Variant report

Variant	rs413646
Chromosome Location	chr15:93209330-93209331
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:93207992..93209553-chr15:93211342..93213959,2	K562	blood:
2	chr15:93208505..93210593-chr15:93213536..93216229,2	K562	blood:
3	chr15:93146697..93148727-chr15:93208767..93210664,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11857315	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12907094	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs172263	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs172264	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs285746	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs285747	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs374653	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs376138	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs380184	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs389334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs391059	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs401072	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs438230	0.82[AFR][1000 genomes];0.97[ASN][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	nsv1037972	chr15:92804908-93270761	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
3	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS 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	151 gene(s)	inside rSNPs	diseases
5	nsv1040501	chr15:93177153-93286393	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs413646	LOC400451	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93199600-93210000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:93204000-93210600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:93207200-93210200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:93207200-93211800	Enhancers	Fetal Muscle Trunk	muscle
5	chr15:93207200-93213000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:93207400-93210000	Enhancers	A549	lung
7	chr15:93207600-93210200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr15:93207600-93211200	Enhancers	Pancreas	Pancrea
9	chr15:93207600-93211800	Enhancers	Fetal Muscle Leg	muscle
10	chr15:93207800-93209400	Enhancers	Fetal Brain Male	brain
11	chr15:93207800-93210000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:93207800-93211800	Enhancers	Liver	Liver
13	chr15:93207800-93211800	Enhancers	Fetal Stomach	stomach
14	chr15:93208000-93210200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr15:93208200-93209600	Enhancers	Stomach Mucosa	stomach
16	chr15:93208200-93211800	Enhancers	Fetal Heart	heart
17	chr15:93208200-93212000	Enhancers	Fetal Intestine Small	intestine
18	chr15:93208400-93209400	Weak transcription	Fetal Intestine Large	intestine
19	chr15:93208400-93209400	Weak transcription	Left Ventricle	heart
20	chr15:93208400-93209400	Weak transcription	Ovary	ovary
21	chr15:93208400-93209600	Weak transcription	Colonic Mucosa	Colon
22	chr15:93208400-93209600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr15:93208400-93210000	Weak transcription	Lung	lung
24	chr15:93208400-93210000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr15:93208400-93210200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:93208400-93210200	Weak transcription	Gastric	stomach
27	chr15:93208400-93210400	Weak transcription	HUVEC	blood vessel
28	chr15:93208400-93210800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr15:93208400-93212000	Enhancers	Fetal Kidney	kidney
30	chr15:93208600-93209600	Weak transcription	Right Ventricle	heart
31	chr15:93208600-93209800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr15:93208600-93210200	Weak transcription	Fetal Thymus	thymus
33	chr15:93208600-93210400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr15:93208600-93210600	Weak transcription	HSMM	muscle
35	chr15:93208800-93209400	Weak transcription	Right Atrium	heart
36	chr15:93208800-93209600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr15:93208800-93209800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr15:93208800-93210000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr15:93208800-93210000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:93208800-93210400	Enhancers	Rectal Smooth Muscle	rectum
41	chr15:93208800-93210600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr15:93208800-93211000	Enhancers	Adipose Nuclei	Adipose
43	chr15:93208800-93211600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr15:93209000-93209400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr15:93209000-93209400	Enhancers	Stomach Smooth Muscle	stomach
46	chr15:93209000-93209600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:93209000-93210000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr15:93209000-93210000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr15:93209000-93210000	Weak transcription	Brain Hippocampus Middle	brain
50	chr15:93209000-93210200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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