Variant report

Variant	rs11848796
Chromosome Location	chr14:103978686-103978687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:103969311..103972021-chr14:103977810..103980718,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10151483	0.81[ASN][1000 genomes]
rs10162425	0.87[ASN][1000 genomes]
rs1107070	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11160751	0.86[ASN][1000 genomes]
rs1116095	0.81[EUR][1000 genomes]
rs1138400	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11620897	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11627446	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12432803	0.81[EUR][1000 genomes]
rs12435516	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12436729	0.81[EUR][1000 genomes]
rs12588272	0.81[EUR][1000 genomes]
rs12878548	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12894652	0.81[EUR][1000 genomes]
rs2023395	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2071407	0.95[ASN][1000 genomes]
rs2071408	0.95[ASN][1000 genomes]
rs2273701	0.81[EUR][1000 genomes]
rs2273702	0.85[ASN][1000 genomes]
rs2403174	0.81[EUR][1000 genomes]
rs2403192	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2756118	0.86[ASN][1000 genomes]
rs2756122	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2756128	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2756132	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2756135	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2765042	0.86[ASN][1000 genomes]
rs2765046	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2765049	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2765051	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34831235	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35374941	0.82[ASN][1000 genomes]
rs3783399	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4143998	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4900580	0.83[EUR][1000 genomes]
rs4906324	0.81[EUR][1000 genomes]
rs4906329	0.82[EUR][1000 genomes]
rs55658071	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55742283	0.82[EUR][1000 genomes]
rs57344120	0.82[EUR][1000 genomes]
rs7147664	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7148614	0.85[ASN][1000 genomes]
rs754287	0.85[ASN][1000 genomes]
rs8010247	0.81[EUR][1000 genomes]
rs8014013	0.82[EUR][1000 genomes]
rs8014800	0.82[EUR][1000 genomes]
rs9671414	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
3	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	esv1835815	chr14:103942991-103989757	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
5	nsv1044967	chr14:103954727-104007051	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	esv1807091	chr14:103956182-104020454	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv1835824	chr14:103956182-104020454	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	esv1818859	chr14:103967299-103989757	Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
11	esv1833254	chr14:103967299-103989757	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
12	esv1835374	chr14:103967299-103989757	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
13	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
14	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
15	esv1834605	chr14:103969909-104003091	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11848796	BAG5	Cis_1M	lymphoblastoid	RTeQTL
rs11848796	MARK3	cis	brain	BrainEAC

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103927800-103979800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr14:103947600-103980000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr14:103950400-103978800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:103950600-103979000	Strong transcription	Fetal Intestine Small	intestine
5	chr14:103953800-103978800	Strong transcription	Duodenum Mucosa	Duodenum
6	chr14:103958800-103980400	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr14:103962600-103979000	Weak transcription	Right Atrium	heart
8	chr14:103967000-103978800	Strong transcription	Fetal Muscle Leg	muscle
9	chr14:103967000-103979000	Strong transcription	Fetal Stomach	stomach
10	chr14:103967000-103980000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:103967000-103980600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:103967000-103981400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:103967600-103979000	Strong transcription	Fetal Muscle Trunk	muscle
14	chr14:103967800-103978800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:103967800-103979400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:103968800-103979000	Weak transcription	Psoas Muscle	Psoas
17	chr14:103970000-103978800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:103970400-103984600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr14:103970600-103984200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:103971000-103984400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr14:103971600-103987000	Weak transcription	Small Intestine	intestine
22	chr14:103971800-103978800	Weak transcription	Stomach Mucosa	stomach
23	chr14:103971800-103985200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr14:103971800-103985800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:103972000-103983400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:103972000-103984400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr14:103972000-103985200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:103972000-103987000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr14:103972200-103978800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr14:103972200-103979400	Weak transcription	Fetal Kidney	kidney
31	chr14:103972200-103985000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr14:103972600-103978800	Weak transcription	Brain Angular Gyrus	brain
33	chr14:103972800-103979000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr14:103972800-103979600	Weak transcription	Aorta	Aorta
35	chr14:103973600-103979600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr14:103973800-103979000	Strong transcription	Fetal Thymus	thymus
37	chr14:103974200-103979000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:103974200-103979200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:103974600-103985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr14:103975400-103985400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:103975600-103978800	Weak transcription	HSMM	muscle
42	chr14:103975800-103979200	Weak transcription	HepG2	liver
43	chr14:103975800-103981600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr14:103976400-103978800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr14:103976400-103979200	Strong transcription	A549	lung
46	chr14:103976400-103985200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr14:103976600-103985600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr14:103976800-103984200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr14:103977000-103978800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr14:103977000-103978800	Weak transcription	NH-A	brain

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