Variant report

Variant	rs12538553
Chromosome Location	chr7:129326057-129326058
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:129324977..129326939-chr7:129364861..129366771,2	K562	blood:
2	chr7:129322267..129326346-chr7:129330373..129333494,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10225103	0.81[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes]
rs10227655	0.83[EUR][1000 genomes]
rs10239118	0.83[YRI][hapmap]
rs10244147	0.83[YRI][hapmap]
rs10267039	0.93[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10268267	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10271270	0.82[EUR][1000 genomes]
rs10275661	0.93[ASW][hapmap];0.81[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.91[YRI][hapmap];0.83[EUR][1000 genomes]
rs10277673	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10278897	0.93[ASW][hapmap];0.81[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.91[YRI][hapmap];0.83[EUR][1000 genomes]
rs10500120	0.80[ASW][hapmap];0.83[YRI][hapmap]
rs11763880	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11773536	0.85[JPT][hapmap]
rs12666356	0.85[JPT][hapmap]
rs12669389	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs13438321	1.00[ASW][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2402962	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs2402970	0.93[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2402976	0.95[YRI][hapmap]
rs28805656	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34300097	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4469397	0.88[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.88[MKK][hapmap];0.91[YRI][hapmap]
rs4504577	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6949152	0.83[GIH][hapmap]
rs6962005	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6964297	0.93[ASW][hapmap];0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6978860	0.93[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73721770	0.92[EUR][1000 genomes]
rs7783235	0.84[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7787121	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs7790595	0.87[EUR][1000 genomes]
rs7806603	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12538553	KLF14	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129283800-129331600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:129297800-129349800	Weak transcription	Small Intestine	intestine
3	chr7:129301000-129330200	Weak transcription	Gastric	stomach
4	chr7:129302000-129331800	Weak transcription	Esophagus	oesophagus
5	chr7:129305000-129338200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:129307200-129352000	Weak transcription	NHLF	lung
7	chr7:129311400-129352200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:129313000-129330200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:129314400-129330200	Weak transcription	Right Ventricle	heart
10	chr7:129314600-129329800	Weak transcription	Spleen	Spleen
11	chr7:129314800-129330200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:129314800-129351200	Weak transcription	Pancreas	Pancrea
13	chr7:129315000-129331400	Weak transcription	Colonic Mucosa	Colon
14	chr7:129315200-129329200	Weak transcription	NHEK	skin
15	chr7:129315200-129330200	Weak transcription	Brain Angular Gyrus	brain
16	chr7:129315200-129330200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:129315200-129341800	Weak transcription	NH-A	brain
18	chr7:129315400-129331600	Weak transcription	HSMM	muscle
19	chr7:129315400-129357000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:129315600-129330200	Weak transcription	Osteobl	bone
21	chr7:129315600-129331600	Weak transcription	Brain Anterior Caudate	brain
22	chr7:129315600-129331600	Weak transcription	HSMMtube	muscle
23	chr7:129315600-129373600	Weak transcription	Psoas Muscle	Psoas
24	chr7:129316000-129330000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr7:129316000-129330200	Weak transcription	Brain Hippocampus Middle	brain
26	chr7:129316000-129331400	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:129316000-129331600	Weak transcription	GM12878-XiMat	blood
28	chr7:129316200-129329200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:129316200-129329400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:129316200-129330000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:129316200-129330200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr7:129316200-129330200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:129316400-129329000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:129316400-129329400	Weak transcription	Fetal Intestine Large	intestine
35	chr7:129316400-129330000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:129316400-129330200	Weak transcription	Fetal Brain Female	brain
37	chr7:129316400-129331400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr7:129316400-129350200	Weak transcription	Brain Germinal Matrix	brain
39	chr7:129316400-129357200	Weak transcription	Fetal Brain Male	brain
40	chr7:129316600-129329400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:129316600-129330200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:129317200-129329800	Weak transcription	Fetal Intestine Small	intestine
43	chr7:129317200-129329800	Weak transcription	Ovary	ovary
44	chr7:129317600-129328200	Weak transcription	Fetal Heart	heart
45	chr7:129317600-129329400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:129317600-129331600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:129317600-129338400	Weak transcription	K562	blood
48	chr7:129317800-129329200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:129317800-129329400	Weak transcription	Left Ventricle	heart
50	chr7:129317800-129329400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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