Variant report

Variant	rs548503673
Chromosome Location	chr16:48643272-48643273
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:48642624..48645570-chr16:48653678..48655637,3	MCF-7	breast:
2	chr16:48417371..48420713-chr16:48642499..48645364,3	K562	blood:
3	chr16:48636374..48639117-chr16:48642848..48644889,3	MCF-7	breast:
4	chr16:48278224..48281613-chr16:48642327..48645557,3	MCF-7	breast:
5	chr16:48290202..48292169-chr16:48641229..48643370,2	MCF-7	breast:
6	chr16:48636348..48638874-chr16:48641230..48644046,3	MCF-7	breast:
7	chr16:48576310..48578328-chr16:48641352..48644093,2	K562	blood:
8	chr16:48611677..48614965-chr16:48642822..48645500,3	MCF-7	breast:
9	chr16:48591602..48593821-chr16:48642725..48645233,2	MCF-7	breast:
10	chr16:48417956..48420702-chr16:48642244..48644303,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000243609	Chromatin interaction
ENSG00000102921	Chromatin interaction
ENSG00000261267	Chromatin interaction
ENSG00000121270	Chromatin interaction
ENSG00000196470	Chromatin interaction
ENSG00000259912	Chromatin interaction
ENSG00000102910	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	esv3405809	chr16:48642876-48645424	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3422336	chr16:48643001-48645099	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48640400-48643400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
2	chr16:48640800-48643400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr16:48641200-48644600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:48641400-48643400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr16:48641600-48643400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr16:48641600-48643400	Flanking Active TSS	Dnd41	blood
7	chr16:48641800-48643400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr16:48641800-48644400	Active TSS	Stomach Mucosa	stomach
9	chr16:48641800-48644400	Active TSS	HSMMtube	muscle
10	chr16:48641800-48644800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr16:48641800-48644800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr16:48641800-48644800	Active TSS	HSMM	muscle
13	chr16:48641800-48645200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr16:48642000-48643400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr16:48642000-48643400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr16:48642000-48643400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr16:48642000-48643600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr16:48642000-48643600	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr16:48642000-48644600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:48642000-48644600	Active TSS	Esophagus	oesophagus
21	chr16:48642000-48644800	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr16:48642200-48643400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr16:48642200-48643400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr16:48642200-48643400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr16:48642200-48644000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr16:48642200-48644800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr16:48642200-48644800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr16:48642200-48644800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr16:48642400-48643400	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr16:48642400-48643400	Flanking Active TSS	Fetal Brain Male	brain
31	chr16:48642400-48643400	Flanking Active TSS	Placenta	Placenta
32	chr16:48642400-48643600	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr16:48642400-48643600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr16:48642400-48644400	Active TSS	Lung	lung
35	chr16:48642400-48644600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr16:48642400-48644600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr16:48642400-48644600	Active TSS	Ovary	ovary
38	chr16:48642400-48644600	Active TSS	GM12878-XiMat	blood
39	chr16:48642400-48644800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr16:48642600-48643400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr16:48642600-48643400	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr16:48642600-48643600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr16:48642600-48643600	Active TSS	Right Atrium	heart
44	chr16:48642600-48644200	Active TSS	Small Intestine	intestine
45	chr16:48642600-48644400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr16:48642600-48644400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr16:48642600-48644400	Active TSS	Duodenum Mucosa	Duodenum
48	chr16:48642600-48644400	Active TSS	Fetal Intestine Small	intestine
49	chr16:48642600-48644400	Active TSS	NHEK	skin
50	chr16:48642600-48644600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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