Variant report

Variant	rs2615143
Chromosome Location	chr9:100054705-100054706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100053928..100055918-chr9:100059325..100061044,2	K562	blood:
2	chr9:100048229..100050188-chr9:100053793..100055688,2	MCF-7	breast:
3	chr9:100000136..100002167-chr9:100054201..100057002,2	K562	blood:

Variant related genes	Relation type
ENSG00000254483	Chromatin interaction
ENSG00000197816	Chromatin interaction
ENSG00000254876	Chromatin interaction
ENSG00000203279	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10122063	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs10125198	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1037948	0.83[ASN][1000 genomes]
rs10435867	0.86[ASN][1000 genomes]
rs10435868	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs10448274	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs10759624	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10817487	0.84[ASN][1000 genomes]
rs10981280	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs10981288	0.93[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.90[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs10981296	0.83[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs10981329	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs10981438	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10981890	0.87[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap]
rs11581	0.86[JPT][hapmap]
rs11791310	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs11998999	0.82[EUR][1000 genomes]
rs12004930	0.84[EUR][1000 genomes]
rs12005128	0.85[EUR][1000 genomes]
rs12235305	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13297670	0.82[EUR][1000 genomes]
rs13298346	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs13299627	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13301357	0.89[EUR][1000 genomes]
rs13302699	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1544203	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1903635	0.81[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1947717	0.86[ASW][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2169456	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2219664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242187	0.93[ASW][hapmap];0.95[CHB][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2279114	0.81[ASN][1000 genomes]
rs2306097	1.00[ASW][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs2493442	0.86[CHB][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2493443	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502644	0.86[CHB][hapmap];0.88[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615145	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2795365	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2795367	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2818238	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2818239	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2818243	0.93[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3214072	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34382632	0.83[EUR][1000 genomes]
rs34955252	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35609998	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3747489	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3747493	0.95[CHB][hapmap];0.80[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs3747496	1.00[ASW][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3802471	0.83[ASN][1000 genomes]
rs4237189	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4284138	0.87[EUR][1000 genomes]
rs4313271	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs4366181	0.93[ASW][hapmap];0.95[CHB][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4523384	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4523385	0.81[ASW][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]
rs4554595	0.85[ASN][1000 genomes]
rs4743072	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743076	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.84[ASN][1000 genomes]
rs4743077	0.93[ASW][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.85[ASN][1000 genomes]
rs4743084	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs55694850	0.82[EUR][1000 genomes]
rs6478095	1.00[ASW][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6478131	0.81[ASN][1000 genomes]
rs7020393	0.91[JPT][hapmap]
rs7042707	0.91[JPT][hapmap]
rs713066	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72747776	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7470446	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs750674	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7856924	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7859665	0.82[ASN][1000 genomes]
rs9696167	0.85[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2615143	HSD17B3	cis	parietal	SCAN
rs2615143	LOC57653	cis	parietal	SCAN
rs2615143	VN1R51P	cis	Thyroid	GTEx
rs2615143	ANKRD18CP	cis	Thyroid	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100035000-100059600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:100039200-100056400	Weak transcription	Small Intestine	intestine
3	chr9:100039600-100055000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr9:100039600-100055600	Weak transcription	NH-A	brain
5	chr9:100039800-100055600	Weak transcription	NHLF	lung
6	chr9:100040800-100055600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:100041400-100059600	Weak transcription	Fetal Brain Male	brain
8	chr9:100044200-100055000	Weak transcription	Psoas Muscle	Psoas
9	chr9:100046000-100055200	Weak transcription	K562	blood
10	chr9:100046000-100055400	Weak transcription	Fetal Heart	heart
11	chr9:100046200-100056400	Weak transcription	A549	lung
12	chr9:100046600-100069000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr9:100047800-100058000	Strong transcription	Primary T cells from cord blood	blood
14	chr9:100048000-100055600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:100048200-100054800	Weak transcription	HepG2	liver
16	chr9:100049000-100055000	Weak transcription	Placenta	Placenta
17	chr9:100049000-100057600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:100049000-100057600	Strong transcription	Liver	Liver
19	chr9:100049200-100054800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr9:100049200-100056000	Strong transcription	Stomach Smooth Muscle	stomach
21	chr9:100049600-100055400	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr9:100049600-100056600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr9:100049600-100057800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr9:100049600-100058600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:100049800-100055200	Strong transcription	Fetal Intestine Large	intestine
26	chr9:100050000-100054800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:100050000-100054800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr9:100050000-100054800	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr9:100050000-100055000	Strong transcription	Brain Anterior Caudate	brain
30	chr9:100050000-100055000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr9:100050000-100055400	Strong transcription	Brain Cingulate Gyrus	brain
32	chr9:100050000-100055400	Strong transcription	Fetal Stomach	stomach
33	chr9:100050000-100055600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:100050000-100056000	Strong transcription	Pancreas	Pancrea
35	chr9:100050000-100056400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr9:100050000-100057800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr9:100050400-100056600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr9:100050400-100058000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:100050600-100055200	Strong transcription	Thymus	Thymus
40	chr9:100050600-100058200	Strong transcription	Fetal Intestine Small	intestine
41	chr9:100051000-100054800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr9:100051000-100055200	Weak transcription	NHDF-Ad	bronchial
43	chr9:100051000-100056000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr9:100051200-100061000	Weak transcription	Colonic Mucosa	Colon
45	chr9:100051400-100055400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:100051400-100059400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr9:100051800-100054800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr9:100052200-100059000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr9:100052400-100054800	Strong transcription	Primary B cells from peripheral blood	blood
50	chr9:100052600-100054800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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