Variant report

Variant	rs12562744
Chromosome Location	chr1:220967284-220967285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:220967166-220967609	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:220965572..220968372-chr1:220969216..220971838,2	MCF-7	breast:
2	chr1:220963256..220967868-chr1:220967973..220972005,4	MCF-7	breast:
3	chr1:220967013..220967681-chr1:220983585..220984130,2	K562	blood:
4	chr1:220958915..220961807-chr1:220964103..220968214,4	MCF-7	breast:

Variant related genes	Relation type
MARC1	TF binding region
ENSG00000186205	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12028745	0.82[CEU][hapmap]
rs1690716	0.86[CHD][hapmap]
rs3820354	0.83[CHD][hapmap];0.85[GIH][hapmap]
rs6682431	0.82[CEU][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap]
rs7537305	0.81[CHD][hapmap];0.85[GIH][hapmap]
rs868494	0.82[CEU][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap]
rs9970238	0.82[CEU][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12562744	MOSC2	cis	lymphoblastoid	seeQTL
rs12562744	C1orf115	cis	lymphoblastoid	seeQTL

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220961000-220970200	Weak transcription	Fetal Kidney	kidney
2	chr1:220961000-220971200	Weak transcription	Spleen	Spleen
3	chr1:220961000-220973400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:220961000-220976800	Weak transcription	Ovary	ovary
5	chr1:220961000-220978200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:220961000-220982200	Weak transcription	Brain Substantia Nigra	brain
7	chr1:220961200-220971200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:220961400-220970600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:220961400-220983800	Weak transcription	Esophagus	oesophagus
10	chr1:220961600-220969400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:220961600-220970000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:220961600-220970600	Weak transcription	Fetal Brain Female	brain
13	chr1:220961600-220971000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:220961600-220975000	Weak transcription	Brain Angular Gyrus	brain
15	chr1:220961600-220975200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:220961600-220983600	Weak transcription	Pancreas	Pancrea
17	chr1:220961800-220969600	Weak transcription	Stomach Mucosa	stomach
18	chr1:220961800-220969800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:220961800-220970000	Weak transcription	Fetal Stomach	stomach
20	chr1:220961800-220971600	Weak transcription	Brain Germinal Matrix	brain
21	chr1:220961800-220972000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:220961800-220974200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:220961800-220979800	Weak transcription	Right Atrium	heart
24	chr1:220961800-220981400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:220961800-220981600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr1:220961800-220983800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:220962000-220975000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:220962600-220969800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:220964000-220974000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:220964800-220970600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:220964800-220972000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:220964800-220978400	Weak transcription	Primary B cells from cord blood	blood
33	chr1:220965000-220968400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:220965000-220970000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:220965000-220972600	Weak transcription	Colonic Mucosa	Colon
36	chr1:220965000-220972600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr1:220965000-220980000	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:220965200-220968200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
39	chr1:220965200-220969600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:220965200-220970000	Weak transcription	Lung	lung
41	chr1:220965200-220971000	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:220965200-220971600	Weak transcription	Right Ventricle	heart
43	chr1:220965200-220979600	Weak transcription	Gastric	stomach
44	chr1:220965200-220985400	Weak transcription	Aorta	Aorta
45	chr1:220965400-220970000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:220965400-220970400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:220965400-220970800	Weak transcription	Fetal Brain Male	brain
48	chr1:220965400-220971200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:220965400-220971600	Weak transcription	Left Ventricle	heart
50	chr1:220965400-220972400	Weak transcription	Brain Anterior Caudate	brain

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