Variant report

Variant	rs17007981
Chromosome Location	chr1:220755159-220755160
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220749189..220751737-chr1:220755091..220757350,2	K562	blood:

rs_ID	r²[population]
rs12562165	1.00[JPT][hapmap]
rs12562172	1.00[JPT][hapmap]
rs12562686	0.82[JPT][hapmap]
rs12568872	1.00[JPT][hapmap]
rs12568969	0.82[JPT][hapmap]
rs17008285	0.82[JPT][hapmap]
rs17008287	1.00[JPT][hapmap]
rs17008290	0.82[JPT][hapmap]
rs17008302	1.00[JPT][hapmap]
rs17008319	0.82[JPT][hapmap]
rs1874119	0.82[JPT][hapmap]
rs1933881	0.82[JPT][hapmap]
rs3737297	1.00[GIH][hapmap]
rs45452391	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6663028	1.00[JPT][hapmap]
rs6675112	0.82[JPT][hapmap]
rs6675203	0.82[JPT][hapmap]
rs6678186	0.82[JPT][hapmap]
rs6685446	0.82[JPT][hapmap]
rs7516373	0.82[JPT][hapmap]
rs7522502	0.82[JPT][hapmap]
rs7530302	0.82[JPT][hapmap]
rs7533858	0.82[JPT][hapmap]

SNP	Gene	Cis/trans	Tissue	Source
rs17007981	MOSC2	Cis_1M	lymphoblastoid	RTeQTL
rs17007981	MOSC2	cis	lymphoblastoid	seeQTL
rs17007981	C1orf115	Cis_1M	lymphoblastoid	RTeQTL
rs17007981	ANO3	trans	lymphoblastoid	seeQTL
rs17007981	C1orf115	cis	lymphoblastoid	seeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220748000-220755600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:220748000-220762200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:220748200-220762200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:220748200-220769200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:220748400-220762400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:220748400-220767200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:220748400-220773200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:220748600-220769800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:220748800-220770400	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:220749000-220767000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:220749800-220799000	Weak transcription	Aorta	Aorta
12	chr1:220750000-220767000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:220750400-220767000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:220751000-220758600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:220751200-220755600	Weak transcription	Brain Germinal Matrix	brain
16	chr1:220751200-220763200	Weak transcription	Fetal Brain Female	brain
17	chr1:220751800-220762400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:220751800-220799000	Weak transcription	Fetal Stomach	stomach
19	chr1:220752400-220762800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:220752400-220772200	Weak transcription	Fetal Brain Male	brain
21	chr1:220752400-220775000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:220752600-220756600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:220752600-220762400	Weak transcription	Adipose Nuclei	Adipose
24	chr1:220752600-220764000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:220752600-220768800	Weak transcription	Esophagus	oesophagus
26	chr1:220752600-220808600	Weak transcription	Left Ventricle	heart
27	chr1:220752800-220756600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:220753000-220763200	Weak transcription	Fetal Heart	heart
29	chr1:220753200-220766400	Weak transcription	HMEC	breast
30	chr1:220753400-220756600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:220753400-220778400	Weak transcription	NHEK	skin
32	chr1:220753800-220762200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:220753800-220767000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:220754000-220759000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:220754800-220764000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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