Variant report

Variant	rs12567851
Chromosome Location	chr1:171698911-171698912
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	chr1:171621375..171623706-chr1:171697958..171699845,2	K562	blood:
2	chr1:171696496..171698360-chr1:171698518..171700824,2	K562	blood:

Variant related genes	Relation type
ENSG00000034971	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1045456	0.87[EUR][1000 genomes]
rs10489252	0.87[EUR][1000 genomes]
rs10913683	0.87[EUR][1000 genomes]
rs10913684	0.87[EUR][1000 genomes]
rs12091786	0.87[EUR][1000 genomes]
rs12565176	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12730717	0.87[EUR][1000 genomes]
rs12742601	0.88[EUR][1000 genomes]
rs12753043	0.87[EUR][1000 genomes]
rs17596025	0.88[EUR][1000 genomes]
rs17596081	0.88[EUR][1000 genomes]
rs17649609	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17650310	0.87[EUR][1000 genomes]
rs17650340	0.87[EUR][1000 genomes]
rs1801898	0.87[EUR][1000 genomes]
rs2143369	0.87[EUR][1000 genomes]
rs2181216	0.88[EUR][1000 genomes]
rs2223602	0.88[EUR][1000 genomes]
rs2232807	0.86[EUR][1000 genomes]
rs2232813	0.87[EUR][1000 genomes]
rs2232819	0.88[EUR][1000 genomes]
rs2232824	0.87[EUR][1000 genomes]
rs236894	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs236897	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs236898	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs236899	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs236900	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34320898	0.88[EUR][1000 genomes]
rs34627492	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35249022	0.85[EUR][1000 genomes]
rs35400839	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35631282	0.88[EUR][1000 genomes]
rs35674909	0.88[EUR][1000 genomes]
rs35882887	0.87[EUR][1000 genomes]
rs35930163	0.87[EUR][1000 genomes]
rs36080557	0.87[EUR][1000 genomes]
rs3891278	0.87[EUR][1000 genomes]
rs56365362	0.87[EUR][1000 genomes]
rs56377810	0.88[EUR][1000 genomes]
rs61807979	0.87[EUR][1000 genomes]
rs6656852	0.87[EUR][1000 genomes]
rs6674364	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6675708	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6681322	0.87[EUR][1000 genomes]
rs6689125	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6695933	0.88[EUR][1000 genomes]
rs7522582	0.87[EUR][1000 genomes]
rs7536142	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv1800458	chr1:171667663-171701129	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12567851	KIAA0859	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171665600-171705600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:171665600-171708800	Weak transcription	Brain Angular Gyrus	brain
3	chr1:171666000-171705400	Weak transcription	Pancreas	Pancrea
4	chr1:171666800-171702400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:171668800-171705400	Weak transcription	Right Ventricle	heart
6	chr1:171668800-171708200	Weak transcription	Small Intestine	intestine
7	chr1:171669600-171705400	Weak transcription	Fetal Brain Male	brain
8	chr1:171686000-171699000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:171686600-171710400	Weak transcription	Esophagus	oesophagus
10	chr1:171686600-171710400	Weak transcription	Gastric	stomach
11	chr1:171686800-171704600	Weak transcription	NHEK	skin
12	chr1:171687000-171704600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:171687600-171704600	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:171687600-171708000	Weak transcription	K562	blood
15	chr1:171690800-171699000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:171692400-171705800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:171692400-171708400	Weak transcription	Brain Substantia Nigra	brain
18	chr1:171692400-171710400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:171692400-171710400	Weak transcription	Lung	lung
20	chr1:171692600-171699000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:171692600-171705000	Weak transcription	Thymus	Thymus
22	chr1:171692600-171705400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:171692600-171705600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:171692600-171708400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:171692600-171709800	Weak transcription	Stomach Mucosa	stomach
26	chr1:171692600-171710200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:171692800-171704800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:171692800-171705600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:171693200-171699000	Weak transcription	HUVEC	blood vessel
30	chr1:171693200-171705000	Weak transcription	Fetal Intestine Small	intestine
31	chr1:171693200-171705400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:171693200-171709800	Weak transcription	Fetal Kidney	kidney
33	chr1:171694200-171699000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:171694200-171699200	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr1:171694200-171699400	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:171694400-171700000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr1:171694400-171705200	Weak transcription	A549	lung
38	chr1:171694800-171704600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:171694800-171704800	Weak transcription	GM12878-XiMat	blood
40	chr1:171694800-171709000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:171695000-171710400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:171695400-171699600	Strong transcription	Primary T cells from cord blood	blood
43	chr1:171695600-171699400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:171695600-171699400	Strong transcription	Fetal Thymus	thymus
45	chr1:171695600-171708400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr1:171695800-171699200	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr1:171695800-171699600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:171696000-171699000	Strong transcription	Primary B cells from cord blood	blood
49	chr1:171696000-171699200	Strong transcription	Fetal Intestine Large	intestine
50	chr1:171696000-171699600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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