Variant report

Variant	rs1811698
Chromosome Location	chr1:150772613-150772614
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10788795	0.95[ASN][1000 genomes]
rs10888396	0.90[ASN][1000 genomes]
rs11204700	0.81[ASN][1000 genomes]
rs11204714	0.83[ASN][1000 genomes]
rs11204715	0.83[ASN][1000 genomes]
rs11204727	0.91[ASN][1000 genomes]
rs11576175	0.89[ASN][1000 genomes]
rs12728254	0.85[ASN][1000 genomes]
rs16840074	0.83[ASN][1000 genomes]
rs2134688	0.85[ASN][1000 genomes]
rs3738483	0.86[ASN][1000 genomes]
rs3768017	0.83[ASN][1000 genomes]
rs3820541	0.81[ASN][1000 genomes]
rs3820543	0.82[ASN][1000 genomes]
rs4379678	0.87[ASN][1000 genomes]
rs61817598	0.83[ASN][1000 genomes]
rs61817600	0.87[ASN][1000 genomes]
rs6661100	0.91[ASN][1000 genomes]
rs6671703	0.83[ASN][1000 genomes]
rs6684611	0.91[ASN][1000 genomes]
rs6692277	0.91[ASN][1000 genomes]
rs6696167	0.89[ASN][1000 genomes]
rs72704624	0.91[ASN][1000 genomes]
rs7517566	0.84[ASN][1000 genomes]
rs7529204	0.81[ASN][1000 genomes]
rs7535975	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv437169	chr1:150738197-150816886	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	nsv2788	chr1:150755334-150800785	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv160180	chr1:150765276-150772670	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1811698	ARNT	cis	Whole Blood	GTEx
rs1811698	CTSK	cis	Artery Aorta	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150760600-150779600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:150761200-150783200	Weak transcription	GM12878-XiMat	blood
3	chr1:150762400-150779200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:150762400-150780000	Weak transcription	NHEK	skin
5	chr1:150764600-150781600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:150765400-150781400	Weak transcription	HMEC	breast
7	chr1:150765400-150793600	Weak transcription	Fetal Heart	heart
8	chr1:150766800-150773600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:150766800-150775800	Weak transcription	HUVEC	blood vessel
10	chr1:150767000-150779400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:150767200-150779400	Weak transcription	Fetal Brain Male	brain
12	chr1:150767400-150773000	Strong transcription	Fetal Stomach	stomach
13	chr1:150767400-150773600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:150767400-150773600	Strong transcription	Stomach Smooth Muscle	stomach
15	chr1:150767600-150773600	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr1:150767600-150774000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:150767600-150783600	Weak transcription	Psoas Muscle	Psoas
18	chr1:150767800-150773200	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:150767800-150773200	Strong transcription	Osteobl	bone
20	chr1:150767800-150773400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr1:150767800-150773600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:150767800-150777000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:150767800-150778400	Strong transcription	Fetal Muscle Leg	muscle
24	chr1:150767800-150780200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:150768000-150776600	Strong transcription	Placenta	Placenta
26	chr1:150768000-150777000	Strong transcription	Liver	Liver
27	chr1:150768200-150773000	Strong transcription	NHLF	lung
28	chr1:150768200-150773400	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:150768200-150773600	Strong transcription	Adipose Nuclei	Adipose
30	chr1:150768200-150784000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:150768600-150773400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:150768800-150773400	Strong transcription	Rectal Smooth Muscle	rectum
33	chr1:150768800-150773600	Strong transcription	HSMM	muscle
34	chr1:150769000-150773400	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:150769400-150785200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr1:150769800-150772800	Weak transcription	NH-A	brain
37	chr1:150770000-150781600	Weak transcription	HSMMtube	muscle
38	chr1:150770400-150773400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr1:150770400-150778400	Weak transcription	Gastric	stomach
40	chr1:150770400-150783400	Weak transcription	Stomach Mucosa	stomach
41	chr1:150770600-150773200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:150770600-150773400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:150770600-150779200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr1:150770600-150779600	Weak transcription	Fetal Thymus	thymus
45	chr1:150770600-150783600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:150770800-150780600	Weak transcription	Esophagus	oesophagus
47	chr1:150771000-150773000	Genic enhancers	NHDF-Ad	bronchial
48	chr1:150771000-150773400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:150771200-150784600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:150771200-150785400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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