Variant report

Variant	rs34627492
Chromosome Location	chr1:171693996-171693997
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1045456	0.88[EUR][1000 genomes]
rs10489252	0.88[EUR][1000 genomes]
rs10913683	0.88[EUR][1000 genomes]
rs10913684	0.88[EUR][1000 genomes]
rs12091786	0.88[EUR][1000 genomes]
rs12565176	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12567851	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12730717	0.88[EUR][1000 genomes]
rs12742601	0.89[EUR][1000 genomes]
rs12753043	0.88[EUR][1000 genomes]
rs17596025	0.89[EUR][1000 genomes]
rs17596081	0.89[EUR][1000 genomes]
rs17649609	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17650310	0.88[EUR][1000 genomes]
rs17650340	0.88[EUR][1000 genomes]
rs17657363	0.81[EUR][1000 genomes]
rs1801898	0.88[EUR][1000 genomes]
rs2143369	0.88[EUR][1000 genomes]
rs2181216	0.89[EUR][1000 genomes]
rs2223602	0.89[EUR][1000 genomes]
rs2232807	0.88[EUR][1000 genomes]
rs2232813	0.88[EUR][1000 genomes]
rs2232819	0.89[EUR][1000 genomes]
rs2232824	0.88[EUR][1000 genomes]
rs236894	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs236897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs236898	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs236899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs236900	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34320898	0.89[EUR][1000 genomes]
rs35249022	0.87[EUR][1000 genomes]
rs35400839	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35631282	0.89[EUR][1000 genomes]
rs35674909	0.89[EUR][1000 genomes]
rs35882887	0.88[EUR][1000 genomes]
rs35930163	0.88[EUR][1000 genomes]
rs36080557	0.88[EUR][1000 genomes]
rs3891278	0.88[EUR][1000 genomes]
rs55732843	0.81[EUR][1000 genomes]
rs56365362	0.88[EUR][1000 genomes]
rs56377810	0.89[EUR][1000 genomes]
rs61807979	0.88[EUR][1000 genomes]
rs6656852	0.88[EUR][1000 genomes]
rs6674364	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6675708	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6681322	0.88[EUR][1000 genomes]
rs6689125	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6695933	0.89[EUR][1000 genomes]
rs7522582	0.88[EUR][1000 genomes]
rs7536142	0.88[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
rs34627492	KIAA0859	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 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	chr1:171674000-171696400	Weak transcription	HSMM	muscle
9	chr1:171674800-171696800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:171674800-171697200	Weak transcription	Ovary	ovary
11	chr1:171677200-171698800	Weak transcription	Aorta	Aorta
12	chr1:171679000-171696000	Weak transcription	Fetal Intestine Large	intestine
13	chr1:171686000-171696800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:171686000-171699000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:171686400-171696800	Weak transcription	NH-A	brain
16	chr1:171686600-171695400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:171686600-171710400	Weak transcription	Esophagus	oesophagus
18	chr1:171686600-171710400	Weak transcription	Gastric	stomach
19	chr1:171686800-171695400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:171686800-171704600	Weak transcription	NHEK	skin
21	chr1:171687000-171696200	Weak transcription	Placenta	Placenta
22	chr1:171687000-171704600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:171687600-171696600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:171687600-171704600	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:171687600-171708000	Weak transcription	K562	blood
26	chr1:171687800-171696400	Weak transcription	NHLF	lung
27	chr1:171688000-171695600	Weak transcription	Osteobl	bone
28	chr1:171688400-171698800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:171690800-171699000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:171691800-171696400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:171692000-171694000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr1:171692000-171694400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:171692400-171694200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:171692400-171695400	Weak transcription	NHDF-Ad	bronchial
35	chr1:171692400-171695600	Weak transcription	Fetal Thymus	thymus
36	chr1:171692400-171695800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:171692400-171696400	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:171692400-171696600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:171692400-171697000	Weak transcription	Left Ventricle	heart
40	chr1:171692400-171705800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:171692400-171708400	Weak transcription	Brain Substantia Nigra	brain
42	chr1:171692400-171710400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:171692400-171710400	Weak transcription	Lung	lung
44	chr1:171692600-171694200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr1:171692600-171694800	Weak transcription	Fetal Stomach	stomach
46	chr1:171692600-171696000	Weak transcription	Fetal Muscle Leg	muscle
47	chr1:171692600-171696200	Weak transcription	Dnd41	blood
48	chr1:171692600-171696400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:171692600-171696400	Weak transcription	Fetal Brain Female	brain
50	chr1:171692600-171696400	Weak transcription	Rectal Mucosa Donor 29	rectum

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