Variant report

Variant	rs544536317
Chromosome Location	chr22:32807257-32807258
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	POLR2A	chr22:32807246-32808452	HepG2	liver:	n/a	n/a
2	MXI1	chr22:32807144-32808972	SK-N-SH	brain:	n/a	n/a
3	TBP	chr22:32807253-32807397	GM12878	blood:	n/a	n/a
4	SIN3A	chr22:32807065-32808475	H1-hESC	embryonic stem cell:	n/a	n/a
5	TCF7L2	chr22:32807027-32808862	HEK293	kidney:	n/a	chr22:32808175-32808189 chr22:32807213-32807220
6	MXI1	chr22:32807254-32808641	IMR90	lung:	n/a	n/a

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
ENSG00000100225	Chromatin interaction
ENSG00000100220	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	chr22:32794200-32807400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:32804200-32807600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:32804600-32807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:32806000-32807400	Enhancers	Spleen	Spleen
5	chr22:32806200-32807400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr22:32806200-32807400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr22:32806200-32807400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr22:32806200-32807400	Flanking Active TSS	Colon Smooth Muscle	Colon
9	chr22:32806200-32807400	Enhancers	Small Intestine	intestine
10	chr22:32806200-32807400	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr22:32806200-32807600	Flanking Active TSS	Brain Substantia Nigra	brain
12	chr22:32806200-32807600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr22:32806200-32807800	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr22:32806400-32807400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr22:32806400-32807400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr22:32806400-32807400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr22:32806400-32807600	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr22:32806400-32807800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr22:32806400-32808600	Active TSS	Colonic Mucosa	Colon
20	chr22:32806400-32808600	Active TSS	Fetal Kidney	kidney
21	chr22:32806400-32808800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr22:32806600-32807400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr22:32806600-32807400	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr22:32806600-32807400	Flanking Active TSS	HMEC	breast
25	chr22:32806600-32807600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr22:32806600-32807600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr22:32806600-32807600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr22:32806600-32807600	Flanking Active TSS	Liver	Liver
29	chr22:32806600-32807600	Flanking Active TSS	Fetal Brain Male	brain
30	chr22:32806600-32807600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr22:32806600-32807600	Flanking Active TSS	Dnd41	blood
32	chr22:32806600-32807600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr22:32806600-32807800	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr22:32806600-32807800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr22:32806600-32808400	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr22:32806600-32808600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr22:32806600-32809000	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr22:32806800-32807400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr22:32806800-32807400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr22:32806800-32807400	Enhancers	Esophagus	oesophagus
41	chr22:32806800-32807400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr22:32806800-32807400	Flanking Active TSS	Hela-S3	cervix
43	chr22:32806800-32807400	Flanking Active TSS	NHLF	lung
44	chr22:32806800-32807600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr22:32806800-32807600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr22:32806800-32807600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr22:32806800-32807600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr22:32806800-32807600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr22:32806800-32807600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr22:32806800-32807600	Flanking Active TSS	Brain Anterior Caudate	brain

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