Variant report

Variant	rs9323519
Chromosome Location	chr14:69180411-69180412
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69179231..69184883-chr14:69249659..69253927,5	MCF-7	breast:
2	chr14:69170086..69173238-chr14:69180375..69182388,3	MCF-7	breast:
3	chr14:69171674..69175443-chr14:69177716..69181490,3	K562	blood:
4	chr14:69175661..69178437-chr14:69179324..69182008,2	K562	blood:
5	chr14:69177353..69180926-chr14:69182112..69186555,4	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1034485	0.80[AMR][1000 genomes]
rs168964	1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs168965	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17757282	1.00[JPT][hapmap]
rs194763	0.82[ASW][hapmap];1.00[JPT][hapmap]
rs194773	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs194776	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs194781	0.82[ASW][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs194782	0.82[ASW][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs381336	1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs387618	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs404539	0.80[AMR][1000 genomes]
rs407929	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs408608	1.00[ASN][1000 genomes]
rs409633	1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs412016	0.80[AMR][1000 genomes]
rs438354	1.00[YRI][hapmap]
rs440489	0.82[ASW][hapmap];0.86[GIH][hapmap]
rs444883	0.80[AMR][1000 genomes]
rs450420	1.00[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap]
rs6573856	1.00[JPT][hapmap]
rs735292	1.00[JPT][hapmap]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs9323519	MED6	cis	cerebellum	SCAN
rs9323519	FUT8	cis	parietal	SCAN
rs9323519	MPP5	cis	cerebellum	SCAN
rs9323519	FAM71D	cis	parietal	SCAN
rs9323519	ZFP36L1	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69173600-69194200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:69173600-69196400	Weak transcription	Right Ventricle	heart
3	chr14:69173800-69180600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:69173800-69180600	Weak transcription	NHEK	skin
5	chr14:69173800-69184200	Weak transcription	Ovary	ovary
6	chr14:69174000-69181600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr14:69174000-69181800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:69175000-69181600	Weak transcription	Adipose Nuclei	Adipose
9	chr14:69176000-69180800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:69176600-69189400	Weak transcription	Pancreas	Pancrea
11	chr14:69177200-69181000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr14:69177400-69181200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:69177400-69184200	Enhancers	Placenta	Placenta
14	chr14:69177600-69180800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr14:69177800-69180800	Enhancers	Primary T cells from cord blood	blood
16	chr14:69177800-69180800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr14:69177800-69184000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:69178000-69180600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr14:69178000-69181000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr14:69178000-69182000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr14:69178200-69180800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr14:69178200-69180800	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr14:69178400-69181000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr14:69178600-69183400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:69179000-69183600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr14:69179200-69181600	Weak transcription	Fetal Intestine Small	intestine
27	chr14:69179200-69181800	Weak transcription	Fetal Intestine Large	intestine
28	chr14:69179200-69183200	Weak transcription	Stomach Mucosa	stomach
29	chr14:69179400-69181000	Enhancers	Spleen	Spleen
30	chr14:69179600-69181000	Enhancers	Fetal Muscle Trunk	muscle
31	chr14:69179600-69182600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:69179800-69181000	Enhancers	Right Atrium	heart
33	chr14:69180000-69181600	Weak transcription	Fetal Thymus	thymus
34	chr14:69180000-69182600	Enhancers	K562	blood
35	chr14:69180000-69185200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:69180200-69181200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:69180200-69181800	Weak transcription	HepG2	liver
38	chr14:69180200-69185400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr14:69180400-69181000	Enhancers	Fetal Lung	lung
40	chr14:69180400-69182200	Enhancers	Fetal Muscle Leg	muscle

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