Variant report

Variant	rs5749693
Chromosome Location	chr22:34319286-34319287
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	SIN3A	chr22:34316642-34319989	H1-hESC	embryonic stem cell:	n/a	chr22:34318427-34318436 chr22:34316794-34316805 chr22:34317994-34318003
2	CTCF	chr22:34319220-34319370	HPF	lung:	n/a	n/a
3	CTCF	chr22:34319240-34319390	NHDF-neo	bronchial:	n/a	n/a
4	CTCF	chr22:34319240-34319390	AG09309	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:34319140..34320261-chr22:34501294..34502117,5	MCF-7	breast:

Variant related genes	Relation type
LARGE	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12628949	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2267320	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2267321	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2267325	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2267326	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3210587	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3343210	chr22:34236744-34404210	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34315200-34319400	Active TSS	Right Ventricle	heart
2	chr22:34315800-34319400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr22:34316000-34320000	Active TSS	Ovary	ovary
4	chr22:34317200-34319600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr22:34317400-34319400	Active TSS	Fetal Brain Male	brain
6	chr22:34318000-34319400	Bivalent/Poised TSS	Primary B cells from cord blood	blood
7	chr22:34318400-34319400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr22:34318400-34319400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr22:34318400-34319600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr22:34318600-34319400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:34318600-34319400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr22:34318600-34319400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr22:34318600-34319400	Flanking Active TSS	Fetal Brain Female	brain
14	chr22:34318600-34319400	Flanking Active TSS	NHEK	skin
15	chr22:34318600-34319600	Flanking Active TSS	Fetal Heart	heart
16	chr22:34318600-34319600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr22:34318600-34319800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr22:34318600-34319800	Flanking Active TSS	Liver	Liver
19	chr22:34318800-34319400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr22:34318800-34319400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr22:34318800-34319400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
22	chr22:34318800-34319400	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr22:34318800-34319400	Flanking Active TSS	Brain Substantia Nigra	brain
24	chr22:34318800-34319400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr22:34318800-34319400	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr22:34318800-34319400	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr22:34318800-34319400	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
28	chr22:34318800-34319400	Flanking Active TSS	HSMMtube	muscle
29	chr22:34318800-34319600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
30	chr22:34319000-34319400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:34319000-34319400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr22:34319000-34319400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr22:34319000-34319400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr22:34319000-34319400	Flanking Active TSS	Brain Angular Gyrus	brain
35	chr22:34319000-34319400	Enhancers	Colonic Mucosa	Colon
36	chr22:34319000-34319400	Enhancers	Pancreas	Pancrea
37	chr22:34319000-34319400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
38	chr22:34319000-34319600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
39	chr22:34319000-34319600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
40	chr22:34319000-34319600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
41	chr22:34319000-34319600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr22:34319000-34319600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr22:34319000-34319600	Enhancers	HSMM	muscle
44	chr22:34319000-34319800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr22:34319000-34319800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr22:34319000-34320000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
47	chr22:34319000-34320200	Enhancers	Left Ventricle	heart
48	chr22:34319000-34320200	Bivalent Enhancer	HepG2	liver
49	chr22:34319200-34319400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
50	chr22:34319200-34319400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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