Variant report

Variant	rs1426378
Chromosome Location	chr11:4414873-4414874
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	chr11:4414486..4415099-chr9:33264253..33265106,2	HCT-116	colon:
2	chr11:4406758..4409112-chr11:4414514..4416251,2	K562	blood:

Variant related genes	Relation type
ENSG00000107262	Chromatin interaction
ENSG00000132109	Chromatin interaction
ENSG00000086065	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10767979	0.99[ASN][1000 genomes]
rs10836030	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10836031	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11032081	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032089	0.99[ASN][1000 genomes]
rs11032091	0.96[ASN][1000 genomes]
rs11032095	0.90[ASN][1000 genomes]
rs11032096	0.90[ASN][1000 genomes]
rs11032097	0.88[ASN][1000 genomes]
rs11032099	0.96[ASN][1000 genomes]
rs11032103	0.96[ASN][1000 genomes]
rs11032107	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11032108	0.95[ASN][1000 genomes]
rs11032109	0.95[ASN][1000 genomes]
rs11032119	0.98[ASN][1000 genomes]
rs11032151	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11032167	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11032168	0.84[EUR][1000 genomes]
rs11032169	0.82[EUR][1000 genomes]
rs11032174	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11032177	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11032182	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11032183	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11524842	0.96[ASN][1000 genomes]
rs11825233	0.99[ASN][1000 genomes]
rs11825252	0.99[ASN][1000 genomes]
rs11825803	0.96[ASN][1000 genomes]
rs11826968	0.92[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11827574	0.98[ASN][1000 genomes]
rs12295815	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12789338	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12789880	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12790052	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12793225	0.97[ASN][1000 genomes]
rs12800065	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12806300	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12806348	0.98[ASN][1000 genomes]
rs12806463	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12806701	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12808050	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1895913	0.99[ASN][1000 genomes]
rs2599587	0.94[ASN][1000 genomes]
rs2599595	0.95[ASN][1000 genomes]
rs2599596	0.98[ASN][1000 genomes]
rs28823401	0.96[ASN][1000 genomes]
rs34504032	0.84[EUR][1000 genomes]
rs34666651	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34884336	0.96[ASN][1000 genomes]
rs35225257	0.99[ASN][1000 genomes]
rs35226211	0.99[ASN][1000 genomes]
rs35307865	0.95[ASN][1000 genomes]
rs35533998	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35682743	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35747644	0.99[ASN][1000 genomes]
rs35831442	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4495886	0.80[EUR][1000 genomes]
rs4495887	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5030768	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71478797	0.82[EUR][1000 genomes]
rs926101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1041957	chr11:4213658-4470615	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv540913	chr11:4213658-4470615	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	esv1811486	chr11:4221216-4443039	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv1814887	chr11:4221216-4510188	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv427881	chr11:4221216-4510188	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv1037093	chr11:4256117-4418201	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1053120	chr11:4272450-4465637	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv832054	chr11:4290607-4481475	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv932141	chr11:4326065-4531854	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv469800	chr11:4333541-4474341	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv896907	chr11:4367196-4443472	Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv896908	chr11:4367196-4552102	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv896909	chr11:4377205-4443472	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv896910	chr11:4377205-4455955	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv553156	chr11:4386183-4414873	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv553158	chr11:4387760-4415079	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv1052376	chr11:4388448-4475303	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv540915	chr11:4388448-4475303	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv1043803	chr11:4388448-4837042	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
23	nsv540916	chr11:4388448-4837042	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
24	nsv553159	chr11:4389110-4599221	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
25	nsv1048224	chr11:4390227-4920324	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
26	nsv540917	chr11:4390227-4920324	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription 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	53 gene(s)	inside rSNPs	diseases
27	nsv1039510	chr11:4393573-4465634	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
28	nsv540918	chr11:4393573-4465634	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
29	nsv896911	chr11:4400801-4806872	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	41 gene(s)	inside rSNPs	diseases
30	nsv553160	chr11:4404192-4589567	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
31	nsv553161	chr11:4404192-4589780	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
32	nsv553162	chr11:4407725-4458967	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs1426378	RASSF7	cis	cerebellum	SCAN
rs1426378	ARFIP2	cis	cerebellum	SCAN
rs1426378	OR56A1	cis	cerebellum	SCAN
rs1426378	CDKN1C	cis	parietal	SCAN
rs1426378	SNORA52	cis	parietal	SCAN
rs1426378	TRIM21	cis	parietal	SCAN
rs1426378	TRIM21	cis	cerebellum	SCAN
rs1426378	OLFML1	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4413800-4415200	Active TSS	Fetal Intestine Small	intestine
2	chr11:4413800-4415200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr11:4413800-4415200	Active TSS	NHLF	lung
4	chr11:4413800-4415400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr11:4413800-4415400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:4413800-4415400	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr11:4413800-4415400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr11:4413800-4415400	Active TSS	Rectal Smooth Muscle	rectum
9	chr11:4414000-4415000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:4414000-4415000	Active TSS	Fetal Stomach	stomach
11	chr11:4414000-4415000	Active TSS	Fetal Thymus	thymus
12	chr11:4414000-4415200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:4414000-4415200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:4414000-4415200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr11:4414000-4415200	Active TSS	Brain Angular Gyrus	brain
16	chr11:4414000-4415200	Active TSS	Brain Hippocampus Middle	brain
17	chr11:4414000-4415200	Active TSS	Lung	lung
18	chr11:4414000-4415200	Active TSS	Psoas Muscle	Psoas
19	chr11:4414000-4415400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr11:4414000-4415400	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr11:4414000-4415400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:4414000-4415400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:4414000-4415400	Active TSS	Left Ventricle	heart
24	chr11:4414000-4415400	Active TSS	Right Atrium	heart
25	chr11:4414000-4415400	Active TSS	A549	lung
26	chr11:4414200-4415000	Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr11:4414200-4415000	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr11:4414200-4415000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:4414200-4415000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr11:4414200-4415000	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr11:4414200-4415000	Active TSS	Small Intestine	intestine
32	chr11:4414200-4415000	Active TSS	Stomach Mucosa	stomach
33	chr11:4414200-4415000	Active TSS	HSMM	muscle
34	chr11:4414200-4415000	Active TSS	NHEK	skin
35	chr11:4414200-4415200	Active TSS	H1 Cell Line	embryonic stem cell
36	chr11:4414200-4415200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:4414200-4415200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:4414200-4415200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:4414200-4415200	Active TSS	Muscle Satellite Cultured Cells	--
40	chr11:4414200-4415200	Active TSS	Fetal Intestine Large	intestine
41	chr11:4414200-4415200	Active TSS	Pancreas	Pancrea
42	chr11:4414200-4415200	Active TSS	Right Ventricle	heart
43	chr11:4414200-4415200	Active TSS	K562	blood
44	chr11:4414200-4415200	Active TSS	NHDF-Ad	bronchial
45	chr11:4414200-4415400	Active TSS	H9 Cell Line	embryonic stem cell
46	chr11:4414200-4415400	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr11:4414200-4415400	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr11:4414200-4415400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:4414200-4415400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:4414200-4415400	Active TSS	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links