Variant report

Variant	rs8010888
Chromosome Location	chr14:105833679-105833680
allele	A/G
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	CEBPB	chr14:105833444-105833692	A549	lung:	n/a	chr14:105833549-105833560

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105830942..105834686-chr14:105992333..105996584,4	K562	blood:

Variant related genes	Relation type
PACS2	TF binding region
ENSG00000184986	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10132353	1.00[JPT][hapmap]
rs10132438	1.00[JPT][hapmap]
rs10141048	1.00[JPT][hapmap]
rs10141334	1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10142682	1.00[JPT][hapmap]
rs10147378	1.00[JPT][hapmap]
rs10147674	1.00[JPT][hapmap]
rs10148379	1.00[JPT][hapmap]
rs10148455	1.00[JPT][hapmap]
rs11846567	0.81[ASW][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11847128	1.00[JPT][hapmap]
rs11849421	1.00[JPT][hapmap]
rs12101178	1.00[JPT][hapmap]
rs28444495	0.81[AMR][1000 genomes]
rs28450137	1.00[ASN][1000 genomes]
rs28461287	0.81[AMR][1000 genomes]
rs28488281	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28529001	1.00[AMR][1000 genomes]
rs28548340	0.81[AMR][1000 genomes]
rs4074004	1.00[JPT][hapmap]
rs4076933	0.87[ASW][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4983411	1.00[JPT][hapmap]
rs57244820	0.81[AMR][1000 genomes]
rs7144362	1.00[JPT][hapmap]
rs7161158	1.00[JPT][hapmap]
rs73361060	1.00[AMR][1000 genomes]
rs8004328	1.00[JPT][hapmap]
rs8008801	0.93[ASW][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.86[MKK][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010649	0.81[ASW][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.90[MKK][hapmap]
rs8016693	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9671295	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9671890	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	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8010888	TMEM121	cis	lymphoblastoid	seeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105797000-105849200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr14:105808600-105848600	Weak transcription	HSMMtube	muscle
3	chr14:105810000-105833800	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:105814200-105848600	Weak transcription	Left Ventricle	heart
5	chr14:105818600-105846000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr14:105818800-105849200	Weak transcription	A549	lung
7	chr14:105821800-105842600	Weak transcription	Fetal Brain Male	brain
8	chr14:105822000-105848800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:105822800-105847800	Weak transcription	Liver	Liver
10	chr14:105823600-105863400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:105823800-105833800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:105823800-105837400	Weak transcription	HSMM	muscle
13	chr14:105823800-105846200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:105823800-105849600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:105825600-105834200	Weak transcription	Brain Anterior Caudate	brain
16	chr14:105825600-105848200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr14:105827600-105837800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:105827800-105847600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:105830600-105834600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr14:105831000-105863800	Weak transcription	Fetal Kidney	kidney
21	chr14:105831200-105834800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr14:105831400-105833800	Weak transcription	Fetal Lung	lung
23	chr14:105831400-105840600	Weak transcription	NHEK	skin
24	chr14:105831400-105844400	Weak transcription	Stomach Mucosa	stomach
25	chr14:105831400-105848800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr14:105831400-105864000	Weak transcription	Osteobl	bone
27	chr14:105831600-105837400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr14:105831600-105842000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr14:105831600-105842400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr14:105831600-105850600	Weak transcription	Fetal Heart	heart
31	chr14:105831600-105855200	Strong transcription	Fetal Stomach	stomach
32	chr14:105831600-105863200	Weak transcription	NHDF-Ad	bronchial
33	chr14:105831800-105834400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:105831800-105835000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr14:105831800-105837200	Strong transcription	Fetal Muscle Trunk	muscle
36	chr14:105831800-105837400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr14:105831800-105837400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr14:105831800-105838600	Strong transcription	Fetal Muscle Leg	muscle
39	chr14:105831800-105838600	Strong transcription	Lung	lung
40	chr14:105831800-105838800	Strong transcription	Fetal Intestine Large	intestine
41	chr14:105832000-105837200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr14:105832000-105837200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr14:105832000-105838600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:105832000-105841600	Strong transcription	Fetal Intestine Small	intestine
45	chr14:105832000-105842000	Weak transcription	Fetal Thymus	thymus
46	chr14:105832200-105837000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr14:105832200-105849600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr14:105832800-105833800	Genic enhancers	Brain Cingulate Gyrus	brain
49	chr14:105832800-105833800	Enhancers	Brain Substantia Nigra	brain
50	chr14:105832800-105834000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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