Variant report

Variant	rs7252471
Chromosome Location	chr19:40713412-40713413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40711863..40713971-chr19:41113020..41115671,2	K562	blood:
2	chr19:40695787..40698741-chr19:40713077..40714755,2	K562	blood:

Variant related genes	Relation type
ENSG00000090006	Chromatin interaction
ENSG00000130758	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1129156	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs12975651	0.81[EUR][1000 genomes]
rs2304184	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs2356229	0.82[EUR][1000 genomes]
rs4239504	0.86[CEU][hapmap]
rs4530264	0.83[EUR][1000 genomes]
rs4802070	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs7247201	0.82[EUR][1000 genomes]
rs7260249	0.81[EUR][1000 genomes]
rs8106744	0.82[EUR][1000 genomes]
rs9749056	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911698	chr19:40689580-40725304	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv911700	chr19:40695598-40725304	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv911701	chr19:40695598-40728417	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv911702	chr19:40697061-40731371	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv911703	chr19:40711333-40730279	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7252471	C19orf47	cis	multi-tissue	Pritchard

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40698400-40714600	Weak transcription	Small Intestine	intestine
2	chr19:40698400-40715400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:40698600-40721200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr19:40698800-40715600	Weak transcription	Liver	Liver
5	chr19:40698800-40719600	Weak transcription	HSMM	muscle
6	chr19:40698800-40720200	Weak transcription	NHEK	skin
7	chr19:40698800-40721400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:40698800-40722000	Weak transcription	Fetal Thymus	thymus
9	chr19:40699000-40716600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:40699000-40716600	Weak transcription	A549	lung
11	chr19:40699000-40720400	Weak transcription	Psoas Muscle	Psoas
12	chr19:40699000-40722200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr19:40699000-40722200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr19:40699000-40722400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:40699200-40716800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr19:40699200-40716800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr19:40699200-40720200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr19:40699200-40720400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr19:40699200-40721200	Weak transcription	NH-A	brain
20	chr19:40699200-40721400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr19:40699400-40716400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr19:40699400-40721200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr19:40699600-40722000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:40699600-40722200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr19:40699800-40720000	Weak transcription	NHDF-Ad	bronchial
26	chr19:40699800-40720600	Weak transcription	HepG2	liver
27	chr19:40706800-40716800	Weak transcription	GM12878-XiMat	blood
28	chr19:40707000-40716600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:40707000-40722400	Weak transcription	HMEC	breast
30	chr19:40709000-40718200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr19:40709400-40713600	Strong transcription	Osteobl	bone
32	chr19:40709600-40716600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr19:40709600-40716600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr19:40709800-40714600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr19:40709800-40715000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr19:40709800-40722000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr19:40710600-40721200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr19:40710600-40722200	Weak transcription	Primary B cells from cord blood	blood
39	chr19:40710800-40716600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr19:40711200-40721800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:40711200-40731800	Weak transcription	Right Atrium	heart
42	chr19:40711400-40715000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr19:40711400-40716600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr19:40711400-40718800	Weak transcription	Brain Substantia Nigra	brain
45	chr19:40711600-40715600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr19:40711600-40719800	Weak transcription	Colonic Mucosa	Colon
47	chr19:40711600-40720400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr19:40711600-40721000	Weak transcription	HSMMtube	muscle
49	chr19:40711600-40721800	Weak transcription	Fetal Brain Male	brain
50	chr19:40711600-40722600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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