Variant report

Variant	rs5745864
Chromosome Location	chr12:118464038-118464039
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	POLR2A	chr12:118463921-118464121	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
RFC5	TF binding region

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	nsv560388	chr12:118391600-118482352	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1795965	chr12:118463329-118504859	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 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	chr12:118455200-118472800	Weak transcription	Right Atrium	heart
2	chr12:118455200-118497400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:118455600-118490200	Strong transcription	Fetal Muscle Trunk	muscle
4	chr12:118455800-118469600	Weak transcription	Fetal Brain Male	brain
5	chr12:118455800-118471800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:118455800-118476000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:118455800-118485000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:118455800-118490000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:118456000-118478000	Weak transcription	Fetal Heart	heart
10	chr12:118456000-118482800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:118456000-118484600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:118456000-118490200	Strong transcription	Fetal Stomach	stomach
13	chr12:118456200-118471000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:118456200-118472400	Strong transcription	A549	lung
15	chr12:118456200-118484000	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:118456200-118484200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:118456200-118484600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:118456200-118490000	Strong transcription	Fetal Muscle Leg	muscle
19	chr12:118456200-118490200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:118456200-118490400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:118456400-118472200	Weak transcription	Stomach Mucosa	stomach
22	chr12:118456400-118489800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:118456400-118491000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:118456600-118477400	Strong transcription	Fetal Thymus	thymus
25	chr12:118456600-118482800	Strong transcription	Primary T cells from cord blood	blood
26	chr12:118456600-118489800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:118456800-118471800	Strong transcription	Liver	Liver
28	chr12:118456800-118473000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr12:118456800-118474400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:118456800-118482000	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr12:118456800-118484000	Strong transcription	Stomach Smooth Muscle	stomach
32	chr12:118456800-118489400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:118456800-118489800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:118457000-118465200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:118457000-118465600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:118457000-118466000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:118457000-118472800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:118457000-118482600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr12:118457000-118482800	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr12:118457000-118482800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:118457000-118484600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:118457000-118488200	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr12:118457000-118489600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr12:118457200-118465200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:118457200-118465200	Strong transcription	Ovary	ovary
46	chr12:118457200-118483000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:118457200-118491400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr12:118457400-118465200	Strong transcription	Fetal Intestine Small	intestine
49	chr12:118457400-118465200	Strong transcription	NHEK	skin
50	chr12:118457600-118482400	Strong transcription	Thymus	Thymus

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