Variant report

Variant	rs7256648
Chromosome Location	chr19:19195343-19195344
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19174651..19178672-chr19:19193782..19196687,4	K562	blood:

Variant related genes	Relation type
ENSG00000181035	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1007483	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10221504	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10403222	0.91[ASN][1000 genomes]
rs10404627	0.98[ASN][1000 genomes]
rs10405189	0.94[ASN][1000 genomes]
rs10405635	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10409164	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10410451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10410568	0.98[ASN][1000 genomes]
rs10414676	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10416783	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10417974	0.93[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10421019	0.86[CEU][hapmap]
rs10422335	0.85[ASN][1000 genomes]
rs10422906	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10423742	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10423815	0.94[ASN][1000 genomes]
rs1079543	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs10854005	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11085249	0.81[CEU][hapmap]
rs1124921	0.94[ASN][1000 genomes]
rs11666120	0.92[ASN][1000 genomes]
rs11666340	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11666627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11670204	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11670239	0.97[ASN][1000 genomes]
rs11729	0.86[CEU][hapmap]
rs11878368	0.91[ASN][1000 genomes]
rs12016	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12975676	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12975754	0.88[ASN][1000 genomes]
rs12976302	0.95[ASN][1000 genomes]
rs12978822	0.83[ASN][1000 genomes]
rs12979565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12979841	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12985799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1859267	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2012318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2107263	0.91[ASN][1000 genomes]
rs2158320	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2240094	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2240095	0.91[ASN][1000 genomes]
rs2269806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2285851	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2313736	0.91[ASN][1000 genomes]
rs2872394	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3180770	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4808179	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808184	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4808895	0.88[CEU][hapmap]
rs4808902	0.91[ASN][1000 genomes]
rs4808904	0.94[ASN][1000 genomes]
rs4808905	0.94[ASN][1000 genomes]
rs4808906	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4808907	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4808911	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808913	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4808916	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4808923	0.88[CEU][hapmap]
rs6511010	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6511014	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6511015	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6511017	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6511018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6511021	0.85[CHB][hapmap]
rs7248399	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7248651	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7248771	0.98[ASN][1000 genomes]
rs7250131	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7253244	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7255937	0.98[ASN][1000 genomes]
rs7257635	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7258637	0.94[ASN][1000 genomes]
rs7259510	0.94[ASN][1000 genomes]
rs7259609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs756792	0.92[CEU][hapmap]
rs757220	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs757221	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8101529	0.90[ASN][1000 genomes]
rs8103431	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8104799	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8106146	0.89[CHB][hapmap];0.94[ASN][1000 genomes]
rs8107710	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8109654	0.94[ASN][1000 genomes]
rs8110629	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8111634	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8111635	0.91[ASN][1000 genomes]
rs8112566	0.91[ASN][1000 genomes]
rs916898	0.94[ASN][1000 genomes]
rs929215	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9304959	0.94[ASN][1000 genomes]
rs9676917	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7256648	SFRS14	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19175400-19207800	Weak transcription	Aorta	Aorta
2	chr19:19176400-19215200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:19176400-19215800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr19:19176400-19215800	Weak transcription	NHLF	lung
5	chr19:19176600-19206800	Weak transcription	Fetal Brain Female	brain
6	chr19:19176600-19207200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:19176600-19208200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:19177000-19210000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:19177200-19204800	Weak transcription	Fetal Intestine Large	intestine
10	chr19:19177200-19215400	Weak transcription	Colonic Mucosa	Colon
11	chr19:19178400-19204800	Weak transcription	HepG2	liver
12	chr19:19178600-19198400	Weak transcription	Brain Substantia Nigra	brain
13	chr19:19180200-19216000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:19180400-19195800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr19:19180400-19207200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr19:19180400-19207800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr19:19180400-19208000	Weak transcription	Brain Angular Gyrus	brain
18	chr19:19180400-19208000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr19:19180400-19208200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr19:19180400-19216400	Weak transcription	Colon Smooth Muscle	Colon
21	chr19:19180400-19219800	Weak transcription	HSMMtube	muscle
22	chr19:19180600-19208200	Weak transcription	Fetal Lung	lung
23	chr19:19180600-19213600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr19:19180600-19245600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr19:19180600-19248400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr19:19185400-19208400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr19:19185400-19221200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr19:19185600-19198600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:19185600-19198600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:19185600-19207200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr19:19185600-19211400	Weak transcription	Pancreas	Pancrea
32	chr19:19186400-19206800	Weak transcription	Fetal Thymus	thymus
33	chr19:19186800-19207400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:19186800-19215200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr19:19187000-19205400	Weak transcription	Ovary	ovary
36	chr19:19187400-19207800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:19187800-19196200	Weak transcription	GM12878-XiMat	blood
38	chr19:19188400-19204800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr19:19188400-19209800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr19:19189400-19207200	Weak transcription	Brain Anterior Caudate	brain
41	chr19:19189800-19202800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr19:19190600-19195400	Strong transcription	Primary B cells from peripheral blood	blood
43	chr19:19191000-19196000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr19:19191400-19205200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr19:19192000-19196200	Strong transcription	Primary T cells from cord blood	blood
46	chr19:19192000-19197800	Strong transcription	Fetal Stomach	stomach
47	chr19:19192600-19196400	Strong transcription	Thymus	Thymus
48	chr19:19192800-19196800	Weak transcription	Liver	Liver
49	chr19:19192800-19207800	Weak transcription	Adipose Nuclei	Adipose
50	chr19:19193000-19196600	Weak transcription	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links