Variant report

Variant	rs10138287
Chromosome Location	chr14:55657310-55657311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55517345..55520488-chr14:55656247..55658381,3	K562	blood:
2	chr14:55634555..55636876-chr14:55655010..55657376,2	K562	blood:
3	chr14:55516908..55519746-chr14:55654326..55658338,3	K562	blood:

Variant related genes	Relation type
ENSG00000168175	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10129944	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10132251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10133318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10133839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10134482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10134533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10135042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10137382	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10140700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10141962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10142150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10142435	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10143190	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10146432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10148371	0.91[LWK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10149038	0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10151981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10438128	1.00[EUR][1000 genomes]
rs13379284	0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128204	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17128286	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128299	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128411	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28415601	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28458773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28459500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28488729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28584735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34630492	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60302297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60342915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8010658	1.00[MEX][hapmap]
rs9323281	1.00[MEX][hapmap];1.00[TSI][hapmap];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	nsv1035158	chr14:55638386-55684228	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10138287	DLG7	cis	multi-tissue	Pritchard

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55613400-55657800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:55645800-55657400	Weak transcription	Fetal Intestine Small	intestine
3	chr14:55649800-55657600	Weak transcription	Placenta	Placenta
4	chr14:55655200-55658000	Flanking Active TSS	HUVEC	blood vessel
5	chr14:55655600-55657800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr14:55655800-55657400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:55655800-55657600	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr14:55656000-55659000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:55656200-55657400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:55656200-55657600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:55656200-55657600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:55656200-55657600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr14:55656200-55657600	Flanking Active TSS	Dnd41	blood
14	chr14:55656200-55657800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr14:55656200-55658000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr14:55656200-55659000	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr14:55656200-55659200	Active TSS	NHDF-Ad	bronchial
18	chr14:55656400-55657400	Flanking Active TSS	NHEK	skin
19	chr14:55656400-55657600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:55656400-55659000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:55656400-55659000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:55656600-55657600	Active TSS	Fetal Brain Female	brain
23	chr14:55656600-55657800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr14:55656600-55657800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:55656600-55658800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:55656600-55658800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:55656600-55659000	Active TSS	H9 Cell Line	embryonic stem cell
28	chr14:55656600-55659000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:55656600-55659200	Active TSS	HSMM	muscle
30	chr14:55656600-55659400	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr14:55656800-55657400	Weak transcription	Gastric	stomach
32	chr14:55656800-55657400	Active TSS	NH-A	brain
33	chr14:55656800-55658800	Active TSS	H1 Cell Line	embryonic stem cell
34	chr14:55656800-55658800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:55656800-55658800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:55656800-55659000	Active TSS	NHLF	lung
37	chr14:55657000-55657400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr14:55657000-55657400	Weak transcription	Fetal Intestine Large	intestine
39	chr14:55657000-55657400	Active TSS	Fetal Kidney	kidney
40	chr14:55657000-55657600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:55657000-55657600	Active TSS	Fetal Muscle Trunk	muscle
42	chr14:55657000-55657600	Active TSS	Fetal Muscle Leg	muscle
43	chr14:55657000-55657600	Active TSS	Fetal Thymus	thymus
44	chr14:55657000-55657600	Active TSS	HepG2	liver
45	chr14:55657000-55657800	Active TSS	Brain Germinal Matrix	brain
46	chr14:55657000-55657800	Active TSS	Thymus	Thymus
47	chr14:55657000-55658000	Flanking Active TSS	Osteobl	bone
48	chr14:55657000-55658200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:55657000-55658800	Active TSS	HMEC	breast
50	chr14:55657000-55659000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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