Variant report

Variant	rs3742879
Chromosome Location	chr14:68115001-68115002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68085426..68087639-chr14:68113722..68116583,2	K562	blood:
2	chr14:68102169..68104966-chr14:68114666..68116181,2	K562	blood:

Variant related genes	Relation type
ENSG00000081181	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1040598	1.00[JPT][hapmap]
rs11158694	1.00[JPT][hapmap]
rs11621019	1.00[JPT][hapmap]
rs11621258	0.92[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11626769	1.00[JPT][hapmap]
rs11629282	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12433710	1.00[JPT][hapmap]
rs12891164	1.00[JPT][hapmap]
rs12893157	1.00[JPT][hapmap]
rs1543391	1.00[JPT][hapmap]
rs17191694	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs17782224	1.00[YRI][hapmap]
rs17783094	1.00[JPT][hapmap]
rs1810523	1.00[JPT][hapmap]
rs181561	1.00[JPT][hapmap]
rs181564	1.00[JPT][hapmap]
rs181565	1.00[JPT][hapmap]
rs181570	1.00[JPT][hapmap]
rs181576	1.00[JPT][hapmap]
rs2145467	1.00[YRI][hapmap]
rs2235967	1.00[JPT][hapmap]
rs2295106	1.00[JPT][hapmap]
rs2295107	1.00[JPT][hapmap]
rs2874132	1.00[JPT][hapmap]
rs2874133	1.00[JPT][hapmap]
rs4143685	1.00[JPT][hapmap]
rs61991868	0.93[ASN][1000 genomes]
rs7143196	1.00[JPT][hapmap]
rs7143496	1.00[JPT][hapmap]
rs7149482	1.00[JPT][hapmap]
rs7159622	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	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3742879	EXD2	cis	cerebellum	SCAN
rs3742879	PIGH	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68088800-68123000	Weak transcription	Fetal Brain Male	brain
2	chr14:68089600-68116200	Weak transcription	Fetal Kidney	kidney
3	chr14:68090000-68115800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr14:68091800-68116600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:68107600-68115400	Weak transcription	NHLF	lung
6	chr14:68108600-68115600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:68109000-68130000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:68109000-68133200	Weak transcription	Stomach Mucosa	stomach
9	chr14:68109200-68115800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:68109400-68116800	Strong transcription	NHEK	skin
11	chr14:68109800-68115200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:68109800-68124400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:68109800-68126000	Strong transcription	Fetal Brain Female	brain
14	chr14:68110400-68115600	Weak transcription	Gastric	stomach
15	chr14:68110800-68115800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr14:68110800-68115800	Weak transcription	Small Intestine	intestine
17	chr14:68110800-68116600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:68111000-68115600	Weak transcription	Fetal Stomach	stomach
19	chr14:68111000-68126800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:68111000-68135200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr14:68111200-68115600	Weak transcription	Colonic Mucosa	Colon
22	chr14:68111400-68115200	Weak transcription	Right Ventricle	heart
23	chr14:68111400-68119000	Strong transcription	K562	blood
24	chr14:68111600-68115800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr14:68111600-68116200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:68111800-68115400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:68111800-68117000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:68111800-68126000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:68112000-68117000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:68112000-68124200	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr14:68112000-68124400	Strong transcription	Brain Germinal Matrix	brain
32	chr14:68112000-68129400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:68112000-68129800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr14:68112200-68116800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:68112200-68116800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:68112200-68116800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:68112200-68117400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:68112200-68120400	Strong transcription	Adipose Nuclei	Adipose
39	chr14:68112200-68121200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:68112200-68125000	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr14:68112200-68126800	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr14:68112200-68126800	Strong transcription	Placenta	Placenta
43	chr14:68112200-68127000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:68112200-68127000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:68112200-68127200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:68112200-68127200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr14:68112200-68128000	Strong transcription	Dnd41	blood
48	chr14:68112200-68128200	Strong transcription	Primary T cells from cord blood	blood
49	chr14:68112200-68128200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:68112200-68129200	Strong transcription	Primary monocytes fromperipheralblood	blood

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