Variant report

Variant	rs7367
Chromosome Location	chr19:41129842-41129843
allele	C/T
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	EP300	chr19:41129438-41129986	A549	lung:	n/a	n/a
2	TEAD4	chr19:41129524-41130277	K562	blood:	n/a	chr19:41129703-41129712
3	POLR2A	chr19:41129645-41130294	K562	blood:	n/a	n/a
4	POLR2A	chr19:41129442-41130130	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr19:41129591-41130142	H1-hESC	embryonic stem cell:	n/a	n/a
6	YY1	chr19:41129442-41129994	H1-hESC	embryonic stem cell:	n/a	n/a
7	CCNT2	chr19:41129508-41130219	K562	blood:	n/a	chr19:41129654-41129663
8	NR2F2	chr19:41129210-41130283	K562	blood:	n/a	n/a
9	CTCF	chr19:41129794-41130140	K562	blood:	n/a	n/a
10	PML	chr19:41129639-41130267	K562	blood:	n/a	n/a
11	POLR2A	chr19:41129345-41130176	Gliobla	brain:	n/a	n/a
12	MAX	chr19:41129492-41130159	H1-hESC	embryonic stem cell:	n/a	chr19:41129995-41130004
13	MAX	chr19:41129810-41130159	K562	blood:	n/a	chr19:41129995-41130004
14	MAX	chr19:41129335-41130257	K562	blood:	n/a	chr19:41129995-41130004
15	TEAD4	chr19:41129460-41129980	H1-hESC	embryonic stem cell:	n/a	chr19:41129703-41129712
16	TCF12	chr19:41129345-41130273	ECC-1	luminal epithelium:	n/a	chr19:41129692-41129702
17	MXI1	chr19:41129563-41130113	H1-hESC	embryonic stem cell:	n/a	n/a
18	MXI1	chr19:41129821-41130217	K562	blood:	n/a	n/a
19	EGR1	chr19:41129605-41130262	HCT-116	colon:	n/a	chr19:41129992-41130007 chr19:41129994-41130003 chr19:41129994-41130005 chr19:41129994-41130004 chr19:41129992-41130006 chr19:41129993-41130006 chr19:41129993-41130006 chr19:41129993-41130006 chr19:41129994-41130004 chr19:41129994-41130005 chr19:41129993-41130006
20	ZC3H11A	chr19:41129767-41129963	K562	blood:	n/a	n/a
21	MAX	chr19:41129572-41130254	ECC-1	luminal epithelium:	n/a	chr19:41129995-41130004
22	POLR2A	chr19:41129569-41130252	K562	blood:	n/a	n/a
23	EGR1	chr19:41129735-41130263	K562	blood:	n/a	chr19:41129992-41130007 chr19:41129994-41130003 chr19:41129994-41130005 chr19:41129994-41130004 chr19:41129992-41130006 chr19:41129993-41130006 chr19:41129993-41130006 chr19:41129993-41130006 chr19:41129994-41130004 chr19:41129994-41130005 chr19:41129993-41130006
24	POLR2A	chr19:41129653-41130339	K562	blood:	n/a	n/a
25	MAZ	chr19:41129495-41130224	K562	blood:	n/a	chr19:41129995-41130004
26	BHLHE40	chr19:41129746-41130169	K562	blood:	n/a	n/a
27	HDAC2	chr19:41129719-41130065	K562	blood:	n/a	n/a
28	FOXA1	chr19:41129688-41130086	HepG2	liver:	n/a	n/a
29	KAP1	chr19:41129460-41130150	HEK293	kidney:	n/a	n/a
30	TBL1XR1	chr19:41129670-41129927	K562	blood:	n/a	n/a
31	ATF2	chr19:41129587-41129955	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr19:41129681-41130251	K562	blood:	n/a	n/a
33	ZNF384	chr19:41129680-41130128	K562	blood:	n/a	n/a
34	FOXA1	chr19:41129758-41130027	ECC-1	luminal epithelium:	n/a	n/a
35	TEAD4	chr19:41129425-41130120	ECC-1	luminal epithelium:	n/a	chr19:41129703-41129712
36	TAF1	chr19:41129527-41130122	H1-hESC	embryonic stem cell:	n/a	n/a
37	IRF1	chr19:41129765-41130125	K562	blood:	n/a	chr19:41130064-41130078 chr19:41130080-41130094 chr19:41129776-41129785
38	RAD21	chr19:41129811-41130141	K562	blood:	n/a	n/a
39	YY1	chr19:41129768-41129997	K562	blood:	n/a	n/a
40	GTF2F1	chr19:41129784-41130130	K562	blood:	n/a	n/a
41	HCFC1	chr19:41129799-41130143	K562	blood:	n/a	n/a
42	SP4	chr19:41129694-41130260	H1-hESC	embryonic stem cell:	n/a	chr19:41129791-41129802 chr19:41130080-41130096 chr19:41130104-41130120 chr19:41129988-41130004
43	TBL1XR1	chr19:41129729-41130135	K562	blood:	n/a	n/a
44	MYC	chr19:41129751-41130205	K562	blood:	n/a	chr19:41129995-41130004
45	FOXA2	chr19:41129799-41129985	HepG2	liver:	n/a	n/a
46	ATF1	chr19:41129707-41130111	K562	blood:	n/a	n/a
47	TCF12	chr19:41129471-41130217	ECC-1	luminal epithelium:	n/a	chr19:41129692-41129702
48	EGR1	chr19:41129627-41130363	HCT-116	colon:	n/a	chr19:41129992-41130007 chr19:41129994-41130003 chr19:41129994-41130005 chr19:41129994-41130004 chr19:41129992-41130006 chr19:41129993-41130006 chr19:41129993-41130006 chr19:41129993-41130006 chr19:41129994-41130004 chr19:41129994-41130005 chr19:41129993-41130006
49	MYC	chr19:41129736-41130213	K562	blood:	n/a	chr19:41129995-41130004
50	POLR2A	chr19:41129711-41130302	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41107019..41113650-chr19:41128672..41134191,9	K562	blood:
2	chr19:41119884..41122816-chr19:41127370..41130174,2	MCF-7	breast:
3	chr19:41122762..41124472-chr19:41128574..41130141,2	K562	blood:
4	chr19:41108422..41113817-chr19:41128876..41134100,7	MCF-7	breast:
5	chr19:41117621..41122754-chr19:41128365..41133445,15	K562	blood:

Variant related genes	Relation type
LTBP4	TF binding region
ENSG00000090006	Chromatin interaction
ENSG00000266164	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10403467	0.81[EUR][1000 genomes]
rs10403963	0.81[EUR][1000 genomes]
rs1051303	0.80[EUR][1000 genomes]
rs10880	0.89[ASN][1000 genomes]
rs1131620	0.81[EUR][1000 genomes]
rs11667706	0.81[EUR][1000 genomes]
rs11670451	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11671971	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12610819	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2162857	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2278242	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28580028	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3786529	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56183542	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8107014	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv911714	chr19:41006426-41165252	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv911715	chr19:41014922-41141434	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv1057634	chr19:41019512-41174259	Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv911717	chr19:41023511-41141434	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv911719	chr19:41033109-41147087	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv911720	chr19:41033109-41156940	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv911722	chr19:41040334-41176403	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv911723	chr19:41075990-41195279	Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv869561	chr19:41077513-41139834	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
11	nsv1064699	chr19:41086506-41174259	Genic enhancers Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
12	nsv911724	chr19:41089505-41165252	Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv911726	chr19:41090190-41141434	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv911727	chr19:41111069-41200511	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
15	nsv911728	chr19:41111069-41211056	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
16	nsv870022	chr19:41113071-41178982	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	27 gene(s)	inside rSNPs	diseases
17	esv1800615	chr19:41127465-41270055	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7367	SHKBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41106000-41136800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:41116600-41137000	Weak transcription	Psoas Muscle	Psoas
3	chr19:41117000-41140200	Weak transcription	Brain Angular Gyrus	brain
4	chr19:41120400-41139800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr19:41120600-41133000	Weak transcription	Fetal Brain Male	brain
6	chr19:41120800-41139200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr19:41120800-41140200	Weak transcription	Brain Anterior Caudate	brain
8	chr19:41121200-41136400	Strong transcription	Fetal Muscle Trunk	muscle
9	chr19:41121200-41137400	Strong transcription	Fetal Muscle Leg	muscle
10	chr19:41121400-41132600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:41121400-41140200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr19:41121800-41136800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:41122000-41130000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr19:41122000-41136800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:41123000-41136800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr19:41123200-41133400	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr19:41123400-41140400	Weak transcription	Liver	Liver
18	chr19:41123800-41132600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr19:41124000-41133400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:41124200-41133400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr19:41124200-41136600	Weak transcription	HSMMtube	muscle
22	chr19:41124400-41133000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr19:41124400-41136000	Strong transcription	Ovary	ovary
24	chr19:41124800-41130200	Strong transcription	Osteobl	bone
25	chr19:41124800-41134000	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr19:41124800-41136000	Strong transcription	Adipose Nuclei	Adipose
27	chr19:41124800-41136200	Strong transcription	Duodenum Mucosa	Duodenum
28	chr19:41125000-41132800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr19:41125000-41135800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr19:41125200-41130000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr19:41125200-41130200	Strong transcription	Thymus	Thymus
32	chr19:41125200-41130400	Strong transcription	Primary T cells from cord blood	blood
33	chr19:41125200-41137200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:41125800-41136600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:41126000-41130400	Weak transcription	Brain Hippocampus Middle	brain
36	chr19:41126000-41131400	Weak transcription	GM12878-XiMat	blood
37	chr19:41126000-41131600	Weak transcription	Stomach Mucosa	stomach
38	chr19:41126000-41133400	Weak transcription	Fetal Thymus	thymus
39	chr19:41126000-41139000	Weak transcription	NHDF-Ad	bronchial
40	chr19:41126000-41139800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:41126000-41140000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr19:41126200-41140200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr19:41127000-41130000	Strong transcription	Brain Germinal Matrix	brain
44	chr19:41127000-41130000	Strong transcription	Spleen	Spleen
45	chr19:41127000-41130200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr19:41127000-41130400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr19:41127000-41130400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr19:41127000-41130400	Strong transcription	Aorta	Aorta
49	chr19:41127000-41137400	Strong transcription	Fetal Lung	lung
50	chr19:41127200-41130400	Strong transcription	Primary B cells from peripheral blood	blood

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