Variant report

Variant	rs544684048
Chromosome Location	chr2:73286710-73286711
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	POLR2A	chr2:73286172-73286972	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73284849..73288387-chr2:73297041..73300553,5	K562	blood:

Variant related genes	Relation type
SFXN5	TF binding region
ENSG00000144040	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv2636937	chr2:73285914-73287515	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2237523	chr2:73286589-73287240	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3457898	chr2:73286641-73287152	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3457899	chr2:73286669-73287122	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3457895	chr2:73286688-73287072	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73249400-73290000	Weak transcription	HUVEC	blood vessel
2	chr2:73249600-73290000	Weak transcription	NHLF	lung
3	chr2:73256800-73290000	Weak transcription	HSMM	muscle
4	chr2:73259200-73291200	Weak transcription	Small Intestine	intestine
5	chr2:73262800-73290600	Weak transcription	NHEK	skin
6	chr2:73264200-73290600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:73267800-73289400	Weak transcription	K562	blood
8	chr2:73268600-73289400	Weak transcription	Right Ventricle	heart
9	chr2:73272600-73291200	Weak transcription	Fetal Heart	heart
10	chr2:73275800-73297000	Weak transcription	Pancreas	Pancrea
11	chr2:73277800-73290400	Weak transcription	HMEC	breast
12	chr2:73277800-73290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:73277800-73291200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:73281200-73289800	Weak transcription	NHDF-Ad	bronchial
15	chr2:73284200-73287000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:73284200-73290000	Weak transcription	Hela-S3	cervix
17	chr2:73284600-73286800	Strong transcription	HepG2	liver
18	chr2:73284600-73290000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:73284600-73290600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:73284600-73296600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:73284800-73290200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:73284800-73296400	Weak transcription	Fetal Kidney	kidney
23	chr2:73285000-73289200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:73285000-73289400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:73285000-73289400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:73285000-73289600	Weak transcription	Fetal Lung	lung
27	chr2:73285000-73289800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:73285000-73290000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:73285000-73290000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:73285000-73290600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:73285000-73290600	Weak transcription	HSMMtube	muscle
32	chr2:73285000-73290800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:73285000-73291200	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:73285000-73291200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr2:73285000-73291200	Weak transcription	Lung	lung
36	chr2:73285000-73291200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr2:73285000-73291200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr2:73285000-73295600	Weak transcription	Primary B cells from cord blood	blood
39	chr2:73285000-73295800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:73285000-73296000	Weak transcription	Adipose Nuclei	Adipose
41	chr2:73285000-73296000	Weak transcription	Gastric	stomach
42	chr2:73285000-73296000	Weak transcription	Thymus	Thymus
43	chr2:73285000-73296600	Weak transcription	Placenta	Placenta
44	chr2:73285000-73296600	Weak transcription	Ovary	ovary
45	chr2:73285200-73289600	Weak transcription	NH-A	brain
46	chr2:73285200-73290000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:73285200-73290000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:73285200-73290600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr2:73285200-73290600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:73285200-73290800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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