Variant report

Variant	rs6692491
Chromosome Location	chr1:10227894-10227895
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1074461	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11121525	0.81[EUR][1000 genomes]
rs11806008	0.86[EUR][1000 genomes]
rs12074936	0.90[EUR][1000 genomes]
rs17034545	0.80[ASN][1000 genomes]
rs17034558	0.80[ASN][1000 genomes]
rs17034560	0.80[ASN][1000 genomes]
rs2273298	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2273299	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35316894	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3762290	0.86[AFR][1000 genomes]
rs61782924	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61782933	0.80[ASN][1000 genomes]
rs61782936	0.80[ASN][1000 genomes]
rs61782937	0.80[ASN][1000 genomes]
rs61782938	0.80[ASN][1000 genomes]
rs6659436	0.80[ASN][1000 genomes]
rs6667049	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6671289	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9783053	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv522629	chr1:10125765-10239197	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6692491	LZIC	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10182200-10231200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:10182400-10229400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:10182800-10231400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:10184000-10235000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:10191200-10239600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:10193200-10231200	Weak transcription	Small Intestine	intestine
7	chr1:10194200-10232200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:10195600-10231200	Weak transcription	HUVEC	blood vessel
9	chr1:10201600-10231200	Weak transcription	HMEC	breast
10	chr1:10203400-10228000	Weak transcription	GM12878-XiMat	blood
11	chr1:10205600-10228000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:10211200-10236400	Strong transcription	Fetal Stomach	stomach
13	chr1:10213200-10231000	Weak transcription	A549	lung
14	chr1:10213800-10236000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr1:10214600-10235600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:10214600-10237000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr1:10215200-10229200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:10215400-10234400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:10216200-10236400	Strong transcription	Placenta	Placenta
20	chr1:10217800-10230200	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr1:10218000-10234600	Strong transcription	Liver	Liver
22	chr1:10218200-10229600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:10218200-10235800	Strong transcription	Fetal Muscle Trunk	muscle
24	chr1:10218200-10236600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:10218400-10236200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:10219800-10229600	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr1:10219800-10234000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:10220000-10230200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:10220000-10233800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:10221000-10236400	Strong transcription	Duodenum Mucosa	Duodenum
31	chr1:10221000-10236600	Strong transcription	Adipose Nuclei	Adipose
32	chr1:10221200-10230400	Strong transcription	Fetal Intestine Small	intestine
33	chr1:10221600-10229800	Strong transcription	Fetal Intestine Large	intestine
34	chr1:10221800-10242200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:10222000-10228000	Weak transcription	HepG2	liver
36	chr1:10222000-10236000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:10222200-10236400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr1:10222800-10228400	Strong transcription	Ovary	ovary
39	chr1:10223000-10235000	Strong transcription	Fetal Muscle Leg	muscle
40	chr1:10223000-10237800	Weak transcription	Psoas Muscle	Psoas
41	chr1:10224400-10233400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:10224400-10233400	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr1:10224400-10235000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:10224400-10235600	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:10224400-10236600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:10224600-10230600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:10224800-10229200	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr1:10224800-10234200	Strong transcription	Fetal Brain Female	brain
49	chr1:10224800-10236600	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:10225000-10230200	Strong transcription	Aorta	Aorta

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