Variant report

Variant	rs72903424
Chromosome Location	chr2:73318323-73318324
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	RCOR1	chr2:73318309-73318731	HepG2	liver:	n/a	n/a
2	RFX5	chr2:73318250-73318678	HepG2	liver:	n/a	n/a
3	FOSL2	chr2:73318303-73318752	HepG2	liver:	n/a	n/a
4	TEAD4	chr2:73318271-73318570	H1-hESC	embryonic stem cell:	n/a	n/a
5	HNF4A	chr2:73318316-73318766	HepG2	liver:	n/a	chr2:73318542-73318557 chr2:73318543-73318558 chr2:73318543-73318558 chr2:73318543-73318558
6	HNF4A	chr2:73318256-73318762	HepG2	liver:	n/a	chr2:73318542-73318557 chr2:73318543-73318558 chr2:73318543-73318558 chr2:73318543-73318558
7	FOXA1	chr2:73318280-73318801	HepG2	liver:	n/a	n/a
8	EP300	chr2:73318280-73318721	HepG2	liver:	n/a	n/a
9	SMC3	chr2:73318226-73318679	HepG2	liver:	n/a	n/a
10	HNF4G	chr2:73318251-73318712	HepG2	liver:	n/a	chr2:73318541-73318556 chr2:73318543-73318558 chr2:73318543-73318558 chr2:73318543-73318558
11	MYBL2	chr2:73318219-73318844	HepG2	liver:	n/a	n/a
12	HNF4A	chr2:73318316-73318775	HepG2	liver:	n/a	chr2:73318542-73318557 chr2:73318543-73318558 chr2:73318543-73318558 chr2:73318543-73318558
13	TEAD4	chr2:73318314-73318630	HepG2	liver:	n/a	n/a
14	TEAD4	chr2:73318107-73318835	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73317548..73319576-chr2:73341568..73344564,2	MCF-7	breast:

Variant related genes	Relation type
RAB11FIP5	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11890653	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57143379	1.00[EUR][1000 genomes]
rs72920422	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1006801	chr2:73305056-73431711	Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73299400-73318400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:73299600-73319400	Weak transcription	K562	blood
3	chr2:73300000-73319200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:73303000-73328600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:73303200-73320600	Weak transcription	Psoas Muscle	Psoas
6	chr2:73303400-73320000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:73309200-73319400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:73313000-73319000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:73313200-73319000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:73313200-73320000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:73313200-73327200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr2:73315200-73319000	Enhancers	Fetal Heart	heart
13	chr2:73315400-73318400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:73315400-73319000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:73315600-73318600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:73315600-73319600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:73315600-73330400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:73315600-73338000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:73315800-73318600	Enhancers	HMEC	breast
20	chr2:73315800-73319000	Weak transcription	Brain Anterior Caudate	brain
21	chr2:73315800-73319800	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:73315800-73320000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:73316000-73318400	Weak transcription	Brain Angular Gyrus	brain
24	chr2:73316000-73318400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:73316000-73318800	Enhancers	NHDF-Ad	bronchial
26	chr2:73316000-73319600	Enhancers	HSMMtube	muscle
27	chr2:73316000-73320600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:73316000-73321000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:73316000-73326600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:73316200-73318600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:73316200-73319000	Weak transcription	Colonic Mucosa	Colon
32	chr2:73316200-73320200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:73316200-73320600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:73316200-73320800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr2:73316200-73322000	Enhancers	Right Ventricle	heart
36	chr2:73316200-73330400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:73316200-73338400	Weak transcription	Brain Germinal Matrix	brain
38	chr2:73316400-73318400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:73316400-73318400	Enhancers	Colon Smooth Muscle	Colon
40	chr2:73316400-73321000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:73316400-73321200	Enhancers	Pancreas	Pancrea
42	chr2:73316400-73321600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:73316400-73329000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:73316400-73329200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:73316400-73334400	Weak transcription	Fetal Brain Female	brain
46	chr2:73316400-73335000	Weak transcription	Brain Substantia Nigra	brain
47	chr2:73316600-73319400	Enhancers	HSMM	muscle
48	chr2:73316600-73322600	Enhancers	Placenta	Placenta
49	chr2:73316600-73323800	Weak transcription	Ovary	ovary
50	chr2:73316800-73319000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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