Variant report

Variant	rs7254227
Chromosome Location	chr19:42820852-42820853
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:42820770-42821239	Gliobla	brain:	n/a	n/a
2	POLR2A	chr19:42820376-42821887	PFSK-1	brain:	n/a	n/a
3	MYC	chr19:42820829-42821254	K562	blood:	n/a	n/a
4	ELF1	chr19:42820630-42821258	GM12878	blood:	n/a	chr19:42821105-42821118
5	POLR2A	chr19:42820787-42821162	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:42820684-42821360	HL-60	blood:	n/a	n/a
7	ELF1	chr19:42820722-42821508	K562	blood:	n/a	chr19:42821105-42821118
8	REST	chr19:42820464-42821294	PFSK-1	brain:	n/a	chr19:42820734-42820747
9	GATA3	chr19:42820685-42820953	T-47D	breast:	n/a	n/a
10	POLR2A	chr19:42820737-42821463	GM12892	blood:	n/a	n/a
11	MTA3	chr19:42820527-42821733	GM12878	blood:	n/a	n/a
12	ELF1	chr19:42820707-42821288	K562	blood:	n/a	chr19:42821105-42821118
13	MAX	chr19:42820772-42821321	K562	blood:	n/a	chr19:42820792-42820802
14	POLR2A	chr19:42820404-42822032	PFSK-1	brain:	n/a	n/a
15	GABPA	chr19:42820782-42821240	HepG2	liver:	n/a	n/a
16	MTA3	chr19:42820506-42820973	GM12878	blood:	n/a	n/a
17	TAF1	chr19:42820733-42821535	PFSK-1	brain:	n/a	n/a
18	MAX	chr19:42820632-42821450	HepG2	liver:	n/a	chr19:42820792-42820802
19	REST	chr19:42820470-42821619	PFSK-1	brain:	n/a	chr19:42820734-42820747
20	EBF1	chr19:42820630-42820892	GM12878	blood:	n/a	n/a
21	UBTF	chr19:42820750-42820889	K562	blood:	n/a	n/a
22	GABPA	chr19:42820581-42821382	HL-60	blood:	n/a	n/a
23	SIN3AK20	chr19:42820727-42821431	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr19:42820772-42821425	HepG2	liver:	n/a	n/a
25	MXI1	chr19:42820790-42821283	HepG2	liver:	n/a	n/a
26	REST	chr19:42820499-42821657	PFSK-1	brain:	n/a	chr19:42820734-42820747
27	ELF1	chr19:42820729-42821275	HepG2	liver:	n/a	chr19:42821105-42821118
28	ZNF263	chr19:42820597-42820903	HEK293-T-REx	kidney:	n/a	chr19:42820721-42820742 chr19:42820796-42820805
29	FOXP2	chr19:42820651-42821349	PFSK-1	brain:	n/a	n/a
30	HEY1	chr19:42820828-42821366	HepG2	liver:	n/a	n/a
31	GABPA	chr19:42820685-42821299	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:42818986..42821059-chr19:42827950..42829630,2	MCF-7	breast:
2	chr19:42819448..42823717-chr19:42824551..42827641,3	MCF-7	breast:
3	chr19:42820314..42823687-chr19:42826529..42830552,5	K562	blood:
4	chr19:42820314..42825247-chr19:42826529..42830814,5	K562	blood:

Variant related genes	Relation type
TMEM145	TF binding region
ENSG00000105429	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10410653	1.00[CHB][hapmap]
rs10411498	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12610116	1.00[LWK][hapmap]
rs12978003	1.00[LWK][hapmap]
rs12985559	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs1903724	1.00[CHD][hapmap]
rs2304211	1.00[LWK][hapmap];1.00[MEX][hapmap]
rs28364793	1.00[LWK][hapmap]
rs34343924	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
5	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
6	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
7	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
8	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42814600-42821200	Enhancers	Fetal Brain Male	brain
2	chr19:42818000-42828600	Weak transcription	Right Atrium	heart
3	chr19:42818200-42828600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr19:42818200-42828800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:42818200-42829200	Weak transcription	Gastric	stomach
6	chr19:42818400-42821000	Weak transcription	Brain Anterior Caudate	brain
7	chr19:42818400-42828800	Weak transcription	Brain Angular Gyrus	brain
8	chr19:42818800-42828800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr19:42819000-42827400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr19:42819000-42828400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr19:42819600-42821600	Weak transcription	Fetal Brain Female	brain
12	chr19:42820600-42821000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr19:42820600-42821200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:42820600-42821400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:42820600-42821400	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr19:42820600-42821600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr19:42820600-42821600	Strong transcription	Brain Germinal Matrix	brain
18	chr19:42820600-42821600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr19:42820600-42821600	Enhancers	K562	blood
20	chr19:42820600-42821600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
21	chr19:42820600-42821800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr19:42820600-42821800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
23	chr19:42820600-42821800	Enhancers	A549	lung
24	chr19:42820600-42822000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:42820600-42822000	Enhancers	Spleen	Spleen
26	chr19:42820600-42822200	Flanking Active TSS	HepG2	liver
27	chr19:42820800-42821000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:42820800-42821000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr19:42820800-42821000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:42820800-42821000	Enhancers	GM12878-XiMat	blood
31	chr19:42820800-42821200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
32	chr19:42820800-42821200	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr19:42820800-42821400	Enhancers	Primary B cells from cord blood	blood
34	chr19:42820800-42821400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr19:42820800-42821400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:42820800-42821400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr19:42820800-42821400	Bivalent Enhancer	Fetal Intestine Small	intestine
38	chr19:42820800-42821600	Enhancers	Primary B cells from peripheral blood	blood
39	chr19:42820800-42821600	Enhancers	Primary T cells fromperipheralblood	blood
40	chr19:42820800-42821600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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