Variant report

Variant	rs6682431
Chromosome Location	chr1:220964537-220964538
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	chr1:220964285-220965711	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:220963256..220967868-chr1:220967973..220972005,4	MCF-7	breast:
2	chr1:220963259..220966041-chr1:220969331..220970964,2	K562	blood:
3	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: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11118601	1.00[CEU][hapmap];0.92[AMR][1000 genomes]
rs12028745	0.83[ASW][hapmap];1.00[CEU][hapmap]
rs12562744	0.82[CEU][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap]
rs1690716	0.97[CHD][hapmap]
rs3820354	0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[ASN][1000 genomes]
rs3820356	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57298117	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58327003	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58438675	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59234976	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6541159	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6683301	0.81[ASN][1000 genomes]
rs6701709	0.93[CHB][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72470566	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72470578	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs72470579	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72470580	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs72470582	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs7526347	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7537305	0.84[ASW][hapmap];0.85[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs868494	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9970238	1.00[CEU][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6682431	MOSC2	cis	lymphoblastoid	seeQTL
rs6682431	C1orf115	cis	lymphoblastoid	seeQTL

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220960600-220964800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr1:220960800-220965200	Weak transcription	Small Intestine	intestine
3	chr1:220961000-220964600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:220961000-220964600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:220961000-220964600	Weak transcription	Psoas Muscle	Psoas
6	chr1:220961000-220964600	Weak transcription	HMEC	breast
7	chr1:220961000-220964800	Weak transcription	Right Ventricle	heart
8	chr1:220961000-220964800	Weak transcription	HUVEC	blood vessel
9	chr1:220961000-220970200	Weak transcription	Fetal Kidney	kidney
10	chr1:220961000-220971200	Weak transcription	Spleen	Spleen
11	chr1:220961000-220973400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:220961000-220976800	Weak transcription	Ovary	ovary
13	chr1:220961000-220978200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:220961000-220982200	Weak transcription	Brain Substantia Nigra	brain
15	chr1:220961200-220964600	Weak transcription	Left Ventricle	heart
16	chr1:220961200-220964800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:220961200-220965000	Weak transcription	Brain Anterior Caudate	brain
18	chr1:220961200-220971200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:220961400-220970600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:220961400-220983800	Weak transcription	Esophagus	oesophagus
21	chr1:220961600-220965000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:220961600-220965000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:220961600-220965800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr1:220961600-220966600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:220961600-220969400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:220961600-220970000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:220961600-220970600	Weak transcription	Fetal Brain Female	brain
28	chr1:220961600-220971000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:220961600-220975000	Weak transcription	Brain Angular Gyrus	brain
30	chr1:220961600-220975200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:220961600-220983600	Weak transcription	Pancreas	Pancrea
32	chr1:220961800-220964600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:220961800-220964600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:220961800-220966000	Enhancers	Liver	Liver
35	chr1:220961800-220967000	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:220961800-220969600	Weak transcription	Stomach Mucosa	stomach
37	chr1:220961800-220969800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:220961800-220970000	Weak transcription	Fetal Stomach	stomach
39	chr1:220961800-220971600	Weak transcription	Brain Germinal Matrix	brain
40	chr1:220961800-220972000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:220961800-220974200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr1:220961800-220979800	Weak transcription	Right Atrium	heart
43	chr1:220961800-220981400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:220961800-220981600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:220961800-220983800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:220962000-220975000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:220962200-220964600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:220962600-220964600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr1:220962600-220964800	Weak transcription	Colon Smooth Muscle	Colon
50	chr1:220962600-220965600	Enhancers	Hela-S3	cervix

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