Variant report

Variant	rs2948080
Chromosome Location	chr3:20079489-20079490
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr3:20079123-20079490	MCF-7	breast:	n/a	n/a
2	RAD21	chr3:20079158-20079522	MCF-7	breast:	n/a	n/a
3	RAD21	chr3:20079083-20081084	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr3:20079340-20079490	RPTEC	kidney:	n/a	n/a
5	RAD21	chr3:20079090-20079580	HCT-116	colon:	n/a	n/a
6	CTCF	chr3:20079340-20079490	GM12869	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:20063995..20066056-chr3:20077383..20080079,2	K562	blood:
2	chr3:20079279..20082964-chr3:20226299..20229620,6	K562	blood:
3	chr3:19986921..19992254-chr3:20078952..20084327,16	K562	blood:
4	chr3:19979101..19981901-chr3:20077826..20080437,2	K562	blood:

No data

Variant related genes	Relation type
KAT2B	TF binding region
ENSG00000144566	Chromatin interaction
ENSG00000163576	Chromatin interaction
ENSG00000129810	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2929408	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825914	chr3:19549859-20137270	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	esv1833006	chr3:19562271-20389045	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv1833139	chr3:19579860-20121349	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1010613	chr3:19942032-20461486	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1826030	chr3:19972766-20170581	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv1825988	chr3:19976375-20102773	Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv1826830	chr3:19982972-20632072	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv997486	chr3:20006702-20113989	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	esv1829542	chr3:20009231-20384627	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv834627	chr3:20068115-20227975	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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 miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20056600-20080000	Weak transcription	Right Atrium	heart
2	chr3:20077200-20079800	Weak transcription	Liver	Liver
3	chr3:20077200-20080000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr3:20078800-20080000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr3:20078800-20080000	Enhancers	K562	blood
6	chr3:20078800-20080200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:20078800-20080400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr3:20079200-20079600	Enhancers	Stomach Smooth Muscle	stomach
9	chr3:20079200-20080000	Enhancers	Primary hematopoietic stem cells	blood
10	chr3:20079200-20080000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:20079200-20080200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr3:20079200-20080400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr3:20079400-20079600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:20079400-20080000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:20079400-20080000	Enhancers	Ovary	ovary
16	chr3:20079400-20080200	Enhancers	Primary B cells from cord blood	blood
17	chr3:20079400-20080200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr3:20079400-20080200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr3:20079400-20080200	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr3:20079400-20080200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:20079400-20080400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr3:20079400-20080400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr3:20079400-20080400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr3:20079400-20080400	Enhancers	Psoas Muscle	Psoas
25	chr3:20079400-20080600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:20079400-20081000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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