Variant report

Variant	rs10419337
Chromosome Location	chr19:51876263-51876264
allele	A/G
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	NFIC	chr19:51875758-51876802	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:51875374-51876557	HL-60	blood:	n/a	n/a
3	POLR2A	chr19:51875870-51876351	K562	blood:	n/a	n/a
4	RUNX3	chr19:51875527-51876757	GM12878	blood:	n/a	chr19:51876107-51876124
5	MXI1	chr19:51875785-51876375	GM12878	blood:	n/a	n/a
6	SPI1	chr19:51876165-51876442	K562	blood:	n/a	chr19:51876351-51876358
7	MYC	chr19:51875444-51876506	NB4	blood:	n/a	chr19:51875952-51875961
8	STAT1	chr19:51875974-51876307	GM12878	blood:	n/a	chr19:51876192-51876201 chr19:51876193-51876202
9	YY1	chr19:51875899-51876374	GM12878	blood:	n/a	n/a
10	JUND	chr19:51875926-51876363	K562	blood:	n/a	chr19:51876244-51876253
11	TCF12	chr19:51876079-51876393	GM12878	blood:	n/a	chr19:51876294-51876304
12	TAF1	chr19:51875827-51876335	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:51875949-51876340	GM12878	blood:	n/a	n/a
14	STAT5A	chr19:51875551-51876561	GM12878	blood:	n/a	chr19:51876192-51876201 chr19:51876193-51876202 chr19:51876353-51876360
15	POLR2A	chr19:51876040-51876331	GM12878	blood:	n/a	n/a
16	PAX5	chr19:51875837-51876477	GM12878	blood:	n/a	chr19:51876351-51876360
17	POLR2A	chr19:51875561-51876495	GM12878	blood:	n/a	n/a
18	USF2	chr19:51875839-51876286	GM12878	blood:	n/a	n/a
19	EBF1	chr19:51875853-51876334	GM12878	blood:	n/a	chr19:51876044-51876053
20	BATF	chr19:51876017-51876432	GM12878	blood:	n/a	n/a
21	ELF1	chr19:51874941-51876693	GM12878	blood:	n/a	n/a
22	FOXM1	chr19:51875765-51876591	GM12878	blood:	n/a	n/a
23	WRNIP1	chr19:51875825-51876380	GM12878	blood:	n/a	n/a
24	EBF1	chr19:51875853-51876509	GM12878	blood:	n/a	chr19:51876044-51876053
25	STAT3	chr19:51875920-51876413	GM12878	blood:	n/a	chr19:51876192-51876201 chr19:51876193-51876202 chr19:51876353-51876360
26	TBL1XR1	chr19:51875612-51876387	GM12878	blood:	n/a	n/a
27	SPI1	chr19:51876246-51876424	GM12878	blood:	n/a	chr19:51876351-51876358
28	ELK1	chr19:51875975-51876303	GM12878	blood:	n/a	n/a
29	RUNX3	chr19:51875274-51876634	GM12878	blood:	n/a	chr19:51876107-51876124
30	RELA	chr19:51875967-51876424	GM15510	blood:	n/a	n/a
31	RCOR1	chr19:51875806-51876677	GM12878	blood:	n/a	n/a
32	POU2F2	chr19:51875774-51876449	GM12878	blood:	n/a	chr19:51876034-51876046
33	RELA	chr19:51875936-51876472	GM19193	blood:	n/a	n/a
34	POLR2A	chr19:51875873-51876505	GM15510	blood:	n/a	n/a
35	TBP	chr19:51875846-51876425	GM12878	blood:	n/a	n/a
36	RFX5	chr19:51876071-51876297	GM12878	blood:	n/a	chr19:51876243-51876252
37	TCF3	chr19:51876132-51876388	GM12878	blood:	n/a	chr19:51876291-51876304
38	ELF1	chr19:51875868-51876377	K562	blood:	n/a	n/a
39	PML	chr19:51875654-51876685	GM12878	blood:	n/a	n/a
40	SPI1	chr19:51875884-51876637	GM12878	blood:	n/a	chr19:51876351-51876358 chr19:51876078-51876091
41	EP300	chr19:51875872-51876438	GM12878	blood:	n/a	chr19:51876308-51876315
42	MAZ	chr19:51876020-51876274	K562	blood:	n/a	n/a
43	SPI1	chr19:51876157-51876507	GM12891	blood:	n/a	chr19:51876351-51876358
44	STAT5A	chr19:51875839-51876384	GM12878	blood:	n/a	chr19:51876192-51876201 chr19:51876193-51876202 chr19:51876353-51876360
45	NFIC	chr19:51875931-51876523	GM12878	blood:	n/a	n/a
46	PBX3	chr19:51875946-51876306	GM12878	blood:	n/a	chr19:51876243-51876252
47	MAZ	chr19:51875789-51876403	GM12878	blood:	n/a	chr19:51875952-51875961
48	SRF	chr19:51876080-51876344	GM12878	blood:	n/a	n/a
49	POLR2A	chr19:51875623-51876555	GM12891	blood:	n/a	n/a
50	SPI1	chr19:51875804-51876575	GM12891	blood:	n/a	chr19:51876351-51876358 chr19:51876078-51876091

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51876015..51877655-chr19:51882172..51883777,2	MCF-7	breast:

Variant related genes	Relation type
CLDND2	TF binding region
NKG7	TF binding region
ENSG00000269403	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10418894	1.00[ASN][1000 genomes]
rs10420738	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8109405	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS 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
3	esv1813225	chr19:51821612-51888813	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv912294	chr19:51844978-51878841	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51870000-51876800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
2	chr19:51872000-51897000	Weak transcription	Right Atrium	heart
3	chr19:51873600-51876800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr19:51873600-51877000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr19:51873600-51880000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:51874000-51877000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:51874200-51877000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr19:51874400-51876600	Enhancers	Primary B cells from cord blood	blood
9	chr19:51874400-51876600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:51874400-51876600	Enhancers	Thymus	Thymus
11	chr19:51874600-51876600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr19:51874600-51876600	Flanking Active TSS	Dnd41	blood
13	chr19:51874600-51877000	Enhancers	Spleen	Spleen
14	chr19:51874800-51876400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr19:51875000-51876400	Flanking Active TSS	GM12878-XiMat	blood
16	chr19:51875000-51877000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:51875000-51877000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr19:51875200-51876400	Bivalent Enhancer	HepG2	liver
19	chr19:51875200-51876800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr19:51875400-51876400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:51875600-51876800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr19:51875800-51876600	Enhancers	K562	blood
23	chr19:51875800-51876800	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr19:51875800-51877600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr19:51875800-51878800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr19:51875800-51881200	Enhancers	Fetal Thymus	thymus
27	chr19:51876000-51876400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr19:51876000-51876400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr19:51876000-51876400	Enhancers	Fetal Muscle Leg	muscle
30	chr19:51876000-51877000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr19:51876000-51877800	Enhancers	Primary T cells from cord blood	blood
32	chr19:51876200-51878600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr19:51876200-51878800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr19:51876200-51879200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr19:51876200-51879600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr19:51876200-51880400	Enhancers	Primary hematopoietic stem cells	blood

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