Variant report

Variant	rs947998
Chromosome Location	chr11:76383806-76383807
allele	G/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	TCF3	chr11:76383693-76384010	GM12878	blood:	n/a	chr11:76383912-76383925 chr11:76383908-76383922
2	POU2F2	chr11:76383633-76384246	GM12891	blood:	n/a	n/a
3	BCLAF1	chr11:76383419-76384152	GM12878	blood:	n/a	chr11:76383801-76383810
4	EBF1	chr11:76383533-76384347	GM12878	blood:	n/a	n/a
5	ZEB1	chr11:76383597-76384174	GM12878	blood:	n/a	n/a
6	RELA	chr11:76383419-76384254	GM19099	blood:	n/a	n/a
7	MTA3	chr11:76383197-76384286	GM12878	blood:	n/a	n/a
8	TBL1XR1	chr11:76383511-76384242	GM12878	blood:	n/a	n/a
9	MAX	chr11:76383561-76384462	GM12878	blood:	n/a	chr11:76383748-76383758
10	PAX5	chr11:76383483-76384274	GM12878	blood:	n/a	chr11:76383896-76383913 chr11:76383894-76383912 chr11:76383895-76383914
11	SMC3	chr11:76383746-76384318	GM12878	blood:	n/a	n/a
12	RELA	chr11:76383325-76386133	GM12891	blood:	n/a	n/a
13	TAF1	chr11:76383529-76383841	GM12891	blood:	n/a	n/a
14	BCL11A	chr11:76383689-76384113	GM12878	blood:	n/a	chr11:76383801-76383810
15	NFIC	chr11:76383573-76384129	GM12878	blood:	n/a	n/a
16	TAF1	chr11:76383487-76383871	GM12891	blood:	n/a	n/a
17	RCOR1	chr11:76383593-76385202	GM12878	blood:	n/a	n/a
18	ELF1	chr11:76383595-76384289	GM12878	blood:	n/a	n/a
19	EBF1	chr11:76383444-76386539	GM12878	blood:	n/a	chr11:76385771-76385780 chr11:76385769-76385780 chr11:76385771-76385781 chr11:76385769-76385782
20	NFATC1	chr11:76383555-76384362	GM12878	blood:	n/a	n/a
21	CEBPB	chr11:76383745-76384040	GM12878	blood:	n/a	n/a
22	RUNX3	chr11:76383215-76384394	GM12878	blood:	n/a	n/a
23	YY1	chr11:76383540-76384359	GM12878	blood:	n/a	chr11:76383799-76383810 chr11:76383802-76383811
24	EGR1	chr11:76383637-76383965	GM12878	blood:	n/a	chr11:76383801-76383811 chr11:76383747-76383757 chr11:76383788-76383802
25	STAT5A	chr11:76383276-76384524	GM12878	blood:	n/a	chr11:76383750-76383762 chr11:76383673-76383685 chr11:76383797-76383809
26	PAX5	chr11:76383586-76384079	GM12891	blood:	n/a	chr11:76383896-76383913 chr11:76383894-76383912 chr11:76383895-76383914
27	TAF1	chr11:76383565-76383908	GM12892	blood:	n/a	n/a
28	ELK1	chr11:76383636-76384056	GM12878	blood:	n/a	n/a
29	MEF2A	chr11:76383514-76384221	GM12878	blood:	n/a	n/a
30	PAX5	chr11:76383480-76384197	GM12878	blood:	n/a	chr11:76383896-76383913 chr11:76383894-76383912 chr11:76383895-76383914
31	BHLHE40	chr11:76383575-76384899	GM12878	blood:	n/a	n/a
32	MTA3	chr11:76383416-76386137	GM12878	blood:	n/a	n/a
33	RELA	chr11:76383465-76384465	GM19193	blood:	n/a	n/a
34	BCL3	chr11:76383570-76384264	GM12878	blood:	n/a	chr11:76383801-76383810
35	PAX5	chr11:76383369-76384327	GM12878	blood:	n/a	chr11:76383896-76383913 chr11:76383894-76383912 chr11:76383895-76383914
36	RELA	chr11:76383536-76385267	GM18505	blood:	n/a	n/a
37	PAX5	chr11:76383483-76384079	GM12891	blood:	n/a	chr11:76383896-76383913 chr11:76383894-76383912 chr11:76383895-76383914
38	MEF2A	chr11:76383616-76384116	GM12878	blood:	n/a	n/a
39	STAT1	chr11:76383685-76384138	GM12878	blood:	n/a	chr11:76383750-76383762 chr11:76383797-76383809
40	EBF1	chr11:76383629-76384111	GM12878	blood:	n/a	n/a
41	STAT5A	chr11:76383627-76384464	GM12878	blood:	n/a	chr11:76383750-76383762 chr11:76383673-76383685 chr11:76383797-76383809
42	BCLAF1	chr11:76383520-76384144	GM12878	blood:	n/a	chr11:76383801-76383810
43	FOXM1	chr11:76383466-76384330	GM12878	blood:	n/a	n/a
44	YY1	chr11:76383606-76384278	GM12892	blood:	n/a	chr11:76383799-76383810 chr11:76383802-76383811
45	RELA	chr11:76383503-76385320	GM10847	blood:	n/a	n/a
46	PML	chr11:76383242-76384369	GM12878	blood:	n/a	n/a
47	TCF12	chr11:76383679-76384144	GM12878	blood:	n/a	n/a
48	MAZ	chr11:76383357-76384322	GM12878	blood:	n/a	chr11:76383748-76383758
49	EP300	chr11:76383637-76384342	GM12878	blood:	n/a	chr11:76384152-76384162
50	ETS1	chr11:76383665-76384088	GM12878	blood:	n/a	chr11:76383802-76383813

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76377677..76380472-chr11:76382073..76384375,3	K562	blood:
2	chr11:76374882..76378954-chr11:76379483..76384269,6	K562	blood:

Variant related genes	Relation type
ENSG00000254975	TF binding region
LRRC32	TF binding region
ENSG00000137507	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10899251	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11236851	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11606717	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7342189	1.00[CEU][hapmap];0.93[GIH][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043912	chr11:76301316-76439095	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1039451	chr11:76301316-76440221	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1810781	chr11:76311021-76464814	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv555448	chr11:76354115-76383806	Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1047069	chr11:76367686-76420813	Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76380800-76384000	Enhancers	Primary hematopoietic stem cells	blood
2	chr11:76381200-76384600	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr11:76381400-76384600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr11:76381600-76384400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
5	chr11:76381600-76385800	Enhancers	Spleen	Spleen
6	chr11:76381600-76387800	Weak transcription	Fetal Kidney	kidney
7	chr11:76381800-76384200	Enhancers	HUVEC	blood vessel
8	chr11:76382000-76384400	Enhancers	Lung	lung
9	chr11:76382200-76384000	Weak transcription	Small Intestine	intestine
10	chr11:76382200-76384200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr11:76382200-76384400	Enhancers	Liver	Liver
12	chr11:76382200-76384400	Enhancers	Left Ventricle	heart
13	chr11:76382200-76384400	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr11:76382400-76384000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr11:76382400-76384200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:76382400-76384200	Enhancers	Placenta	Placenta
17	chr11:76382400-76384400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:76382400-76384600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:76382400-76386000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:76382400-76386600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:76382400-76388200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:76382400-76388600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr11:76382600-76384400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:76382600-76384400	Enhancers	Colonic Mucosa	Colon
25	chr11:76382600-76384400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
26	chr11:76382600-76384600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:76382600-76384800	Enhancers	Fetal Stomach	stomach
28	chr11:76382600-76384800	Enhancers	Right Ventricle	heart
29	chr11:76382600-76385000	Enhancers	Adipose Nuclei	Adipose
30	chr11:76382600-76385800	Weak transcription	Colon Smooth Muscle	Colon
31	chr11:76382600-76386400	Enhancers	Primary B cells from peripheral blood	blood
32	chr11:76382600-76386800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr11:76382800-76384000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr11:76382800-76384200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
35	chr11:76382800-76384800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:76382800-76385000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
37	chr11:76383000-76384400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr11:76383000-76386000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr11:76383000-76386200	Flanking Active TSS	GM12878-XiMat	blood
40	chr11:76383200-76384400	Enhancers	Dnd41	blood
41	chr11:76383400-76384000	Enhancers	NHLF	lung
42	chr11:76383400-76384200	Weak transcription	Fetal Lung	lung
43	chr11:76383400-76384400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:76383400-76384400	Enhancers	Right Atrium	heart
45	chr11:76383400-76384400	Enhancers	Thymus	Thymus
46	chr11:76383400-76384800	Enhancers	Fetal Heart	heart
47	chr11:76383400-76386200	Enhancers	Fetal Thymus	thymus
48	chr11:76383400-76386600	Enhancers	Fetal Muscle Leg	muscle
49	chr11:76383600-76384000	Enhancers	Ovary	ovary
50	chr11:76383600-76384200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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