Variant report

Variant	rs12595838
Chromosome Location	chr15:44868990-44868991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44866669..44868374-chr15:44868435..44870746,2	K562	blood:

Variant related genes	Relation type
ENSG00000104133	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10152685	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10162700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12324005	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12324710	1.00[CEU][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap]
rs12591118	1.00[EUR][1000 genomes]
rs12591178	0.80[CHB][hapmap];0.92[JPT][hapmap]
rs12591508	0.83[EUR][1000 genomes]
rs12591898	0.84[JPT][hapmap]
rs12592447	1.00[EUR][1000 genomes]
rs12592479	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12592995	0.92[JPT][hapmap]
rs12593632	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12594167	0.80[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap]
rs12594463	0.83[CHD][hapmap];0.84[JPT][hapmap]
rs12594578	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12594905	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs12594924	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12594967	1.00[EUR][1000 genomes]
rs12911238	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13380093	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2277610	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs2288341	1.00[GIH][hapmap]
rs2303577	1.00[GIH][hapmap]
rs2303578	0.88[GIH][hapmap]
rs2412908	1.00[CEU][hapmap]
rs2433350	0.80[CHD][hapmap];0.92[JPT][hapmap]
rs2555353	0.84[JPT][hapmap]
rs2556566	0.92[JPT][hapmap]
rs28566474	1.00[AMR][1000 genomes]
rs35286810	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs35932349	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs3759873	1.00[CEU][hapmap]
rs3784565	0.92[JPT][hapmap]
rs3784567	0.81[CHD][hapmap];0.92[JPT][hapmap]
rs3809471	0.80[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap]
rs3816928	0.92[JPT][hapmap]
rs3986142	0.81[CHD][hapmap];0.92[JPT][hapmap]
rs3986143	0.81[CHD][hapmap];0.84[JPT][hapmap]
rs4477677	0.80[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap]
rs4577056	0.80[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap]
rs57488532	1.00[EUR][1000 genomes]
rs62024130	1.00[AMR][1000 genomes]
rs7162671	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs7163287	0.83[EUR][1000 genomes]
rs7166278	0.81[CHD][hapmap];0.92[JPT][hapmap]
rs7166945	0.92[JPT][hapmap]
rs7169333	0.91[JPT][hapmap]
rs7172106	0.81[CHD][hapmap];0.92[JPT][hapmap]
rs7178318	0.92[JPT][hapmap]
rs7179390	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7181772	0.81[CHD][hapmap];0.92[JPT][hapmap]
rs8023453	0.92[JPT][hapmap]
rs8026945	0.92[JPT][hapmap]
rs8037922	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8040923	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs883943	0.81[CHD][hapmap];0.92[JPT][hapmap]
rs9672237	0.92[JPT][hapmap]
rs9673085	0.92[JPT][hapmap]
rs9806511	1.00[CEU][hapmap];1.00[JPT][hapmap]

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	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12595838	PALLD	trans	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44842000-44951600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr15:44844000-44870400	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr15:44858000-44900200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:44858200-44869600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:44858400-44870200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr15:44858400-44897200	Strong transcription	Fetal Stomach	stomach
7	chr15:44858600-44877800	Weak transcription	HUVEC	blood vessel
8	chr15:44858600-44880800	Strong transcription	Fetal Intestine Small	intestine
9	chr15:44858800-44870600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr15:44858800-44870600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr15:44859000-44872000	Weak transcription	NH-A	brain
12	chr15:44859000-44875200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr15:44859000-44878800	Weak transcription	Stomach Mucosa	stomach
14	chr15:44859000-44881200	Weak transcription	Fetal Brain Male	brain
15	chr15:44859000-44887800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:44859200-44875800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr15:44859200-44875800	Weak transcription	Small Intestine	intestine
18	chr15:44859800-44880800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr15:44859800-44887600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr15:44860200-44874200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr15:44860800-44875000	Weak transcription	A549	lung
22	chr15:44861600-44882200	Weak transcription	Psoas Muscle	Psoas
23	chr15:44863200-44870600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr15:44863400-44874400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr15:44863400-44876000	Weak transcription	Pancreas	Pancrea
26	chr15:44863400-44881000	Weak transcription	Right Ventricle	heart
27	chr15:44863600-44874200	Weak transcription	HSMM	muscle
28	chr15:44865000-44871800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:44865000-44871800	Weak transcription	K562	blood
30	chr15:44865000-44872000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr15:44865000-44875800	Weak transcription	HMEC	breast
32	chr15:44865200-44874000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr15:44865200-44874600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr15:44865800-44870800	Weak transcription	Fetal Kidney	kidney
35	chr15:44865800-44871800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr15:44866000-44870600	Weak transcription	Brain Anterior Caudate	brain
37	chr15:44866000-44872000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr15:44866000-44873000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr15:44866000-44875000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr15:44866000-44875000	Weak transcription	HepG2	liver
41	chr15:44866000-44875400	Weak transcription	Spleen	Spleen
42	chr15:44866200-44872000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr15:44866200-44874400	Weak transcription	Brain Hippocampus Middle	brain
44	chr15:44866200-44874600	Weak transcription	Brain Angular Gyrus	brain
45	chr15:44866200-44875600	Weak transcription	NHDF-Ad	bronchial
46	chr15:44866200-44875800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr15:44866200-44875800	Weak transcription	Ovary	ovary
48	chr15:44866400-44871800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr15:44866400-44872400	Weak transcription	Placenta	Placenta
50	chr15:44866400-44875200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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