Variant report

Variant	rs72829648
Chromosome Location	chr2:112842808-112842809
allele	A/C
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	FOXA1	chr2:112842489-112843177	HepG2	liver:	n/a	n/a
2	CEBPB	chr2:112842653-112843107	HepG2	liver:	n/a	n/a
3	FOXA1	chr2:112842621-112843210	HepG2	liver:	n/a	n/a
4	FOXA1	chr2:112842549-112843246	HepG2	liver:	n/a	n/a
5	HNF4A	chr2:112842596-112843054	HepG2	liver:	n/a	chr2:112842840-112842855
6	TCF7L2	chr2:112842766-112843342	HepG2	liver:	n/a	n/a
7	MAFF	chr2:112842294-112842840	HepG2	liver:	n/a	chr2:112842459-112842477
8	EP300	chr2:112842689-112843005	HepG2	liver:	n/a	n/a
9	HNF4A	chr2:112842699-112843059	HepG2	liver:	n/a	chr2:112842840-112842855
10	BHLHE40	chr2:112842560-112843220	HepG2	liver:	n/a	n/a
11	HNF4G	chr2:112842644-112843114	HepG2	liver:	n/a	chr2:112842841-112842856
12	MYBL2	chr2:112842622-112843243	HepG2	liver:	n/a	n/a
13	EP300	chr2:112842560-112843142	HepG2	liver:	n/a	n/a
14	CEBPB	chr2:112842758-112842919	HepG2	liver:	n/a	n/a
15	NFIC	chr2:112842639-112843098	HepG2	liver:	n/a	n/a
16	FOXA2	chr2:112842519-112843250	HepG2	liver:	n/a	n/a
17	SP1	chr2:112842563-112843192	HepG2	liver:	n/a	n/a
18	HDAC2	chr2:112842649-112843072	HepG2	liver:	n/a	n/a
19	FOXA1	chr2:112842543-112843222	HepG2	liver:	n/a	n/a
20	RFX5	chr2:112842288-112842994	HepG2	liver:	n/a	n/a
21	BHLHE40	chr2:112842708-112843073	HepG2	liver:	n/a	n/a
22	YY1	chr2:112842595-112842992	HepG2	liver:	n/a	n/a
23	HNF4A	chr2:112842654-112842996	HepG2	liver:	n/a	chr2:112842840-112842855
24	TEAD4	chr2:112842649-112843181	HepG2	liver:	n/a	n/a
25	BHLHE40	chr2:112842793-112842990	K562	blood:	n/a	n/a
26	CEBPB	chr2:112842669-112843056	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:112820549..112822093-chr2:112840179..112842837,2	K562	blood:
2	chr2:112831943..112834066-chr2:112841080..112842997,2	MCF-7	breast:

Variant related genes	Relation type
TMEM87B	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12471463	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28579271	0.87[AFR][1000 genomes]
rs72829656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72829680	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3333591	chr2:112669320-112892618	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1002027	chr2:112679182-112861534	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112814200-112849800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:112814200-112859800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:112816600-112866200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr2:112816800-112871400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr2:112820400-112847000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:112821400-112849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:112822200-112854400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:112822800-112876800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:112823600-112844200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:112824200-112844000	Weak transcription	Fetal Brain Male	brain
11	chr2:112829600-112850400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:112829800-112844200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:112831000-112849600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:112831800-112844000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:112831800-112850800	Strong transcription	Placenta	Placenta
16	chr2:112832000-112866000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:112833600-112845200	Weak transcription	A549	lung
18	chr2:112833600-112855800	Weak transcription	Hela-S3	cervix
19	chr2:112833800-112844200	Strong transcription	GM12878-XiMat	blood
20	chr2:112833800-112849600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:112834200-112845200	Weak transcription	Stomach Mucosa	stomach
22	chr2:112834600-112844600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:112834600-112871200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr2:112834800-112849200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:112834800-112852200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr2:112835200-112844000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr2:112835200-112844200	Strong transcription	Primary B cells from cord blood	blood
28	chr2:112835200-112844800	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:112835200-112849000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:112835200-112851000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:112835200-112851000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:112835200-112852200	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr2:112835400-112844000	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:112835600-112850600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:112835800-112843400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:112835800-112849400	Strong transcription	HSMM	muscle
37	chr2:112835800-112883200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:112836000-112848400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:112836000-112874400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:112836400-112844000	Weak transcription	Right Ventricle	heart
41	chr2:112838000-112849200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:112838000-112850400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:112838200-112845600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
44	chr2:112838200-112846600	Strong transcription	HUVEC	blood vessel
45	chr2:112838200-112847600	Strong transcription	Primary hematopoietic stem cells	blood
46	chr2:112838200-112847600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
47	chr2:112838200-112847800	Strong transcription	HMEC	breast
48	chr2:112838200-112848200	Strong transcription	Osteobl	bone
49	chr2:112838200-112848600	Strong transcription	NH-A	brain
50	chr2:112838200-112851200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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