Variant report

Variant	rs1336438
Chromosome Location	chr1:95663898-95663899
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95658251..95660293-chr1:95663492..95665052,2	K562	blood:
2	chr1:95645649..95647183-chr1:95663668..95665346,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10458507	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10747465	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10783000	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12098237	1.00[AMR][1000 genomes]
rs1998967	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs259358	0.88[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs59828565	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs613351	1.00[AMR][1000 genomes]
rs6593614	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6593615	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6593619	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6659370	0.82[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7365394	0.94[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap]
rs7366061	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7516500	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7532269	1.00[YRI][hapmap]
rs7540042	0.82[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv870669	chr1:95586773-95690269	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1336438	ADAM23	trans	lymphoblastoid	seeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95634400-95673200	Weak transcription	Gastric	stomach
2	chr1:95638200-95665000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:95650200-95665400	Weak transcription	Brain Anterior Caudate	brain
4	chr1:95658000-95664000	Enhancers	Fetal Heart	heart
5	chr1:95661600-95664000	Weak transcription	Right Ventricle	heart
6	chr1:95661600-95669600	Weak transcription	K562	blood
7	chr1:95662400-95665000	Weak transcription	Brain Angular Gyrus	brain
8	chr1:95662800-95664200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:95662800-95664200	Enhancers	HSMM	muscle
10	chr1:95663000-95664200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:95663000-95664400	Enhancers	HMEC	breast
12	chr1:95663200-95664000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:95663200-95664000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:95663200-95664000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:95663200-95664200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:95663200-95664200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:95663200-95664200	Enhancers	Fetal Muscle Leg	muscle
18	chr1:95663200-95664200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:95663200-95664200	Enhancers	NHEK	skin
20	chr1:95663400-95664000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:95663400-95664000	Strong transcription	Liver	Liver
22	chr1:95663400-95664000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr1:95663400-95664000	Enhancers	Stomach Smooth Muscle	stomach
24	chr1:95663400-95664200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:95663400-95664200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:95663600-95664000	Weak transcription	Left Ventricle	heart
27	chr1:95663600-95664200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:95663600-95664200	Enhancers	Psoas Muscle	Psoas
29	chr1:95663600-95664200	Enhancers	Right Atrium	heart
30	chr1:95663800-95664000	Enhancers	Duodenum Mucosa	Duodenum
31	chr1:95663800-95664000	Flanking Active TSS	HSMMtube	muscle
32	chr1:95663800-95665200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:95663800-95667000	Weak transcription	Fetal Lung	lung
34	chr1:95663800-95672800	Weak transcription	Pancreas	Pancrea

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