Variant report

Variant	rs1149611
Chromosome Location	chr11:76495879-76495880
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	MXI1	chr11:76492909-76496222	IMR90	lung:	n/a	chr11:76495006-76495021
2	BCL3	chr11:76494951-76496284	A549	lung:	n/a	chr11:76495048-76495061 chr11:76494952-76494965
3	CTCF	chr11:76495840-76495990	HAc	cerebellar:	n/a	n/a
4	JUND	chr11:76493957-76495942	A549	lung:	n/a	chr11:76494953-76494962 chr11:76495700-76495708 chr11:76495792-76495801 chr11:76495793-76495802 chr11:76495794-76495803 chr11:76495791-76495800
5	BHLHE40	chr11:76495430-76496251	K562	blood:	n/a	n/a
6	REST	chr11:76495837-76496121	A549	lung:	n/a	n/a
7	MAX	chr11:76493694-76496071	HCT-116	colon:	n/a	chr11:76495789-76495799 chr11:76494160-76494170 chr11:76494949-76494959 chr11:76494703-76494719
8	ATF3	chr11:76495657-76495926	K562	blood:	n/a	n/a
9	ZMIZ1	chr11:76495436-76496153	K562	blood:	n/a	n/a
10	EP300	chr11:76495669-76495940	K562	blood:	n/a	n/a
11	CBX3	chr11:76495018-76496040	K562	blood:	n/a	n/a
12	RAD21	chr11:76494721-76496172	IMR90	lung:	n/a	n/a
13	SIN3AK20	chr11:76495734-76496313	A549	lung:	n/a	n/a
14	KAP1	chr11:76495364-76495990	HEK293	kidney:	n/a	n/a
15	POLR2A	chr11:76495833-76496185	A549	lung:	n/a	n/a
16	SP1	chr11:76493694-76496200	A549	lung:	n/a	chr11:76494942-76494954 chr11:76495795-76495804 chr11:76494161-76494173 chr11:76494943-76494957 chr11:76495410-76495424 chr11:76495070-76495084 chr11:76494107-76494119 chr11:76494942-76494954 chr11:76495069-76495081 chr11:76494951-76494965 chr11:76495373-76495382 chr11:76494561-76494570 chr11:76493913-76493925 chr11:76494943-76494953 chr11:76494559-76494571 chr11:76495372-76495381 chr11:76494559-76494571 chr11:76494161-76494173 chr11:76494561-76494570 chr11:76494943-76494953 chr11:76494560-76494570 chr11:76494107-76494119 chr11:76495374-76495387 chr11:76495071-76495080 chr11:76494560-76494569 chr11:76494108-76494117 chr11:76494104-76494118 chr11:76494560-76494570 chr11:76493915-76493924 chr11:76495371-76495383 chr11:76494943-76494952 chr11:76494162-76494171 chr11:76494464-76494473 chr11:76494944-76494953 chr11:76494110-76494124 chr11:76494566-76494575 chr11:76494115-76494124
17	TBL1XR1	chr11:76495658-76495953	K562	blood:	n/a	n/a
18	BCL3	chr11:76495697-76498146	A549	lung:	n/a	chr11:76497573-76497581
19	MAX	chr11:76495408-76495923	SK-N-SH	brain:	n/a	chr11:76495789-76495799
20	MAFK	chr11:76495671-76496041	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr11:76491728-76497876	HepG2	liver:	n/a	n/a
22	TAF1	chr11:76493296-76495927	A549	lung:	n/a	n/a
23	POLR2A	chr11:76493898-76495921	K562	blood:	n/a	n/a
24	JUND	chr11:76495519-76495983	K562	blood:	n/a	chr11:76495700-76495708 chr11:76495792-76495801 chr11:76495793-76495802 chr11:76495794-76495803 chr11:76495791-76495800
25	HCFC1	chr11:76492743-76496293	Hela-S3	cervix:	n/a	n/a
26	YY1	chr11:76495305-76495921	K562	blood:	n/a	chr11:76495448-76495462
27	SIN3A	chr11:76493853-76495951	H1-hESC	embryonic stem cell:	n/a	chr11:76495474-76495487 chr11:76495137-76495146 chr11:76495775-76495786 chr11:76495668-76495677 chr11:76494753-76494766 chr11:76495161-76495172
28	MAX	chr11:76493713-76495995	A549	lung:	n/a	chr11:76495789-76495799 chr11:76494160-76494170 chr11:76494949-76494959 chr11:76494703-76494719
29	REST	chr11:76495433-76496003	MCF-7	breast:	n/a	chr11:76495766-76495779
30	RCOR1	chr11:76495146-76496055	K562	blood:	n/a	n/a
31	MYC	chr11:76495485-76496222	K562	blood:	n/a	chr11:76495789-76495799
32	CHD1	chr11:76493293-76496432	IMR90	lung:	n/a	chr11:76494165-76494175
33	MAX	chr11:76491870-76500240	A549	lung:	n/a	chr11:76495789-76495799 chr11:76494160-76494170 chr11:76494949-76494959 chr11:76499004-76499014 chr11:76494703-76494719 chr11:76500087-76500096
34	ETS1	chr11:76495426-76496500	A549	lung:	n/a	chr11:76495789-76495800 chr11:76495792-76495803 chr11:76495791-76495802 chr11:76495794-76495805
35	RCOR1	chr11:76493287-76496988	IMR90	lung:	n/a	n/a
36	TCF7L2	chr11:76495355-76496209	PANC-1	pancreas:	n/a	chr11:76496075-76496084 chr11:76496073-76496087 chr11:76495719-76495733 chr11:76496076-76496085 chr11:76496072-76496088 chr11:76496076-76496086 chr11:76496072-76496088 chr11:76495719-76495733
37	SP1	chr11:76493781-76496241	A549	lung:	n/a	chr11:76494942-76494954 chr11:76495795-76495804 chr11:76494161-76494173 chr11:76494943-76494957 chr11:76495410-76495424 chr11:76495070-76495084 chr11:76494107-76494119 chr11:76494942-76494954 chr11:76495069-76495081 chr11:76494951-76494965 chr11:76495373-76495382 chr11:76494561-76494570 chr11:76493913-76493925 chr11:76494943-76494953 chr11:76494559-76494571 chr11:76495372-76495381 chr11:76494559-76494571 chr11:76494161-76494173 chr11:76494561-76494570 chr11:76494943-76494953 chr11:76494560-76494570 chr11:76494107-76494119 chr11:76495374-76495387 chr11:76495071-76495080 chr11:76494560-76494569 chr11:76494108-76494117 chr11:76494104-76494118 chr11:76494560-76494570 chr11:76493915-76493924 chr11:76495371-76495383 chr11:76494943-76494952 chr11:76494162-76494171 chr11:76494464-76494473 chr11:76494944-76494953 chr11:76494110-76494124 chr11:76494566-76494575 chr11:76494115-76494124
38	POLR2A	chr11:76493341-76496087	Hela-S3	cervix:	n/a	n/a
39	TAL1	chr11:76495727-76495940	K562	blood:	n/a	n/a
40	MAX	chr11:76493836-76495983	K562	blood:	n/a	chr11:76495789-76495799 chr11:76494160-76494170 chr11:76494949-76494959 chr11:76494703-76494719
41	POLR2A	chr11:76493850-76496215	A549	lung:	n/a	n/a
42	ELF1	chr11:76495833-76496708	A549	lung:	n/a	n/a
43	RAD21	chr11:76495516-76495902	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr11:76493270-76497083	IMR90	lung:	n/a	n/a
45	GTF2F1	chr11:76495402-76496038	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr11:76495740-76495890	BJ	skin:	n/a	n/a
47	POLR2A	chr11:76493694-76496145	H1-hESC	embryonic stem cell:	n/a	n/a
48	TBP	chr11:76495546-76496012	K562	blood:	n/a	n/a
49	REST	chr11:76495413-76495916	K562	blood:	n/a	chr11:76495766-76495779
50	POLR2A	chr11:76492348-76496118	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:76444941..76446826-chr11:76495647..76497317,2	K562	blood:
2	chr11:76495102..76495960-chr6:28303473..28304442,2	Hela-S3	cervix:
3	chr11:76493164..76499691-chr11:76510608..76517041,14	MCF-7	breast:
4	chr11:76494290..76496487-chr11:76570623..76573983,3	K562	blood:
5	chr11:76494634..76496487-chr11:76571954..76573983,2	K562	blood:
6	chr11:76494201..76496333-chr22:21271104..21273342,2	MCF-7	breast:
7	chr11:76495179..76497030-chr13:37572998..37574971,2	MCF-7	breast:
8	chr11:76492689..76500449-chr11:76507700..76515545,17	K562	blood:

Variant related genes	Relation type
ENSG00000255100	TF binding region
ENSG00000261578	Chromatin interaction
ENSG00000120699	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000099942	Chromatin interaction
ENSG00000120697	Chromatin interaction
ENSG00000078124	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1149595	0.84[ASW][hapmap];0.93[CEU][hapmap];0.90[CHB][hapmap];0.87[GIH][hapmap];0.88[MEX][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1149602	0.95[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];0.80[MEX][hapmap];0.82[ASN][1000 genomes]
rs1149603	0.95[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.88[MEX][hapmap];0.82[ASN][1000 genomes]
rs1149613	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1149620	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs11546727	0.85[YRI][hapmap]
rs1224953	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1224954	0.95[CHB][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap];0.86[ASN][1000 genomes]
rs876361	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897931	chr11:76489673-76540708	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1149611	SNORD15B	cis	cerebellum	SCAN
rs1149611	RP11-672A2.1	cis	Adipose Subcutaneous	GTEx
rs1149611	RP11-21L23.4	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76492600-76496400	Active TSS	Rectal Smooth Muscle	rectum
2	chr11:76493200-76496000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:76493200-76496000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr11:76493200-76496000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:76493200-76496000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:76493200-76496000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:76493200-76496000	Active TSS	Stomach Mucosa	stomach
8	chr11:76493200-76496200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr11:76493200-76496200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr11:76493200-76496200	Active TSS	Fetal Kidney	kidney
11	chr11:76493200-76496400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr11:76493400-76496000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:76493400-76496000	Active TSS	Psoas Muscle	Psoas
14	chr11:76493400-76496000	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr11:76493400-76496000	Active TSS	HSMMtube	muscle
16	chr11:76493600-76496000	Active TSS	H1 Cell Line	embryonic stem cell
17	chr11:76493600-76496000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:76493600-76496000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:76493600-76496000	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr11:76493600-76496000	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr11:76493600-76496000	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr11:76493600-76496000	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr11:76493600-76496000	Active TSS	Aorta	Aorta
24	chr11:76493600-76496000	Active TSS	Brain Cingulate Gyrus	brain
25	chr11:76493600-76496000	Active TSS	Colonic Mucosa	Colon
26	chr11:76493600-76496000	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr11:76493600-76496000	Active TSS	NHDF-Ad	bronchial
28	chr11:76493600-76496200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:76493600-76496200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:76493600-76496200	Active TSS	Esophagus	oesophagus
31	chr11:76493600-76496600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr11:76493800-76496000	Active TSS	Brain Anterior Caudate	brain
33	chr11:76493800-76496000	Active TSS	Left Ventricle	heart
34	chr11:76493800-76496000	Active TSS	Ovary	ovary
35	chr11:76493800-76496000	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr11:76494000-76496000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:76494000-76496800	Active TSS	Gastric	stomach
38	chr11:76494200-76496000	Active TSS	Liver	Liver
39	chr11:76494400-76496000	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr11:76494400-76496400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
41	chr11:76495000-76496000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr11:76495000-76496000	Flanking Active TSS	Dnd41	blood
43	chr11:76495000-76496200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr11:76495000-76496400	Flanking Active TSS	Placenta	Placenta
45	chr11:76495000-76498000	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr11:76495200-76496200	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr11:76495400-76496000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:76495400-76496000	Enhancers	Fetal Brain Male	brain
49	chr11:76495400-76496000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
50	chr11:76495400-76496200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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