Variant report

Variant	rs7950626
Chromosome Location	chr11:94276661-94276662
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	MAX	chr11:94276463-94278246	HCT-116	colon:	n/a	chr11:94276987-94276997
2	RELA	chr11:94276144-94277715	GM19193	blood:	n/a	chr11:94276320-94276329 chr11:94276320-94276329
3	POLR2A	chr11:94276324-94278276	GM19193	blood:	n/a	n/a
4	POLR2A	chr11:94276618-94277929	K562	blood:	n/a	n/a
5	TBL1XR1	chr11:94276542-94276859	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:94276533-94279695	HL-60	blood:	n/a	n/a
7	SIN3A	chr11:94276651-94278975	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:94276650-94278012	GM12892	blood:	n/a	n/a
9	TBP	chr11:94276422-94277646	GM12878	blood:	n/a	n/a
10	E2F6	chr11:94276644-94277741	A549	lung:	n/a	chr11:94277003-94277014 chr11:94277092-94277102
11	RELA	chr11:94276139-94277472	GM19099	blood:	n/a	chr11:94276320-94276329 chr11:94276320-94276329
12	PML	chr11:94276586-94277678	GM12878	blood:	n/a	n/a
13	MAX	chr11:94276554-94277920	A549	lung:	n/a	chr11:94276987-94276997
14	POLR2A	chr11:94276155-94277714	GM12891	blood:	n/a	n/a
15	RELA	chr11:94276170-94276993	GM12878	blood:	n/a	chr11:94276320-94276329 chr11:94276320-94276329
16	BHLHE40	chr11:94276557-94277735	K562	blood:	n/a	chr11:94276897-94276913
17	RELA	chr11:94276175-94277787	GM18951	blood:	n/a	chr11:94276320-94276329 chr11:94276320-94276329
18	KAP1	chr11:94276639-94277737	HEK293	kidney:	n/a	n/a
19	POLR2A	chr11:94276588-94279458	NB4	blood:	n/a	n/a
20	POLR2A	chr11:94276074-94277866	GM12878	blood:	n/a	n/a
21	GTF2F1	chr11:94276659-94277526	K562	blood:	n/a	n/a
22	POLR2A	chr11:94276339-94277866	PANC-1	pancreas:	n/a	n/a
23	MAX	chr11:94276446-94279542	NB4	blood:	n/a	chr11:94276987-94276997
24	NRF1	chr11:94276530-94276713	GM12878	blood:	n/a	n/a
25	MAX	chr11:94276652-94277827	SK-N-SH	brain:	n/a	chr11:94276987-94276997
26	MAX	chr11:94276655-94277862	A549	lung:	n/a	chr11:94276987-94276997
27	POLR2A	chr11:94276052-94281337	HL-60	blood:	n/a	n/a
28	SETDB1	chr11:94276566-94277038	U2OS	brain:	n/a	n/a
29	HCFC1	chr11:94276424-94277821	Hela-S3	cervix:	n/a	n/a
30	MYC	chr11:94276506-94279586	NB4	blood:	n/a	chr11:94276987-94276997
31	TBL1XR1	chr11:94276576-94277135	K562	blood:	n/a	n/a
32	POLR2A	chr11:94276231-94277776	PANC-1	pancreas:	n/a	n/a
33	MAZ	chr11:94276597-94278354	IMR90	lung:	n/a	chr11:94276987-94276997
34	MXI1	chr11:94276357-94279219	IMR90	lung:	n/a	n/a
35	POLR2A	chr11:94276616-94277973	GM12878	blood:	n/a	n/a
36	SMC3	chr11:94276563-94277661	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:94276417-94277936	GM19099	blood:	n/a	n/a
38	RCOR1	chr11:94276437-94277688	GM12878	blood:	n/a	n/a
39	RELA	chr11:94276103-94277920	GM12891	blood:	n/a	chr11:94276320-94276329 chr11:94276320-94276329
40	POLR2A	chr11:94276640-94277851	HUVEC	blood vessel:	n/a	n/a
41	MXI1	chr11:94276603-94278002	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:94273988..94276726-chr11:94311479..94314894,4	K562	blood:
2	chr11:94225466..94228271-chr11:94275709..94278301,3	K562	blood:
3	chr11:94226771..94229140-chr11:94275887..94279295,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRE11A-3	chr11:94276131-94277949	NONHSAT023724
2	lnc-MRE11A-3	chr11:94275325-94277016	NONHSAT023723

Variant related genes	Relation type
PIWIL4	TF binding region
FUT4	TF binding region
ENSG00000168876	Chromatin interaction
ENSG00000020922	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10741490	0.94[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.89[LWK][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10831239	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11020832	0.96[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11020851	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs1257380	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs591584	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs6483346	0.94[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7926082	0.96[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7926234	0.80[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs7927312	0.96[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7927463	0.96[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7929056	0.96[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7946385	0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7946916	0.86[EUR][1000 genomes]
rs9919636	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7950626	MED17	cis	cerebellum	SCAN
rs7950626	MED17	cis	parietal	SCAN
rs7950626	C11orf54	cis	cerebellum	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94271200-94276800	Weak transcription	HMEC	breast
2	chr11:94272600-94276800	Weak transcription	Small Intestine	intestine
3	chr11:94275400-94276800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:94276200-94276800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:94276200-94276800	Enhancers	Primary B cells from peripheral blood	blood
6	chr11:94276200-94277000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr11:94276200-94277000	Flanking Active TSS	Dnd41	blood
8	chr11:94276200-94277000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr11:94276200-94277200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr11:94276200-94277800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr11:94276400-94276800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:94276400-94276800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:94276400-94276800	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr11:94276400-94276800	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr11:94276400-94276800	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr11:94276400-94276800	Flanking Active TSS	Colon Smooth Muscle	Colon
17	chr11:94276400-94276800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr11:94276400-94276800	Flanking Active TSS	Fetal Intestine Large	intestine
19	chr11:94276400-94276800	Flanking Active TSS	Fetal Intestine Small	intestine
20	chr11:94276400-94276800	Flanking Active TSS	Fetal Kidney	kidney
21	chr11:94276400-94276800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr11:94276400-94276800	Flanking Active TSS	Fetal Lung	lung
23	chr11:94276400-94276800	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr11:94276400-94277000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
25	chr11:94276400-94277000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
26	chr11:94276400-94277000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr11:94276400-94277000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
28	chr11:94276400-94277000	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr11:94276400-94277000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:94276400-94277000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:94276400-94277000	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr11:94276400-94277000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr11:94276400-94277000	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr11:94276400-94277000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr11:94276400-94277000	Flanking Active TSS	GM12878-XiMat	blood
36	chr11:94276400-94277200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr11:94276400-94277200	Flanking Active TSS	Colonic Mucosa	Colon
38	chr11:94276400-94277600	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr11:94276400-94279200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr11:94276400-94279200	Active TSS	Brain Substantia Nigra	brain
41	chr11:94276400-94279600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:94276400-94280000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr11:94276600-94276800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:94276600-94276800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:94276600-94276800	Enhancers	H9 Cell Line	embryonic stem cell
46	chr11:94276600-94276800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:94276600-94276800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
48	chr11:94276600-94276800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:94276600-94276800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:94276600-94276800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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