Variant report

Variant	rs10448274
Chromosome Location	chr9:100122847-100122848
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100115057..100118663-chr9:100121927..100124718,3	K562	blood:
2	chr9:100116722..100121269-chr9:100122839..100125546,6	K562	blood:
3	chr9:100121207..100122970-chr9:100126221..100128460,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197816	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10122063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10125198	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1020884	0.91[EUR][1000 genomes]
rs1020885	0.91[EUR][1000 genomes]
rs1037948	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1037950	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1037951	0.91[EUR][1000 genomes]
rs10435867	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10435868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10759527	0.85[CEU][hapmap]
rs10759624	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10759657	0.91[EUR][1000 genomes]
rs10817273	0.86[CEU][hapmap]
rs10817286	0.86[CEU][hapmap]
rs10817487	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10981280	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10981288	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10981296	0.89[YRI][hapmap]
rs10981329	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10981438	0.81[ASN][1000 genomes]
rs10981890	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10981919	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs10981931	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs11581	0.86[JPT][hapmap]
rs11791310	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12235305	0.81[ASN][1000 genomes]
rs13298346	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13299627	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1542506	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs1544203	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs1903635	0.81[JPT][hapmap];0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1947717	0.92[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2169456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2219664	0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2242187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2279114	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2306097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2493442	0.83[ASN][1000 genomes]
rs2493443	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2502644	0.88[JPT][hapmap];0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2615143	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs2615145	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs2795365	0.83[ASN][1000 genomes]
rs2795367	0.95[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs2818238	0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs2818239	0.82[ASN][1000 genomes]
rs2818243	0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs3214072	0.96[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs34955252	0.82[ASN][1000 genomes]
rs35609998	0.82[ASN][1000 genomes]
rs3747489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3747493	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3747496	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3802471	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4237189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4313271	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4366181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4523384	0.82[ASN][1000 genomes]
rs4523385	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4554595	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4742685	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4742689	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs4742690	0.91[EUR][1000 genomes]
rs4743072	0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4743076	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4743077	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4743084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4743087	0.96[CEU][hapmap]
rs4743088	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs6478095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6478131	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7020393	0.91[JPT][hapmap]
rs7042707	0.91[JPT][hapmap]
rs713066	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7470446	0.80[ASN][1000 genomes]
rs750674	0.96[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7856924	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7869536	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9696167	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10448274	ANKRD18CP	cis	Thyroid	GTEx
rs10448274	RP11-520B13.4	cis	Thyroid	GTEx
rs10448274	VN1R51P	cis	Thyroid	GTEx
rs10448274	RP11-520B13.4	cis	Esophagus Muscularis	GTEx
rs10448274	RP11-498P14.5	cis	lung	GTEx

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100070000-100131400	Weak transcription	Fetal Kidney	kidney
2	chr9:100077000-100140800	Weak transcription	Fetal Brain Male	brain
3	chr9:100080400-100126400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr9:100083800-100124000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:100086600-100132000	Weak transcription	Thymus	Thymus
6	chr9:100088000-100126200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr9:100088200-100127000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr9:100088600-100128600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:100088600-100132800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr9:100089200-100128200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr9:100090600-100133800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr9:100091600-100149200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr9:100099000-100132200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr9:100104400-100142000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr9:100104600-100128200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr9:100105400-100127600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr9:100105800-100128000	Weak transcription	Brain Substantia Nigra	brain
18	chr9:100106800-100128000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:100106800-100143200	Weak transcription	Liver	Liver
20	chr9:100107000-100131400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr9:100107200-100130200	Weak transcription	Fetal Lung	lung
22	chr9:100107200-100138400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr9:100108000-100148200	Weak transcription	Esophagus	oesophagus
24	chr9:100110200-100132200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr9:100112200-100124600	Weak transcription	Lung	lung
26	chr9:100113000-100123600	Weak transcription	Fetal Brain Female	brain
27	chr9:100114600-100124200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr9:100115400-100144600	Weak transcription	Hela-S3	cervix
29	chr9:100115600-100139200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr9:100115800-100125400	Weak transcription	Dnd41	blood
31	chr9:100116000-100127600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr9:100116200-100130800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:100116400-100130800	Strong transcription	Fetal Stomach	stomach
34	chr9:100116600-100129200	Strong transcription	Stomach Smooth Muscle	stomach
35	chr9:100116800-100123000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr9:100116800-100126000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr9:100117000-100123200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr9:100117000-100125600	Strong transcription	Ovary	ovary
39	chr9:100117400-100124000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr9:100117400-100132400	Weak transcription	Fetal Intestine Large	intestine
41	chr9:100117400-100145000	Weak transcription	Colon Smooth Muscle	Colon
42	chr9:100117600-100130000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr9:100117600-100146400	Weak transcription	Small Intestine	intestine
44	chr9:100118200-100132400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr9:100118200-100141600	Weak transcription	Primary T cells from cord blood	blood
46	chr9:100118400-100127800	Weak transcription	Pancreas	Pancrea
47	chr9:100118600-100126200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr9:100118800-100124600	Strong transcription	Spleen	Spleen
49	chr9:100119000-100130800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr9:100119400-100127200	Strong transcription	Fetal Intestine Small	intestine

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