Variant report

Variant	rs2847181
Chromosome Location	chr11:105883614-105883615
allele	C/T
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	FOS	chr11:105883559-105883858	MCF10A-Er-Src	breast:	n/a	chr11:105883689-105883700
2	FOSL2	chr11:105883302-105884074	SK-N-SH	brain:	n/a	n/a
3	CEBPB	chr11:105883458-105883883	IMR90	lung:	n/a	n/a
4	FOSL2	chr11:105883309-105883836	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr11:105883513-105883765	MCF10A-Er-Src	breast:	n/a	n/a
6	JUN	chr11:105883605-105883851	HepG2	liver:	n/a	chr11:105883724-105883737
7	JUND	chr11:105883554-105883924	HepG2	liver:	n/a	chr11:105883689-105883700
8	FOS	chr11:105883562-105883875	MCF10A-Er-Src	breast:	n/a	chr11:105883689-105883700
9	FOS	chr11:105883536-105883915	MCF10A-Er-Src	breast:	n/a	chr11:105883689-105883700
10	TCF12	chr11:105883206-105884008	SK-N-SH	brain:	n/a	n/a
11	STAT3	chr11:105883581-105883741	MCF10A-Er-Src	breast:	n/a	n/a
12	JUND	chr11:105883238-105884063	SK-N-SH	brain:	n/a	chr11:105883689-105883700
13	MEF2A	chr11:105883414-105884084	SK-N-SH	brain:	n/a	n/a
14	FOS	chr11:105883556-105883858	MCF10A-Er-Src	breast:	n/a	chr11:105883689-105883700
15	JUN	chr11:105883478-105883971	HUVEC	blood vessel:	n/a	chr11:105883724-105883737
16	MEF2A	chr11:105883558-105883894	K562	blood:	n/a	n/a
17	MEF2A	chr11:105883539-105883968	K562	blood:	n/a	n/a
18	PBX3	chr11:105883434-105884012	SK-N-SH	brain:	n/a	n/a
19	RAD21	chr11:105883513-105883799	SK-N-SH_RA	brain:	n/a	n/a
20	POLR2A	chr11:105883429-105883741	K562	blood:	n/a	n/a
21	JUN	chr11:105883473-105883841	K562	blood:	n/a	chr11:105883724-105883737
22	JUND	chr11:105883514-105883885	K562	blood:	n/a	chr11:105883689-105883700
23	TCF12	chr11:105883340-105884016	SK-N-SH	brain:	n/a	n/a
24	ATF3	chr11:105883493-105883819	K562	blood:	n/a	n/a
25	JUN	chr11:105883529-105883850	K562	blood:	n/a	chr11:105883724-105883737
26	MEF2A	chr11:105883294-105884135	SK-N-SH	brain:	n/a	n/a
27	ATF1	chr11:105883560-105883854	K562	blood:	n/a	n/a
28	JUN	chr11:105883272-105884096	K562	blood:	n/a	chr11:105883724-105883737
29	FOS	chr11:105883482-105883924	HUVEC	blood vessel:	n/a	chr11:105883689-105883700
30	POLR2A	chr11:105883329-105883875	SK-N-SH	brain:	n/a	n/a
31	TAL1	chr11:105883527-105883752	K562	blood:	n/a	n/a
32	GATA3	chr11:105883229-105883973	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:105880605..105882322-chr11:105882782..105885279,2	K562	blood:
2	chr11:105875586..105878320-chr11:105881792..105883720,2	K562	blood:

Variant related genes	Relation type
MSANTD4	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10895892	0.81[CEU][hapmap];0.90[CHB][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs10895893	0.82[ASN][1000 genomes]
rs10895896	0.80[ASN][1000 genomes]
rs10895898	0.81[CEU][hapmap];0.90[CHB][hapmap]
rs11226894	0.81[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs11226896	0.81[CEU][hapmap];0.95[CHB][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs12293460	0.88[ASN][1000 genomes]
rs1939810	0.86[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs1939816	0.80[ASN][1000 genomes]
rs1939817	0.80[ASN][1000 genomes]
rs2155344	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236663	0.81[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs2249950	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2564912	0.91[ASN][1000 genomes]
rs2564913	0.90[ASN][1000 genomes]
rs2846220	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2846221	0.90[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs3737347	0.89[CHB][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap]
rs7952626	0.81[CEU][hapmap];0.95[CHB][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2847181	GUCY1A2	cis	cerebellum	SCAN
rs2847181	C11orf70	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105864000-105891600	Weak transcription	Colonic Mucosa	Colon
2	chr11:105865000-105890400	Weak transcription	A549	lung
3	chr11:105865200-105891600	Weak transcription	Hela-S3	cervix
4	chr11:105871000-105892200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:105873000-105883800	Strong transcription	Dnd41	blood
6	chr11:105874600-105883800	Strong transcription	Primary T cells from cord blood	blood
7	chr11:105876600-105884000	Strong transcription	Fetal Thymus	thymus
8	chr11:105877000-105884400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr11:105877200-105886800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:105877600-105892400	Weak transcription	Spleen	Spleen
11	chr11:105877800-105892400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:105878600-105892400	Weak transcription	Stomach Mucosa	stomach
13	chr11:105880600-105891600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:105880800-105884600	Weak transcription	HepG2	liver
15	chr11:105880800-105888600	Weak transcription	Right Ventricle	heart
16	chr11:105880800-105891600	Weak transcription	Fetal Intestine Small	intestine
17	chr11:105880800-105892400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:105881400-105885600	Enhancers	Brain Substantia Nigra	brain
19	chr11:105881400-105887000	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:105881400-105892000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:105881600-105883800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:105881600-105884000	Enhancers	Brain Angular Gyrus	brain
23	chr11:105881600-105884400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:105881600-105884400	Enhancers	Brain Anterior Caudate	brain
25	chr11:105881600-105885000	Weak transcription	Fetal Brain Male	brain
26	chr11:105881600-105887000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr11:105881600-105887000	Weak transcription	Small Intestine	intestine
28	chr11:105881600-105888200	Enhancers	Brain Hippocampus Middle	brain
29	chr11:105881600-105889800	Weak transcription	NHEK	skin
30	chr11:105881600-105890200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:105881600-105890200	Weak transcription	Fetal Kidney	kidney
32	chr11:105881600-105890200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr11:105881600-105890800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr11:105881600-105891600	Weak transcription	Fetal Intestine Large	intestine
35	chr11:105881600-105891800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr11:105881600-105892000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:105881800-105883800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:105881800-105884000	Enhancers	Brain Germinal Matrix	brain
39	chr11:105881800-105884200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:105881800-105884600	Weak transcription	Liver	Liver
41	chr11:105881800-105886200	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr11:105881800-105887000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:105881800-105888600	Weak transcription	HMEC	breast
44	chr11:105881800-105889200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:105881800-105889200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr11:105881800-105891600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:105881800-105891800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr11:105881800-105892000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr11:105882000-105884000	Enhancers	NHDF-Ad	bronchial
50	chr11:105882000-105884200	Enhancers	Osteobl	bone

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