Variant report

Variant	rs35982947
Chromosome Location	chr17:38214275-38214276
allele	A/C
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	GATA1	chr17:38213759-38214293	PBDE	blood:	n/a	chr17:38213793-38213803 chr17:38214030-38214040 chr17:38214033-38214042 chr17:38214029-38214045 chr17:38214033-38214040 chr17:38214170-38214179

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38211636..38214646-chr17:38294140..38297702,3	K562	blood:

Variant related genes	Relation type
MED24	TF binding region
THRA	TF binding region
ENSG00000108349	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10445310	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11078930	0.81[ASN][1000 genomes]
rs11078931	0.81[ASN][1000 genomes]
rs11078935	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11078936	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11654208	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11655655	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11658328	0.80[ASN][1000 genomes]
rs12309	0.85[ASN][1000 genomes]
rs12451547	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12451897	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12453334	0.81[ASN][1000 genomes]
rs12453341	0.87[ASN][1000 genomes]
rs12453343	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12601929	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12602514	0.81[ASN][1000 genomes]
rs12602854	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12939682	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2227319	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2227321	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2227333	0.87[ASN][1000 genomes]
rs2241244	0.80[ASN][1000 genomes]
rs2241245	0.80[ASN][1000 genomes]
rs2270401	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2302774	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2302777	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2305481	0.80[ASN][1000 genomes]
rs25645	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34003767	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34342173	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34453912	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34540281	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34648856	0.82[ASN][1000 genomes]
rs34933056	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35272691	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36071767	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3744245	0.82[ASN][1000 genomes]
rs3859187	0.80[ASN][1000 genomes]
rs3935281	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4072639	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66826786	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7502971	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8066582	0.80[ASN][1000 genomes]
rs8070444	0.80[ASN][1000 genomes]
rs8071037	0.80[ASN][1000 genomes]
rs8073254	0.80[ASN][1000 genomes]
rs9916158	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35982947	MED24	cis	Artery Tibial	GTEx
rs35982947	MED24	cis	Muscle Skeletal	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38211000-38217400	Weak transcription	Gastric	stomach
2	chr17:38211200-38214400	Weak transcription	Fetal Thymus	thymus
3	chr17:38211200-38215000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr17:38211200-38217200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:38211200-38217200	Weak transcription	Esophagus	oesophagus
6	chr17:38211200-38217200	Weak transcription	Pancreas	Pancrea
7	chr17:38211200-38217600	Weak transcription	Colonic Mucosa	Colon
8	chr17:38211200-38218600	Weak transcription	Left Ventricle	heart
9	chr17:38211200-38218600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr17:38211400-38214400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr17:38211400-38214400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr17:38211400-38214400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:38211400-38214400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr17:38211400-38214400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr17:38211400-38214400	Weak transcription	Fetal Lung	lung
16	chr17:38211400-38214400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr17:38211400-38214400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr17:38211400-38214400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr17:38211400-38214400	Weak transcription	Stomach Mucosa	stomach
20	chr17:38211400-38214400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr17:38211400-38214400	Weak transcription	Dnd41	blood
22	chr17:38211400-38214400	Weak transcription	HUVEC	blood vessel
23	chr17:38211400-38214600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr17:38211400-38215600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr17:38211400-38216000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:38211400-38216200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr17:38211400-38217400	Weak transcription	Brain Anterior Caudate	brain
28	chr17:38211400-38217600	Weak transcription	Fetal Intestine Large	intestine
29	chr17:38211400-38218000	Weak transcription	Brain Hippocampus Middle	brain
30	chr17:38211400-38218200	Weak transcription	Primary T cells from cord blood	blood
31	chr17:38211400-38218200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr17:38211400-38218200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr17:38211400-38218200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:38211400-38218200	Weak transcription	Hela-S3	cervix
35	chr17:38211400-38218400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr17:38211400-38218400	Weak transcription	Brain Substantia Nigra	brain
37	chr17:38211400-38218400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr17:38211600-38214400	Weak transcription	NHLF	lung
39	chr17:38212400-38214800	Enhancers	Fetal Brain Female	brain
40	chr17:38212400-38215000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr17:38213000-38217200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr17:38213400-38216400	Weak transcription	Brain Germinal Matrix	brain
43	chr17:38213800-38214800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr17:38214000-38214400	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr17:38214000-38214600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr17:38214000-38214600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr17:38214000-38214600	Enhancers	Adipose Nuclei	Adipose
48	chr17:38214000-38214600	Enhancers	Spleen	Spleen
49	chr17:38214000-38214800	Enhancers	Fetal Brain Male	brain
50	chr17:38214000-38215400	Enhancers	Fetal Muscle Leg	muscle

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