Variant report

Variant	rs12438021
Chromosome Location	chr15:42848701-42848702
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:42848592-42848724	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42840002..42842496-chr15:42846261..42849092,2	MCF-7	breast:

Variant related genes	Relation type
HAUS2	TF binding region
ENSG00000137814	Chromatin interaction
ENSG00000180979	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10454692	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1048571	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070375	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11630625	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11630681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11633112	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11635041	0.87[EUR][1000 genomes]
rs11635076	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11635889	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11636209	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12439377	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12440506	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12910538	0.84[AMR][1000 genomes]
rs17709596	0.83[EUR][1000 genomes]
rs17709867	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17766258	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17767264	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17767270	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41315252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56069741	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56172155	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62019280	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62019282	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62019285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62019287	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62019294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019312	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019315	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019320	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62019322	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62022316	0.83[EUR][1000 genomes]
rs62022318	0.84[EUR][1000 genomes]
rs7182376	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72711767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8039240	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8042618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12438021	CEP27	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42841600-42850800	Weak transcription	Pancreas	Pancrea
2	chr15:42841600-42851000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr15:42841600-42851200	Weak transcription	Colon Smooth Muscle	Colon
4	chr15:42841600-42851600	Weak transcription	Lung	lung
5	chr15:42841600-42852000	Weak transcription	Gastric	stomach
6	chr15:42841600-42853600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:42841600-42854200	Weak transcription	Aorta	Aorta
8	chr15:42841600-42854200	Weak transcription	Esophagus	oesophagus
9	chr15:42841600-42854200	Weak transcription	Spleen	Spleen
10	chr15:42841600-42866800	Weak transcription	Stomach Mucosa	stomach
11	chr15:42841800-42848800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:42841800-42850400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr15:42841800-42857000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:42841800-42867000	Weak transcription	Ovary	ovary
15	chr15:42842200-42850200	Weak transcription	Primary T cells from cord blood	blood
16	chr15:42842200-42850400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:42842200-42850800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:42842200-42851000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr15:42842200-42851400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr15:42842200-42853000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr15:42842200-42854200	Weak transcription	Right Ventricle	heart
22	chr15:42842200-42856000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr15:42842200-42867000	Weak transcription	Psoas Muscle	Psoas
24	chr15:42842400-42848800	Weak transcription	Fetal Muscle Leg	muscle
25	chr15:42842400-42849800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr15:42842400-42849800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr15:42842400-42849800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr15:42842400-42849800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr15:42842400-42850400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr15:42842400-42850400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr15:42842400-42850600	Weak transcription	Fetal Intestine Small	intestine
32	chr15:42842400-42850800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr15:42842400-42850800	Weak transcription	HMEC	breast
34	chr15:42842400-42851000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr15:42842400-42851000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:42842400-42851000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:42842400-42851000	Weak transcription	Liver	Liver
38	chr15:42842400-42851000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr15:42842400-42851200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr15:42842400-42851400	Weak transcription	Placenta	Placenta
41	chr15:42842400-42851400	Weak transcription	Left Ventricle	heart
42	chr15:42842400-42851400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr15:42842400-42851400	Weak transcription	HSMMtube	muscle
44	chr15:42842400-42851600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr15:42842400-42851600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr15:42842400-42851600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr15:42842400-42851600	Weak transcription	NH-A	brain
48	chr15:42842400-42852000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr15:42842400-42853400	Weak transcription	HSMM	muscle
50	chr15:42842400-42854600	Weak transcription	A549	lung

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