Variant report

Variant	rs10942738
Chromosome Location	chr5:74761209-74761210
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10038689	1.00[TSI][hapmap]
rs10060056	1.00[EUR][1000 genomes]
rs10063134	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10473973	1.00[EUR][1000 genomes]
rs11951439	1.00[LWK][hapmap]
rs9293653	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv882198	chr5:74736065-74896798	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10942738	PSMD2	trans	lymphoblastoid	RTeQTL

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74674400-74761400	Weak transcription	Esophagus	oesophagus
2	chr5:74732000-74787400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:74740000-74761600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:74742400-74794200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:74742600-74764200	Weak transcription	HSMM	muscle
6	chr5:74743000-74761400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr5:74743000-74761600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr5:74743000-74763400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:74743000-74764400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:74743200-74764200	Weak transcription	Aorta	Aorta
11	chr5:74743800-74761400	Weak transcription	Fetal Thymus	thymus
12	chr5:74743800-74761400	Weak transcription	Thymus	Thymus
13	chr5:74743800-74761800	Weak transcription	K562	blood
14	chr5:74748200-74761400	Weak transcription	Right Ventricle	heart
15	chr5:74748600-74770400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:74750600-74763600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:74751000-74761400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:74751000-74761400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr5:74751000-74761400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:74751200-74761400	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:74751200-74762000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:74751600-74761600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:74751600-74769000	Weak transcription	Liver	Liver
24	chr5:74752200-74761600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr5:74752400-74761600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:74753400-74762000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr5:74754000-74761600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr5:74754600-74762800	Weak transcription	Fetal Intestine Large	intestine
29	chr5:74754600-74764000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:74756800-74764000	Weak transcription	Fetal Kidney	kidney
31	chr5:74757000-74761400	Weak transcription	Brain Angular Gyrus	brain
32	chr5:74757200-74762000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:74757200-74763000	Weak transcription	Stomach Mucosa	stomach
34	chr5:74757400-74762400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr5:74757600-74761400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:74757600-74762000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr5:74757800-74764200	Weak transcription	A549	lung
38	chr5:74758200-74761600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr5:74758400-74761400	Weak transcription	Psoas Muscle	Psoas
40	chr5:74758400-74761600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:74758400-74764000	Weak transcription	NHDF-Ad	bronchial
42	chr5:74758400-74764600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr5:74758600-74764200	Weak transcription	Fetal Stomach	stomach
44	chr5:74759400-74762800	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr5:74759600-74763000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:74759800-74761400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:74759800-74761400	Weak transcription	Brain Substantia Nigra	brain
48	chr5:74759800-74761800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr5:74759800-74764200	Weak transcription	Fetal Brain Male	brain
50	chr5:74760000-74761400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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