Variant report

Variant	rs5994563
Chromosome Location	chr22:32807107-32807108
allele	A/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	WRNIP1	chr22:32807090-32807122	GM12878	blood:	n/a	n/a
2	POLR2A	chr22:32806729-32807121	GM12891	blood:	n/a	n/a
3	SIN3A	chr22:32807065-32808475	H1-hESC	embryonic stem cell:	n/a	n/a
4	TCF7L2	chr22:32807027-32808862	HEK293	kidney:	n/a	chr22:32808175-32808189 chr22:32807213-32807220

No.	Distal block	Cell Line	Cell type
1	chr22:32806505..32810377-chr22:32871743..32874140,3	K562	blood:
2	chr22:32802183..32805062-chr22:32805761..32809013,3	MCF-7	breast:
3	chr22:32806637..32808324-chr22:32870497..32872790,2	MCF-7	breast:
4	chr22:32801191..32803610-chr22:32806296..32808272,2	K562	blood:
5	chr22:32806622..32809672-chr22:32869373..32872144,4	MCF-7	breast:

Variant related genes	Relation type
RTCB	TF binding region
ENSG00000100220	Chromatin interaction
ENSG00000100225	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1066118	chr22:32779078-32815334	Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1055701	chr22:32806595-32845403	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32782800-32807200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:32794200-32807400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:32804200-32807600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:32804600-32807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:32806000-32807200	Enhancers	Pancreas	Pancrea
6	chr22:32806000-32807400	Enhancers	Spleen	Spleen
7	chr22:32806200-32807200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr22:32806200-32807200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr22:32806200-32807200	Flanking Active TSS	GM12878-XiMat	blood
10	chr22:32806200-32807400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr22:32806200-32807400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr22:32806200-32807400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr22:32806200-32807400	Flanking Active TSS	Colon Smooth Muscle	Colon
14	chr22:32806200-32807400	Enhancers	Small Intestine	intestine
15	chr22:32806200-32807400	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr22:32806200-32807600	Flanking Active TSS	Brain Substantia Nigra	brain
17	chr22:32806200-32807600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr22:32806200-32807800	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr22:32806400-32807200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr22:32806400-32807200	Flanking Active TSS	Brain Angular Gyrus	brain
21	chr22:32806400-32807200	Enhancers	Gastric	stomach
22	chr22:32806400-32807200	Flanking Active TSS	Rectal Smooth Muscle	rectum
23	chr22:32806400-32807400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr22:32806400-32807400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr22:32806400-32807400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr22:32806400-32807600	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr22:32806400-32807800	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr22:32806400-32808600	Active TSS	Colonic Mucosa	Colon
29	chr22:32806400-32808600	Active TSS	Fetal Kidney	kidney
30	chr22:32806400-32808800	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr22:32806600-32807200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr22:32806600-32807200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr22:32806600-32807200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr22:32806600-32807200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr22:32806600-32807200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr22:32806600-32807200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr22:32806600-32807200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr22:32806600-32807200	Flanking Active TSS	NHDF-Ad	bronchial
39	chr22:32806600-32807400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr22:32806600-32807400	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr22:32806600-32807400	Flanking Active TSS	HMEC	breast
42	chr22:32806600-32807600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr22:32806600-32807600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr22:32806600-32807600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr22:32806600-32807600	Flanking Active TSS	Liver	Liver
46	chr22:32806600-32807600	Flanking Active TSS	Fetal Brain Male	brain
47	chr22:32806600-32807600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr22:32806600-32807600	Flanking Active TSS	Dnd41	blood
49	chr22:32806600-32807600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr22:32806600-32807800	Flanking Active TSS	Primary T cells from cord blood	blood

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