Variant report

Variant	rs7251764
Chromosome Location	chr19:18648860-18648861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:18648327-18648864	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:18648761-18649146	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr19:18648176-18648887	HL-60	blood:	n/a	n/a
4	POLR2A	chr19:18648532-18648903	HCT-116	colon:	n/a	n/a
5	POLR2A	chr19:18648308-18649171	HepG2	liver:	n/a	n/a
6	POLR2A	chr19:18648232-18648991	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:18648148-18649448	K562	blood:	n/a	n/a
8	POLR2A	chr19:18648047-18649098	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr19:18648079-18649639	K562	blood:	n/a	n/a
10	POLR2A	chr19:18647969-18649253	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:18648702-18648873	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr19:18647539-18649530	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18629876..18632922-chr19:18647804..18650314,4	MCF-7	breast:
2	chr19:18631281..18633201-chr19:18647451..18649167,2	K562	blood:
3	chr19:18643276..18646755-chr19:18646873..18650377,4	K562	blood:

No data

Variant related genes	Relation type
FKBP8	TF binding region
ENSG00000269191	Chromatin interaction
ENSG00000105656	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11574811	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28485917	1.00[EUR][1000 genomes]
rs28644183	1.00[EUR][1000 genomes]
rs28750484	1.00[EUR][1000 genomes]
rs41292105	1.00[EUR][1000 genomes]
rs59449632	1.00[EUR][1000 genomes]
rs61758313	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6512273	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246524	1.00[EUR][1000 genomes]
rs7248433	0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7249855	1.00[MEX][hapmap]
rs7251065	1.00[EUR][1000 genomes]
rs7257862	1.00[EUR][1000 genomes]
rs73527474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73529531	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8103468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8104320	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8104439	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8108720	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' 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	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
5	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
6	nsv1061733	chr19:18574940-18679155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	nsv1055794	chr19:18611545-18676933	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv911281	chr19:18613917-18758255	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
10	nsv911283	chr19:18626732-18689830	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	nsv833776	chr19:18638028-18782264	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
12	nsv911284	chr19:18643036-18684216	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
13	nsv911285	chr19:18646932-18667472	Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18632800-18652200	Weak transcription	Fetal Heart	heart
2	chr19:18632800-18652800	Weak transcription	Stomach Mucosa	stomach
3	chr19:18632800-18654600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:18633000-18653400	Weak transcription	Psoas Muscle	Psoas
5	chr19:18633200-18653200	Weak transcription	Right Atrium	heart
6	chr19:18633800-18652400	Weak transcription	Fetal Brain Male	brain
7	chr19:18633800-18652800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr19:18633800-18653400	Weak transcription	Fetal Kidney	kidney
9	chr19:18634000-18651800	Weak transcription	Hela-S3	cervix
10	chr19:18634000-18652200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr19:18638600-18650800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr19:18640400-18652000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr19:18640400-18652200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:18641800-18652400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr19:18641800-18652800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr19:18641800-18653000	Strong transcription	Fetal Stomach	stomach
17	chr19:18642000-18652000	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr19:18642000-18652400	Strong transcription	Fetal Muscle Leg	muscle
19	chr19:18642000-18652600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:18642000-18652600	Strong transcription	Brain Hippocampus Middle	brain
21	chr19:18642000-18652800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:18642000-18652800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:18642000-18652800	Strong transcription	Fetal Intestine Small	intestine
24	chr19:18642200-18649000	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr19:18642200-18650000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:18642200-18651800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr19:18642200-18652000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:18642200-18652200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:18642200-18652200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr19:18642200-18652200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr19:18642200-18652400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr19:18642200-18652400	Strong transcription	Gastric	stomach
33	chr19:18642200-18652400	Strong transcription	Thymus	Thymus
34	chr19:18642200-18652400	Strong transcription	NHLF	lung
35	chr19:18642200-18652600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr19:18642200-18652600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr19:18642200-18652600	Strong transcription	Primary T cells from cord blood	blood
38	chr19:18642200-18652600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:18642200-18652600	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr19:18642200-18652600	Strong transcription	Esophagus	oesophagus
41	chr19:18642200-18652600	Strong transcription	Fetal Intestine Large	intestine
42	chr19:18642200-18652600	Strong transcription	Ovary	ovary
43	chr19:18642200-18652800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr19:18642200-18652800	Strong transcription	Fetal Thymus	thymus
45	chr19:18642200-18653000	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr19:18642400-18650600	Weak transcription	NH-A	brain
47	chr19:18642400-18652200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr19:18642800-18651800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr19:18644000-18652200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr19:18644200-18650200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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