Variant report

Variant	rs10149037
Chromosome Location	chr14:77921162-77921163
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77841945..77846770-chr14:77921022..77925977,11	MCF-7	breast:
2	chr14:77916294..77921948-chr14:77922001..77926650,9	K562	blood:
3	chr14:77838311..77841794-chr14:77920547..77923802,4	MCF-7	breast:
4	chr14:77919778..77921305-chr14:77931867..77934170,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100591	Chromatin interaction
ENSG00000100580	Chromatin interaction
ENSG00000212371	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000100583	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11159261	1.00[JPT][hapmap]
rs11539461	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11624314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844300	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12432582	0.85[ASN][1000 genomes]
rs12433120	0.84[AMR][1000 genomes]
rs12433521	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12434419	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12435136	1.00[JPT][hapmap]
rs12435676	0.90[ASN][1000 genomes]
rs12897689	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379432	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap]
rs17105749	0.81[AMR][1000 genomes]
rs17751406	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17751412	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17824034	1.00[JPT][hapmap]
rs17824214	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17824322	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2063997	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28583775	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28590531	0.81[AMR][1000 genomes]
rs3742737	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs3783985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap]
rs4899652	1.00[JPT][hapmap]
rs4903578	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4903579	1.00[JPT][hapmap]
rs4903580	1.00[JPT][hapmap]
rs4903581	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs59010468	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6574374	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7149534	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155063	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap]
rs7156032	1.00[CHB][hapmap]
rs7156671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8010520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012548	0.81[AMR][1000 genomes]
rs8017215	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8018509	0.95[ASN][1000 genomes]
rs9323643	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041985	chr14:77877421-77936969	Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10149037	TMED8	cis	cerebellum	SCAN
rs10149037	ESRRB	cis	cerebellum	SCAN
rs10149037	RBM25	cis	cerebellum	SCAN
rs10149037	AHSA1	cis	cerebellum	SCAN
rs10149037	ZDHHC22	cis	cerebellum	SCAN
rs10149037	DPF3	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77891600-77923200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:77894200-77923000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:77896200-77923200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:77901800-77923000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:77908200-77921600	Weak transcription	K562	blood
6	chr14:77909800-77921800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr14:77909800-77921800	Weak transcription	Stomach Mucosa	stomach
8	chr14:77909800-77923200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:77915600-77922800	Weak transcription	Small Intestine	intestine
10	chr14:77915800-77923000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:77916000-77922600	Weak transcription	Hela-S3	cervix
12	chr14:77916000-77923200	Weak transcription	Aorta	Aorta
13	chr14:77916200-77923200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:77916200-77923400	Weak transcription	Pancreas	Pancrea
15	chr14:77916400-77923200	Weak transcription	Esophagus	oesophagus
16	chr14:77916600-77921600	Weak transcription	Fetal Brain Female	brain
17	chr14:77916600-77922800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr14:77916600-77922800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:77916800-77922600	Weak transcription	Fetal Heart	heart
20	chr14:77916800-77922800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr14:77916800-77922800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr14:77917000-77922800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:77917400-77922800	Weak transcription	Fetal Brain Male	brain
24	chr14:77917600-77922800	Weak transcription	Brain Anterior Caudate	brain
25	chr14:77917800-77922800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr14:77917800-77923000	Weak transcription	Psoas Muscle	Psoas
27	chr14:77918000-77922200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr14:77918200-77922800	Weak transcription	HMEC	breast
29	chr14:77918200-77923200	Weak transcription	Gastric	stomach
30	chr14:77918200-77923400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:77918400-77922000	Weak transcription	Brain Substantia Nigra	brain
32	chr14:77918400-77922200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr14:77918400-77922800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr14:77918400-77922800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:77918400-77922800	Weak transcription	NHDF-Ad	bronchial
36	chr14:77918400-77923200	Weak transcription	Lung	lung
37	chr14:77919400-77922800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr14:77919600-77922800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr14:77919600-77923400	Weak transcription	Spleen	Spleen
40	chr14:77919800-77921400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr14:77919800-77921600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:77919800-77921800	Weak transcription	GM12878-XiMat	blood
43	chr14:77919800-77921800	Weak transcription	HepG2	liver
44	chr14:77919800-77922000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr14:77919800-77922000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr14:77919800-77922200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:77919800-77922400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:77919800-77922600	Weak transcription	Brain Hippocampus Middle	brain
49	chr14:77919800-77922800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr14:77919800-77922800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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