Variant report

Variant	rs1871042
Chromosome Location	chr11:67353844-67353845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67353656..67356234-chr11:67410446..67412031,2	K562	blood:
2	chr11:67353657..67355705-chr11:67384092..67385924,2	K562	blood:
3	chr11:67269844..67272585-chr11:67351352..67354034,3	K562	blood:
4	chr11:67347575..67355744-chr11:67372717..67376912,13	K562	blood:
5	chr11:67347249..67355748-chr11:67372717..67377095,16	K562	blood:
6	chr11:67269985..67274388-chr11:67349964..67354078,4	K562	blood:
7	chr11:67351259..67353873-chr11:67373020..67375265,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167792	Chromatin interaction
ENSG00000255119	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000184224	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1079719	0.83[ASN][1000 genomes]
rs10896186	0.81[CEU][hapmap]
rs11601325	1.00[JPT][hapmap]
rs11603735	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11603991	0.92[CEU][hapmap]
rs12421329	0.92[CEU][hapmap];0.95[GIH][hapmap];0.86[TSI][hapmap]
rs12790798	0.92[CEU][hapmap];0.95[GIH][hapmap];0.84[TSI][hapmap]
rs12793832	0.92[CEU][hapmap];0.95[GIH][hapmap];0.86[TSI][hapmap]
rs1531514	0.81[CEU][hapmap]
rs1695	1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs17593068	0.85[ASN][1000 genomes]
rs1871034	0.86[JPT][hapmap]
rs1871043	0.92[CEU][hapmap]
rs2276120	0.86[JPT][hapmap]
rs2370141	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2370142	0.85[ASN][1000 genomes]
rs2370143	0.88[ASN][1000 genomes]
rs2514022	0.87[CEU][hapmap];0.80[GIH][hapmap]
rs3765088	0.81[CEU][hapmap]
rs4024254	0.92[CEU][hapmap];0.95[GIH][hapmap];0.84[TSI][hapmap]
rs4084113	1.00[JPT][hapmap]
rs4148959	0.84[CEU][hapmap]
rs4320958	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs4465371	1.00[JPT][hapmap]
rs4891	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4930210	0.85[CEU][hapmap]
rs4930430	0.86[JPT][hapmap]
rs4930431	0.86[JPT][hapmap]
rs596603	0.81[CEU][hapmap]
rs6591245	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs6591249	0.85[ASN][1000 genomes]
rs6591251	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs6591252	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs6591254	0.85[ASN][1000 genomes]
rs6591255	0.85[ASN][1000 genomes]
rs6591256	1.00[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.85[ASN][1000 genomes]
rs6591258	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103632	0.92[CEU][hapmap]
rs7103713	0.83[ASN][1000 genomes]
rs7106423	1.00[CHB][hapmap];0.89[CHD][hapmap];0.86[JPT][hapmap]
rs7108149	0.89[EUR][1000 genomes]
rs7108426	0.85[ASN][1000 genomes]
rs7114510	1.00[JPT][hapmap]
rs749174	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs762803	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs7927657	0.85[ASN][1000 genomes]
rs7940813	0.85[ASN][1000 genomes]
rs7941395	1.00[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.85[ASN][1000 genomes]
rs7941648	1.00[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.85[ASN][1000 genomes]
rs7945035	0.85[ASN][1000 genomes]
rs7945927	0.85[ASN][1000 genomes]
rs7948073	0.88[CEU][hapmap]
rs7948911	0.85[ASN][1000 genomes]
rs7949394	0.81[ASN][1000 genomes]
rs7949587	0.85[ASN][1000 genomes]
rs7952081	0.84[CHB][hapmap]
rs7952248	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs917570	1.00[JPT][hapmap]
rs947895	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
4	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription 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 miRNA target site	176 gene(s)	inside rSNPs	diseases
5	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
6	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
7	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
8	nsv1041988	chr11:67319916-67749246	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	nsv897814	chr11:67339949-67460529	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv1050463	chr11:67343421-67717338	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
11	nsv1038189	chr11:67345320-67749246	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
12	nsv1047236	chr11:67345320-67764068	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
13	nsv555268	chr11:67346743-67752972	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers 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 miRNA target site	81 gene(s)	inside rSNPs	diseases
14	nsv1036101	chr11:67346813-67828351	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
15	nsv541079	chr11:67346813-67828351	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
16	nsv897815	chr11:67347595-67408791	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer 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	47 gene(s)	inside rSNPs	diseases
17	nsv1053811	chr11:67349444-67749246	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
18	esv1817852	chr11:67349899-67626567	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
19	nsv468606	chr11:67352689-67816936	Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
20	nsv555269	chr11:67352689-67816936	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
21	nsv897816	chr11:67353579-67460529	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs1871042	NDUFV1	cis	parietal	SCAN
rs1871042	GSTP1	cis	parietal	SCAN
rs1871042	DOC2GP	cis	Artery Tibial	GTEx
rs1871042	RPS6KB2	cis	lymphoblastoid	seeQTL
rs1871042	RP11-655M14.12	cis	Muscle Skeletal	GTEx
rs1871042	DOC2GP	cis	Skin Sun Exposed Lower leg	GTEx
rs1871042	SLC29A2	cis	parietal	SCAN
rs1871042	NUDT8	cis	Heart Left Ventricle	GTEx
rs1871042	ATG2A	cis	parietal	SCAN
rs1871042	GSTP1	cis	cerebellum	SCAN
rs1871042	RTN3	cis	parietal	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67351800-67354000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:67351800-67354400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:67351800-67358600	Weak transcription	Primary T cells from cord blood	blood
4	chr11:67352000-67354000	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:67352000-67354000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
6	chr11:67352000-67354000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:67352000-67354000	Transcr. at gene 5' and 3'	A549	lung
8	chr11:67352000-67354200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:67352200-67354200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
10	chr11:67352200-67354400	Weak transcription	Psoas Muscle	Psoas
11	chr11:67352200-67354600	Transcr. at gene 5' and 3'	K562	blood
12	chr11:67352200-67354800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:67352200-67354800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
14	chr11:67352200-67355600	Enhancers	Primary B cells from cord blood	blood
15	chr11:67352400-67354000	Weak transcription	Fetal Kidney	kidney
16	chr11:67352400-67354000	Genic enhancers	Pancreas	Pancrea
17	chr11:67352400-67354200	Genic enhancers	Fetal Muscle Trunk	muscle
18	chr11:67352400-67354200	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr11:67352400-67354400	Genic enhancers	Primary monocytes fromperipheralblood	blood
20	chr11:67352400-67354600	Genic enhancers	Fetal Muscle Leg	muscle
21	chr11:67352400-67356200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr11:67352600-67354000	Genic enhancers	Duodenum Smooth Muscle	Duodenum
23	chr11:67352600-67354200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:67352600-67354200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
25	chr11:67352600-67354400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
26	chr11:67352600-67354600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:67352600-67354800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:67352600-67358400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:67352600-67359800	Weak transcription	Right Atrium	heart
30	chr11:67352600-67360200	Weak transcription	Brain Angular Gyrus	brain
31	chr11:67352800-67354000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:67352800-67354000	Genic enhancers	Brain Germinal Matrix	brain
33	chr11:67352800-67354000	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:67352800-67354600	Strong transcription	Colonic Mucosa	Colon
35	chr11:67352800-67354600	Strong transcription	Right Ventricle	heart
36	chr11:67352800-67354600	Genic enhancers	Spleen	Spleen
37	chr11:67352800-67355800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:67352800-67355800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:67352800-67357000	Weak transcription	NHDF-Ad	bronchial
40	chr11:67353000-67354000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:67353000-67354000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:67353000-67354400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:67353000-67354400	Weak transcription	HSMMtube	muscle
44	chr11:67353000-67354600	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr11:67353000-67354600	Genic enhancers	Fetal Stomach	stomach
46	chr11:67353000-67355800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
47	chr11:67353000-67357400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:67353200-67354000	Genic enhancers	H1 Cell Line	embryonic stem cell
49	chr11:67353200-67354200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:67353200-67354200	Strong transcription	Primary neutrophils fromperipheralblood	blood

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