Variant report

Variant	rs537949999
Chromosome Location	chr2:32233662-32233663
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr2:32233257-32235605	HEK293-T-REx	kidney:	n/a	n/a
2	ZNF384	chr2:32233580-32233789	GM12878	blood:	n/a	n/a
3	CBX3	chr2:32233249-32233764	K562	blood:	n/a	n/a
4	RCOR1	chr2:32233484-32233809	K562	blood:	n/a	n/a
5	ZNF384	chr2:32233536-32233782	K562	blood:	n/a	n/a
6	FOXA1	chr2:32233639-32234511	HepG2	liver:	n/a	n/a
7	MXI1	chr2:32233583-32235366	IMR90	lung:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:32232898..32237970-chr2:32287390..32290443,5	K562	blood:
2	chr2:32233185..32238105-chr2:32388775..32395245,11	K562	blood:
3	chr2:32231133..32238127-chr2:32263164..32266706,7	MCF-7	breast:
4	chr2:32233242..32236257-chr2:32247330..32249765,3	MCF-7	breast:
5	chr2:32173570..32176188-chr2:32233280..32235054,2	K562	blood:
6	chr2:32233050..32238839-chr2:32262715..32266551,10	MCF-7	breast:
7	chr2:32158032..32160777-chr2:32231295..32234289,2	K562	blood:
8	chr2:32233309..32238481-chr2:32286150..32290599,7	MCF-7	breast:
9	chr2:32210208..32213123-chr2:32231743..32234482,2	K562	blood:
10	chr2:32231239..32234526-chr2:32234585..32239142,5	MCF-7	breast:
11	chr2:32232071..32233742-chr2:32268777..32271589,2	MCF-7	breast:
12	chr2:32233077..32237611-chr2:32388376..32395245,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271228	TF binding region
ENSG00000272716	Chromatin interaction
ENSG00000271228	Chromatin interaction
ENSG00000162961	Chromatin interaction
ENSG00000162959	Chromatin interaction
ENSG00000152683	Chromatin interaction
ENSG00000021574	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv3416925	chr2:32233648-32236796	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32191600-32234200	Weak transcription	Lung	lung
2	chr2:32206600-32234000	Weak transcription	Stomach Mucosa	stomach
3	chr2:32223400-32234400	Weak transcription	Spleen	Spleen
4	chr2:32225800-32234200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:32229200-32234200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:32229200-32234200	Weak transcription	Esophagus	oesophagus
7	chr2:32230000-32233800	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr2:32230000-32233800	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr2:32230400-32234000	Weak transcription	Psoas Muscle	Psoas
10	chr2:32230800-32234000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:32231000-32233800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:32231400-32233800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:32231400-32234000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:32231800-32234000	Enhancers	Primary B cells from peripheral blood	blood
15	chr2:32231800-32234000	Weak transcription	Ovary	ovary
16	chr2:32232000-32233800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr2:32232000-32234200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:32232000-32234200	Weak transcription	Pancreas	Pancrea
19	chr2:32232200-32233800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr2:32232200-32233800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:32232200-32233800	Enhancers	Brain Hippocampus Middle	brain
22	chr2:32232200-32233800	Enhancers	Fetal Brain Male	brain
23	chr2:32232200-32233800	Enhancers	Fetal Lung	lung
24	chr2:32232200-32234000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:32232800-32233800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:32233000-32233800	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr2:32233000-32233800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:32233000-32233800	Enhancers	Brain Angular Gyrus	brain
29	chr2:32233000-32233800	Enhancers	Colon Smooth Muscle	Colon
30	chr2:32233000-32234200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr2:32233000-32234400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:32233200-32233800	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr2:32233200-32233800	Active TSS	Brain Anterior Caudate	brain
34	chr2:32233200-32233800	Enhancers	Brain Cingulate Gyrus	brain
35	chr2:32233200-32233800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr2:32233200-32233800	Enhancers	Fetal Heart	heart
37	chr2:32233200-32233800	Enhancers	Rectal Smooth Muscle	rectum
38	chr2:32233200-32234000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:32233200-32234000	Enhancers	Placenta	Placenta
40	chr2:32233200-32234200	Flanking Active TSS	HUVEC	blood vessel
41	chr2:32233200-32234400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:32233200-32234400	Enhancers	Small Intestine	intestine
43	chr2:32233200-32234400	Flanking Active TSS	Dnd41	blood
44	chr2:32233200-32234400	Flanking Active TSS	Hela-S3	cervix
45	chr2:32233200-32234600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr2:32233200-32236200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:32233200-32236200	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr2:32233400-32233800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:32233400-32233800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:32233400-32233800	Active TSS	Brain Germinal Matrix	brain

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