Variant report

Variant	rs17034440
Chromosome Location	chr1:9987322-9987323
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	chr1:9987221..9989617-chr1:10002378..10005088,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTNNBIP1-1	chr1:9986451-9987467	NONHSAT000825

Variant related genes	Relation type
ENSG00000173614	Chromatin interaction
ENSG00000162441	Chromatin interaction
ENSG00000228150	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11121501	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11121509	0.95[AMR][1000 genomes]
rs12058979	0.80[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.87[TSI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12059092	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12060375	0.91[AMR][1000 genomes]
rs12062953	0.84[MEX][hapmap];0.87[TSI][hapmap];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12064822	0.80[LWK][hapmap];0.92[MEX][hapmap];0.85[MKK][hapmap];0.87[TSI][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12065908	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.87[TSI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12070725	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12071307	0.80[LWK][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12082318	1.00[MEX][hapmap];0.85[MKK][hapmap];0.95[AMR][1000 genomes]
rs12086598	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12088598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12094254	1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12097182	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.87[TSI][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289478	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297843	0.98[AMR][1000 genomes]
rs4845912	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4846104	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4846108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57702810	0.87[ASN][1000 genomes]
rs60132751	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61743470	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6663059	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6664208	0.91[AMR][1000 genomes]
rs7516611	0.92[MEX][hapmap];0.93[AMR][1000 genomes]
rs7535945	0.84[MEX][hapmap];0.87[TSI][hapmap];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1012301	chr1:9963962-10118393	Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv534853	chr1:9963962-10118393	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Active TSS Genic enhancers 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	38 gene(s)	inside rSNPs	diseases
8	nsv534854	chr1:9964726-10001012	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1001742	chr1:9971776-10116767	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers 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	36 gene(s)	inside rSNPs	diseases
10	nsv1005461	chr1:9972921-10038862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
11	nsv534855	chr1:9972921-10038862	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17034440	LZIC	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9971400-9987400	Weak transcription	Fetal Stomach	stomach
2	chr1:9971400-9993600	Weak transcription	Aorta	Aorta
3	chr1:9971400-10002000	Weak transcription	Small Intestine	intestine
4	chr1:9971600-9988600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:9971600-9991200	Weak transcription	NHEK	skin
6	chr1:9971800-9987600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:9971800-9989000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:9971800-9991800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:9972600-9988000	Weak transcription	Lung	lung
10	chr1:9972600-9988600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr1:9972600-10002200	Weak transcription	Right Atrium	heart
12	chr1:9972800-9989600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:9973000-9988400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:9975200-10002600	Weak transcription	Stomach Mucosa	stomach
15	chr1:9977000-9991800	Weak transcription	Brain Germinal Matrix	brain
16	chr1:9978200-9990200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:9980200-9988400	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:9980400-9990200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:9980800-9988600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:9981000-9989400	Weak transcription	Left Ventricle	heart
21	chr1:9982000-9987400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:9982000-9987800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:9982000-9987800	Weak transcription	Liver	Liver
24	chr1:9982400-9988400	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:9982800-9987400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:9982800-9988200	Weak transcription	Brain Angular Gyrus	brain
27	chr1:9982800-9988600	Weak transcription	K562	blood
28	chr1:9982800-9989600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:9983000-9989000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr1:9983200-9988400	Weak transcription	Ovary	ovary
31	chr1:9983200-9988600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:9983200-9989200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:9983200-10002200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr1:9983200-10002400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:9983400-9987800	Weak transcription	Fetal Intestine Large	intestine
36	chr1:9983600-9987400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:9983600-9987400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr1:9983600-9989000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:9983600-9989000	Weak transcription	Brain Substantia Nigra	brain
40	chr1:9983600-10002400	Weak transcription	Fetal Heart	heart
41	chr1:9983600-10002400	Weak transcription	Right Ventricle	heart
42	chr1:9984000-9988400	Weak transcription	Dnd41	blood
43	chr1:9984000-10002200	Weak transcription	HMEC	breast
44	chr1:9984200-9989000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr1:9984400-9987800	Weak transcription	Adipose Nuclei	Adipose
46	chr1:9984400-9988400	Weak transcription	Fetal Lung	lung
47	chr1:9984600-9988600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:9984600-9989000	Weak transcription	HSMM	muscle
49	chr1:9984600-9996400	Weak transcription	NHDF-Ad	bronchial
50	chr1:9984600-10002600	Weak transcription	Esophagus	oesophagus

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