Variant report

Variant	rs7026251
Chromosome Location	chr9:108461844-108461845
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr9:108461472-108461970	K562	blood:	n/a	n/a
2	EP300	chr9:108461618-108462277	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:108459267..108461864-chr9:108470911..108472758,2	K562	blood:
2	chr9:108456828..108459510-chr9:108460242..108461913,3	MCF-7	breast:

Variant related genes	Relation type
TMEM38B	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10115634	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10118720	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10119254	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10512339	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10733555	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10739209	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10739210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10739211	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10739212	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10759127	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10759129	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10759131	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10816293	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10978213	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10978216	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2271247	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2271248	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3105993	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3793640	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3794486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6477461	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7019359	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7039618	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7039893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7859125	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7859253	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7862873	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9299110	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][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	nsv893693	chr9:108427062-108683134	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7026251	TMEM38B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108457800-108463200	Weak transcription	Small Intestine	intestine
2	chr9:108457800-108472800	Weak transcription	Spleen	Spleen
3	chr9:108457800-108476200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:108457800-108492200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr9:108458000-108468400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr9:108458000-108472400	Weak transcription	HSMM	muscle
7	chr9:108458000-108473000	Weak transcription	Left Ventricle	heart
8	chr9:108458000-108475200	Weak transcription	Fetal Thymus	thymus
9	chr9:108458000-108475600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:108458000-108475600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr9:108458000-108475600	Weak transcription	Thymus	Thymus
12	chr9:108458000-108476000	Weak transcription	Ovary	ovary
13	chr9:108458000-108479200	Weak transcription	Fetal Brain Male	brain
14	chr9:108458000-108497800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr9:108458200-108462400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr9:108458200-108462400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr9:108458200-108462600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr9:108458200-108468400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr9:108458200-108468600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr9:108458200-108470600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr9:108458200-108476400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr9:108458200-108478800	Weak transcription	Brain Hippocampus Middle	brain
23	chr9:108458200-108480800	Weak transcription	Brain Angular Gyrus	brain
24	chr9:108458200-108491400	Weak transcription	HSMMtube	muscle
25	chr9:108458200-108491600	Weak transcription	Brain Anterior Caudate	brain
26	chr9:108458200-108495400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr9:108458200-108497000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:108458400-108463000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:108458400-108463000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr9:108458400-108470200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr9:108458400-108470400	Weak transcription	Liver	Liver
32	chr9:108458600-108472600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr9:108458800-108462000	Weak transcription	Hela-S3	cervix
34	chr9:108458800-108470600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:108459000-108468200	Weak transcription	Fetal Muscle Leg	muscle
36	chr9:108459000-108476000	Weak transcription	Fetal Brain Female	brain
37	chr9:108459200-108468600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr9:108459200-108472400	Weak transcription	Dnd41	blood
39	chr9:108459200-108489400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr9:108459600-108463000	Weak transcription	Psoas Muscle	Psoas
41	chr9:108459600-108470200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr9:108459800-108462800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr9:108460400-108463000	Weak transcription	GM12878-XiMat	blood
44	chr9:108460600-108462800	Weak transcription	HepG2	liver
45	chr9:108461200-108462800	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr9:108461200-108463800	Enhancers	Primary hematopoietic stem cells	blood
47	chr9:108461200-108463800	Enhancers	Fetal Heart	heart
48	chr9:108461400-108462000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr9:108461400-108462200	Flanking Active TSS	K562	blood
50	chr9:108461400-108462800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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