Variant report

Variant	rs72918780
Chromosome Location	chr2:54783438-54783439
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:54783226-54783543	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:54782583-54783520	HepG2	liver:	n/a	n/a
3	NFIC	chr2:54782162-54783469	HepG2	liver:	n/a	n/a
4	HEY1	chr2:54782308-54783686	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:54782355-54786484	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:54782394-54783807	HepG2	liver:	n/a	n/a
7	FOXA1	chr2:54783004-54783442	HepG2	liver:	n/a	chr2:54783232-54783247
8	POLR2A	chr2:54782528-54783621	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:54783397-54783641	HepG2	liver:	n/a	n/a
10	EBF1	chr2:54783357-54783568	GM12878	blood:	n/a	n/a
11	RCOR1	chr2:54783398-54783641	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:54197301..54199396-chr2:54783418..54785695,2	MCF-7	breast:
2	chr2:54783297..54785333-chr2:54809031..54810704,2	K562	blood:
3	chr2:54772020..54776106-chr2:54782775..54785505,4	K562	blood:
4	chr2:54754602..54758699-chr2:54783105..54787010,4	MCF-7	breast:
5	chr2:54782515..54784267-chr2:54820223..54822640,2	MCF-7	breast:
6	chr2:54782460..54784855-chr2:54875341..54877678,2	K562	blood:

No data

Variant related genes	Relation type
SPTBN1	TF binding region
ENSG00000237887	Chromatin interaction
ENSG00000234943	Chromatin interaction
ENSG00000068878	Chromatin interaction
ENSG00000170634	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57749522	1.00[AMR][1000 genomes]
rs72906419	1.00[AMR][1000 genomes]
rs72911566	1.00[AMR][1000 genomes]
rs72913549	1.00[AMR][1000 genomes]
rs72913551	1.00[AMR][1000 genomes]
rs72918739	1.00[AMR][1000 genomes]
rs72918782	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv2731	chr2:54745069-54790057	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54768200-54783800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:54773400-54784000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:54773400-54784000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:54777200-54783600	Weak transcription	Fetal Stomach	stomach
5	chr2:54777600-54783600	Weak transcription	Brain Germinal Matrix	brain
6	chr2:54777600-54784800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:54777600-54784800	Weak transcription	Aorta	Aorta
8	chr2:54777800-54784200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:54778000-54784200	Weak transcription	Fetal Brain Male	brain
10	chr2:54778600-54784000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:54778800-54784000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:54778800-54784000	Weak transcription	Primary B cells from cord blood	blood
13	chr2:54779000-54783600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:54779000-54783600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:54779000-54784000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr2:54779200-54783800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:54779200-54784000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:54779200-54784000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:54779200-54784200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:54779400-54784200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:54779400-54784200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:54779800-54784200	Enhancers	NHDF-Ad	bronchial
23	chr2:54779800-54784600	Enhancers	Right Ventricle	heart
24	chr2:54780200-54783800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:54780800-54784400	Enhancers	Primary T cells from cord blood	blood
26	chr2:54781000-54784600	Enhancers	Fetal Intestine Small	intestine
27	chr2:54781000-54784800	Enhancers	Right Atrium	heart
28	chr2:54781200-54784200	Weak transcription	K562	blood
29	chr2:54781200-54784600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr2:54781400-54783800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:54781400-54784400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:54781400-54784400	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr2:54781400-54784800	Enhancers	Left Ventricle	heart
34	chr2:54781600-54783600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:54781600-54784000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr2:54781600-54784000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:54781600-54784200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:54781800-54783600	Genic enhancers	Fetal Muscle Leg	muscle
39	chr2:54781800-54784600	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr2:54781800-54784600	Enhancers	Adipose Nuclei	Adipose
41	chr2:54781800-54784600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr2:54781800-54784600	Enhancers	Fetal Intestine Large	intestine
43	chr2:54781800-54784800	Enhancers	Brain Anterior Caudate	brain
44	chr2:54782000-54784200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:54782000-54784400	Enhancers	Colon Smooth Muscle	Colon
46	chr2:54782000-54784800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:54782000-54784800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:54782000-54784800	Weak transcription	Psoas Muscle	Psoas
49	chr2:54782200-54783600	Enhancers	Ovary	ovary
50	chr2:54782200-54784400	Enhancers	Duodenum Smooth Muscle	Duodenum

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