Variant report

Variant	rs12903416
Chromosome Location	chr15:42881039-42881040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42870994..42874548-chr15:42877350..42881148,3	K562	blood:
2	chr15:42867158..42870086-chr15:42878537..42881066,3	K562	blood:
3	chr15:42867158..42870552-chr15:42876715..42882343,6	K562	blood:

Variant related genes	Relation type
ENSG00000159433	Chromatin interaction
ENSG00000260282	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11070374	0.81[CHB][hapmap]
rs11631193	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11632169	1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs1197546	0.87[ASN][1000 genomes]
rs1197547	0.86[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1211642	0.89[ASN][1000 genomes]
rs1667493	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1705360	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs1814518	0.90[ASN][1000 genomes]
rs2241998	0.80[CHB][hapmap];0.84[AMR][1000 genomes]
rs4447398	0.93[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs4923949	0.83[ASN][1000 genomes]
rs565298	0.83[ASN][1000 genomes]
rs6493053	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6493054	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7168835	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs876992	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9783683	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.91[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
rs12903416	CEP27	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42869000-42887400	Weak transcription	Small Intestine	intestine
2	chr15:42874000-42883000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:42874200-42883400	Weak transcription	NHEK	skin
4	chr15:42874200-42883600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr15:42874200-42885800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:42874200-42894400	Weak transcription	A549	lung
7	chr15:42874200-42896600	Weak transcription	Hela-S3	cervix
8	chr15:42874400-42883400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr15:42874400-42884800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:42874400-42886400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:42874400-42887000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr15:42874400-42887000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr15:42874400-42887200	Weak transcription	Placenta	Placenta
14	chr15:42874400-42887800	Weak transcription	HSMMtube	muscle
15	chr15:42874400-42895800	Weak transcription	Thymus	Thymus
16	chr15:42874400-42900200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:42874400-42900200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr15:42874400-42900200	Weak transcription	Lung	lung
19	chr15:42874600-42881600	Weak transcription	Primary B cells from cord blood	blood
20	chr15:42874600-42888200	Weak transcription	Colonic Mucosa	Colon
21	chr15:42874600-42896200	Weak transcription	Primary T cells from cord blood	blood
22	chr15:42874800-42929800	Weak transcription	Fetal Brain Female	brain
23	chr15:42875400-42883000	Weak transcription	Ovary	ovary
24	chr15:42876000-42888400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr15:42876800-42883800	Weak transcription	Fetal Intestine Small	intestine
26	chr15:42876800-42885200	Weak transcription	NHLF	lung
27	chr15:42876800-42887200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr15:42876800-42887400	Weak transcription	Aorta	Aorta
29	chr15:42876800-42900200	Weak transcription	HMEC	breast
30	chr15:42877000-42881200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr15:42877000-42882400	Weak transcription	HepG2	liver
32	chr15:42877000-42883000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:42877000-42883000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:42877000-42883600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr15:42877000-42883600	Weak transcription	Fetal Lung	lung
36	chr15:42877000-42885000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr15:42877000-42885000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr15:42877000-42886800	Weak transcription	Right Atrium	heart
39	chr15:42877000-42887000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr15:42877000-42887400	Weak transcription	Fetal Kidney	kidney
41	chr15:42877000-42887400	Weak transcription	NH-A	brain
42	chr15:42877000-42888200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr15:42877000-42890200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr15:42877000-42896000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr15:42877000-42897000	Weak transcription	Right Ventricle	heart
46	chr15:42877000-42900200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr15:42877200-42882800	Weak transcription	Left Ventricle	heart
48	chr15:42877200-42883600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr15:42877200-42887800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr15:42877200-42888200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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