Variant report

Variant	rs975363
Chromosome Location	chr11:93258095-93258096
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	MAFK	chr11:93256713-93258487	GM12878	blood:	n/a	chr11:93257158-93257173 chr11:93256904-93256919
2	RUNX3	chr11:93258034-93258473	GM12878	blood:	n/a	n/a
3	RUNX3	chr11:93258019-93258463	GM12878	blood:	n/a	n/a
4	RCOR1	chr11:93256981-93258157	GM12878	blood:	n/a	n/a
5	EBF1	chr11:93258057-93258334	GM12878	blood:	n/a	n/a

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: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10831054	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12419415	0.86[AMR][1000 genomes]
rs12421788	0.86[AMR][1000 genomes]
rs12422180	0.98[ASN][1000 genomes]
rs12792233	0.83[AMR][1000 genomes]
rs4753466	0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93235600-93258800	Weak transcription	Small Intestine	intestine
2	chr11:93238400-93259000	Weak transcription	Fetal Lung	lung
3	chr11:93248000-93261800	Weak transcription	Fetal Stomach	stomach
4	chr11:93249000-93261600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr11:93251000-93258200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:93251000-93261400	Weak transcription	Fetal Brain Male	brain
7	chr11:93251000-93261600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:93251000-93261600	Weak transcription	Aorta	Aorta
9	chr11:93252000-93266800	Enhancers	Fetal Thymus	thymus
10	chr11:93252200-93259000	Enhancers	Liver	Liver
11	chr11:93252200-93260800	Enhancers	Dnd41	blood
12	chr11:93252600-93259800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:93253000-93258800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:93253800-93266200	Weak transcription	Fetal Brain Female	brain
15	chr11:93254800-93258200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:93255000-93258200	Weak transcription	Primary T cells from cord blood	blood
17	chr11:93255000-93259200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:93255000-93263600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:93255000-93274600	Weak transcription	Hela-S3	cervix
20	chr11:93255600-93262200	Weak transcription	Brain Germinal Matrix	brain
21	chr11:93255800-93258200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:93255800-93261600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:93255800-93262000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:93255800-93263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:93256000-93258200	Weak transcription	Brain Substantia Nigra	brain
26	chr11:93256000-93262200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:93256200-93258400	Enhancers	Spleen	Spleen
28	chr11:93256200-93263800	Enhancers	Primary B cells from peripheral blood	blood
29	chr11:93256200-93266000	Enhancers	Primary T cells fromperipheralblood	blood
30	chr11:93256400-93266600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:93256600-93259000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr11:93256600-93259400	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr11:93256800-93259200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:93256800-93259800	Enhancers	Primary B cells from cord blood	blood
35	chr11:93256800-93261000	Flanking Active TSS	GM12878-XiMat	blood
36	chr11:93257000-93261000	Enhancers	Thymus	Thymus
37	chr11:93257200-93259800	Enhancers	HSMMtube	muscle
38	chr11:93257200-93260400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr11:93257200-93264800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:93257400-93258400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr11:93257400-93258600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:93257400-93259000	Enhancers	Stomach Smooth Muscle	stomach
43	chr11:93257400-93259200	Enhancers	Adipose Nuclei	Adipose
44	chr11:93257400-93259400	Enhancers	Colonic Mucosa	Colon
45	chr11:93257400-93260400	Enhancers	Left Ventricle	heart
46	chr11:93257400-93260600	Enhancers	Fetal Intestine Large	intestine
47	chr11:93257400-93260800	Enhancers	Primary hematopoietic stem cells	blood
48	chr11:93257400-93264000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr11:93257400-93264800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr11:93257400-93266600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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