	blood:	n/a	n/a
29	SMC3	chr19:42379541-42379842	GM12878	blood:	n/a	n/a
30	POLR2A	chr19:42379429-42380233	Raji	blood:	n/a	n/a
31	RUNX3	chr19:42379385-42379942	GM12878	blood:	n/a	n/a
32	POLR2A	chr19:42379505-42380142	GM12878	blood:	n/a	n/a
33	MAX	chr19:42379473-42379789	GM12878	blood:	n/a	n/a
34	PAX5	chr19:42379498-42379853	GM12878	blood:	n/a	n/a
35	CUX1	chr19:42379598-42379932	GM12878	blood:	n/a	n/a
36	ATF2	chr19:42379382-42379885	GM12878	blood:	n/a	n/a
37	SP1	chr19:42379496-42379894	GM12878	blood:	n/a	n/a
38	POLR2A	chr19:42375672-42379985	MCF10A-Er-Src	breast:	n/a	n/a
39	NFATC1	chr19:42379471-42379901	GM12878	blood:	n/a	n/a
40	POLR2A	chr19:42379567-42379932	GM12878	blood:	n/a	n/a
41	RELA	chr19:42379502-42379990	GM19099	blood:	n/a	n/a
42	RUNX3	chr19:42379408-42379885	GM12878	blood:	n/a	n/a
43	BHLHE40	chr19:42379514-42379851	K562	blood:	n/a	n/a
44	MAZ	chr19:42379448-42379905	GM12878	blood:	n/a	n/a
45	CHD2	chr19:42379549-42379860	GM12878	blood:	n/a	n/a
46	POLR2A	chr19:42379507-42379885	GM12891	blood:	n/a	n/a
47	ZNF384	chr19:42379198-42380034	GM12878	blood:	n/a	n/a
48	EBF1	chr19:42379411-42379905	GM12878	blood:	n/a	chr19:42379614-42379625
49	EBF1	chr19:42379501-42379846	GM12878	blood:	n/a	chr19:42379614-42379625
50	POLR2A	chr19:42379471-42380162	GM12891	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42379744-42379794	HRCEpiC	kidney:	n/a
2	chr19:42379744-42379794	NHBE	bronchial:	n/a
3	chr19:42379744-42379794	IMR90	lung:	fetal
4	chr19:42379744-42379794	SK-N-MC	brain:	n/a
5	chr19:42379744-42379794	RPTEC	kidney:	n/a
6	chr19:42379744-42379794	NHDF-neo	bronchial:	n/a
7	chr19:42379744-42379794	BJ	skin:	n/a
8	chr19:42379744-42379794	HRE	kidney:	n/a
9	chr19:42379744-42379794	T-47D	breast:	n/a
10	chr19:42379744-42379794	AG04450	lung:	fetal
11	chr19:42379744-42379794	A549	lung:	n/a
12	chr19:42379744-42379794	MCF-7	breast:	n/a
13	chr19:42379744-42379794	AG09319	gingival:	n/a
14	chr19:42379744-42379794	HRPEpiC	eye:	n/a
15	chr19:42379744-42379794	BE2_C	brain:	n/a
16	chr19:42379744-42379794	LNCaP	prostate:	n/a
17	chr19:42379744-42379794	NH-A	brain:	n/a
18	chr19:42379744-42379794	ovcar-3	ovarian:	n/a
19	chr19:42379744-42379794	K562	blood:	n/a
20	chr19:42379744-42379794	HepG2	liver:	n/a
21	chr19:42379744-42379794	HMEC	breast:	n/a
22	chr19:42379744-42379794	Hepatocyte	liver:	n/a
23	chr19:42379744-42379794	HCPEpiC	choroid plexus:	n/a
24	chr19:42379744-42379794	HCT-116	colon:	n/a
25	chr19:42379744-42379794	ProgFib	skin:	n/a
26	chr19:42379744-42379794	AG04449	skin:	fetal
27	chr19:42379744-42379794	AoSMC	blood vessel:	n/a
28	chr19:42379744-42379794	GM12891	blood:	n/a
29	chr19:42379744-42379794	MCF10A-Er-Src	breast:	n/a
30	chr19:42379744-42379794	PrEC	prostate:	n/a
31	chr19:42379744-42379794	ECC-1	luminal epithelium:	n/a
32	chr19:42379744-42379794	HAEpiC	amniotic membrane:	n/a
33	chr19:42379744-42379794	Jurkat	blood:	n/a
34	chr19:42379744-42379794	HUVEC	blood vessel:	n/a
35	chr19:42379744-42379794	NT2-D1	testis:	n/a
36	chr19:42379744-42379794	HPAEpiC	pulmonary alveolar:	n/a
37	chr19:42379744-42379794	Hela-S3	cervix:	n/a
38	chr19:42379744-42379794	SK-N-SH	brain:	n/a
39	chr19:42379744-42379794	SKMC	muscle:	n/a
40	chr19:42379744-42379794	U87	brain:	n/a
41	chr19:42379744-42379794	HIPEpiC	eye:	n/a
42	chr19:42379744-42379794	SAEC	small airway:	n/a
43	chr19:42379744-42379794	H1-hESC	embryonic stem cell:	embryo
44	chr19:42379744-42379794	HCF	heart:	n/a
45	chr19:42379744-42379794	HL-60	blood:	n/a
46	chr19:42379744-42379794	SK-N-SH_RA	brain:	n/a
47	chr19:42379744-42379794	GM12892	blood:	n/a
48	chr19:42379744-42379794	PANC-1	pancreas:	n/a
49	chr19:42379744-42379794	HEEpiC	esophagus:	n/a
50	chr19:42379744-42379794	GM06990	blood:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42373799..42381047-chr19:42460989..42465067,14	K562	blood:
2	chr19:42378499..42381176-chr19:42422747..42425494,2	MCF-7	breast:
3	chr19:42375885..42381575-chr19:42432655..42439530,9	K562	blood:
4	chr19:42378071..42380066-chr19:42429626..42432415,2	MCF-7	breast:
5	chr19:42377383..42379799-chr19:42454565..42456876,2	MCF-7	breast:
6	chr19:42377500..42380123-chr19:42404788..42407614,2	MCF-7	breast:
7	chr19:42379146..42381960-chr19:42461841..42465419,3	MCF-7	breast:
8	chr19:42373231..42374863-chr19:42378109..42381070,2	MCF-7	breast:

No data

Variant related genes	Relation type
CD79A	TF binding region
CD79A	CpG island
ENSG00000105404	Chromatin interaction
ENSG00000076928	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10405900	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10415452	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10417985	0.85[CEU][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12461099	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12461131	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12984383	0.85[CEU][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1366610	0.81[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2075749	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2075750	0.85[CEU][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2075752	0.85[CEU][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2075754	0.81[CEU][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2290695	0.83[AFR][1000 genomes]
rs3786536	0.82[CEU][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3786538	0.81[CEU][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3810153	0.98[ASN][1000 genomes]
rs58857981	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7250787	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7254214	0.85[CEU][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7257666	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7258163	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7259596	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7259967	1.00[CEU][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73549152	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8102670	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs873282	0.81[CEU][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs882520	0.99[ASN][1000 genomes]
rs891167	0.91[ASN][1000 genomes]
rs930102	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[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	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
7	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1428922	RABAC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42369600-42386400	Weak transcription	Fetal Kidney	kidney
2	chr19:42373800-42381400	Enhancers	Primary hematopoietic stem cells	blood
3	chr19:42374600-42379800	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr19:42374600-42386600	Weak transcription	Right Atrium	heart
5	chr19:42374800-42380600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:42374800-42381400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:42374800-42381400	Enhancers	Primary T cells fromperipheralblood	blood
8	chr19:42374800-42381400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr19:42374800-42381400	Weak transcription	Small Intestine	intestine
10	chr19:42374800-42381800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:42375000-42381200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:42375400-42380200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr19:42375400-42386200	Weak transcription	Hela-S3	cervix
14	chr19:42376000-42381000	Weak transcription	HepG2	liver
15	chr19:42376000-42386400	Weak transcription	Brain Anterior Caudate	brain
16	chr19:42376000-42386400	Weak transcription	Fetal Lung	lung
17	chr19:42376000-42386600	Weak transcription	HSMMtube	muscle
18	chr19:42376200-42380200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:42376200-42380600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr19:42376200-42381000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr19:42376200-42381600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:42376200-42386400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:42376200-42386400	Weak transcription	Psoas Muscle	Psoas
24	chr19:42376400-42379800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr19:42376400-42379800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:42376400-42380600	Weak transcription	NHEK	skin
27	chr19:42376400-42380800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr19:42376400-42380800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:42376400-42381000	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr19:42376400-42381800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr19:42376400-42386400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:42376400-42386400	Weak transcription	Brain Substantia Nigra	brain
33	chr19:42376400-42386400	Weak transcription	Colon Smooth Muscle	Colon
34	chr19:42376400-42386400	Weak transcription	Esophagus	oesophagus
35	chr19:42376400-42386400	Weak transcription	Gastric	stomach
36	chr19:42376400-42386400	Weak transcription	Left Ventricle	heart
37	chr19:42376400-42386400	Weak transcription	HMEC	breast
38	chr19:42376400-42386400	Weak transcription	HUVEC	blood vessel
39	chr19:42376600-42379800	Enhancers	Primary B cells from peripheral blood	blood
40	chr19:42376600-42379800	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr19:42376600-42380600	Weak transcription	NHLF	lung
42	chr19:42376600-42381000	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr19:42376600-42381000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr19:42376600-42381000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr19:42376600-42385200	Weak transcription	Right Ventricle	heart
46	chr19:42376600-42386400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr19:42376600-42386400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:42376600-42386400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr19:42376600-42386400	Weak transcription	Lung	lung
50	chr19:42376600-42386600	Weak transcription	NHDF-Ad	bronchial

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