Variant report

Variant	rs975606
Chromosome Location	chr11:93259091-93259092
allele	C/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	MTA3	chr11:93258602-93260862	GM12878	blood:	n/a	n/a
2	IKZF1	chr11:93258745-93260241	GM12878	blood:	n/a	n/a
3	RUNX3	chr11:93258735-93260857	GM12878	blood:	n/a	n/a
4	JUND	chr11:93258906-93259217	K562	blood:	n/a	chr11:93259039-93259046 chr11:93259039-93259047
5	BHLHE40	chr11:93258823-93260678	GM12878	blood:	n/a	chr11:93260246-93260262
6	FOS	chr11:93259023-93259147	MCF10A-Er-Src	breast:	n/a	chr11:93259039-93259046 chr11:93259039-93259047
7	MAFK	chr11:93258971-93259171	HepG2	liver:	n/a	chr11:93259037-93259046 chr11:93259039-93259049
8	PML	chr11:93258637-93260716	GM12878	blood:	n/a	chr11:93259037-93259046
9	MAFF	chr11:93258885-93259149	K562	blood:	n/a	n/a
10	ATF2	chr11:93258703-93260799	GM12878	blood:	n/a	n/a
11	FOXM1	chr11:93258823-93260129	GM12878	blood:	n/a	n/a
12	EBF1	chr11:93258987-93260745	GM12878	blood:	n/a	chr11:93259380-93259391
13	NFATC1	chr11:93258798-93259404	GM12878	blood:	n/a	n/a
14	NFIC	chr11:93258744-93260146	GM12878	blood:	n/a	n/a
15	PAX5	chr11:93259072-93260542	GM12878	blood:	n/a	chr11:93259416-93259434
16	WRNIP1	chr11:93258707-93259322	GM12878	blood:	n/a	n/a
17	REST	chr11:93258871-93259202	PFSK-1	brain:	n/a	n/a
18	BATF	chr11:93258851-93259214	GM12878	blood:	n/a	chr11:93259036-93259046 chr11:93259035-93259046
19	ZNF384	chr11:93258896-93259988	GM12878	blood:	n/a	n/a
20	CEBPB	chr11:93258914-93259173	IMR90	lung:	n/a	n/a
21	RUNX3	chr11:93258732-93260827	GM12878	blood:	n/a	n/a
22	ELK1	chr11:93259077-93259416	GM12878	blood:	n/a	n/a
23	YY1	chr11:93258876-93259135	GM12878	blood:	n/a	n/a
24	BHLHE40	chr11:93258807-93259210	K562	blood:	n/a	n/a
25	MXI1	chr11:93258645-93259447	IMR90	lung:	n/a	n/a
26	REST	chr11:93258828-93259273	PFSK-1	brain:	n/a	n/a
27	BCLAF1	chr11:93258713-93260120	GM12878	blood:	n/a	n/a
28	MAFK	chr11:93258936-93259152	K562	blood:	n/a	chr11:93259037-93259046 chr11:93259039-93259049
29	EP300	chr11:93258843-93260664	GM12878	blood:	n/a	chr11:93259735-93259749 chr11:93259467-93259481
30	FOS	chr11:93259054-93259107	MCF10A-Er-Src	breast:	n/a	n/a
31	MAFK	chr11:93258917-93259284	IMR90	lung:	n/a	chr11:93259037-93259046 chr11:93259039-93259049
32	NFIC	chr11:93258725-93259991	GM12878	blood:	n/a	n/a
33	FOS	chr11:93258983-93259138	MCF10A-Er-Src	breast:	n/a	chr11:93259039-93259046 chr11:93259039-93259047

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93256846..93259343-chr11:93261721..93264520,2	K562	blood:
2	chr11:93257690..93261836-chr11:93263663..93269980,6	K562	blood:

Variant related genes	Relation type
SMCO4	TF binding region
ENSG00000234106	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10831054	0.83[AMR][1000 genomes]
rs12417512	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12419415	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12419851	0.83[JPT][hapmap];0.96[ASN][1000 genomes]
rs12421788	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12422180	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12792233	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs16919027	0.85[CHB][hapmap];0.84[JPT][hapmap];0.93[ASN][1000 genomes]
rs2305662	0.85[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2399672	0.85[CHB][hapmap];0.92[JPT][hapmap];0.98[ASN][1000 genomes]
rs3794005	0.85[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4753466	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs60912147	0.92[ASN][1000 genomes]
rs7935607	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs988225	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	esv2760208	chr11:93172673-93266594	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93248000-93261800	Weak transcription	Fetal Stomach	stomach
2	chr11:93249000-93261600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:93251000-93261400	Weak transcription	Fetal Brain Male	brain
4	chr11:93251000-93261600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:93251000-93261600	Weak transcription	Aorta	Aorta
6	chr11:93252000-93266800	Enhancers	Fetal Thymus	thymus
7	chr11:93252200-93260800	Enhancers	Dnd41	blood
8	chr11:93252600-93259800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:93253800-93266200	Weak transcription	Fetal Brain Female	brain
10	chr11:93255000-93259200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:93255000-93263600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:93255000-93274600	Weak transcription	Hela-S3	cervix
13	chr11:93255600-93262200	Weak transcription	Brain Germinal Matrix	brain
14	chr11:93255800-93261600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:93255800-93262000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:93255800-93263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:93256000-93262200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:93256200-93263800	Enhancers	Primary B cells from peripheral blood	blood
19	chr11:93256200-93266000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr11:93256400-93266600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:93256600-93259400	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr11:93256800-93259200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:93256800-93259800	Enhancers	Primary B cells from cord blood	blood
24	chr11:93256800-93261000	Flanking Active TSS	GM12878-XiMat	blood
25	chr11:93257000-93261000	Enhancers	Thymus	Thymus
26	chr11:93257200-93259800	Enhancers	HSMMtube	muscle
27	chr11:93257200-93260400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr11:93257200-93264800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:93257400-93259200	Enhancers	Adipose Nuclei	Adipose
30	chr11:93257400-93259400	Enhancers	Colonic Mucosa	Colon
31	chr11:93257400-93260400	Enhancers	Left Ventricle	heart
32	chr11:93257400-93260600	Enhancers	Fetal Intestine Large	intestine
33	chr11:93257400-93260800	Enhancers	Primary hematopoietic stem cells	blood
34	chr11:93257400-93264000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr11:93257400-93264800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr11:93257400-93266600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr11:93257600-93259200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:93257600-93260200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:93257600-93260600	Enhancers	Duodenum Mucosa	Duodenum
40	chr11:93257600-93260600	Enhancers	Fetal Intestine Small	intestine
41	chr11:93257600-93260600	Enhancers	Stomach Mucosa	stomach
42	chr11:93257600-93261000	Enhancers	Placenta	Placenta
43	chr11:93257600-93261000	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr11:93257600-93263000	Enhancers	HepG2	liver
45	chr11:93257600-93264000	Enhancers	Right Ventricle	heart
46	chr11:93257600-93264400	Enhancers	Fetal Muscle Leg	muscle
47	chr11:93257800-93260400	Enhancers	Pancreas	Pancrea
48	chr11:93257800-93260400	Enhancers	Right Atrium	heart
49	chr11:93257800-93261000	Enhancers	Psoas Muscle	Psoas
50	chr11:93257800-93261600	Enhancers	Skeletal Muscle Male	skeletal muscle

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