Variant report

Variant	rs369353447
Chromosome Location	chr12:104376835-104376836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104375830..104377503-chr12:104387925..104389874,3	K562	blood:
2	chr12:104350535..104352319-chr12:104374868..104377372,2	MCF-7	breast:
3	chr12:104370024..104373447-chr12:104374664..104377599,4	K562	blood:
4	chr12:104364267..104367088-chr12:104376743..104378838,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204954	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv3358485	chr12:104376572-104377032	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104360800-104378600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:104360800-104381000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:104361200-104379400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:104361600-104385000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:104362000-104382600	Weak transcription	Esophagus	oesophagus
6	chr12:104362000-104384400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:104362000-104392800	Weak transcription	Fetal Brain Male	brain
8	chr12:104362200-104384800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:104362400-104378000	Weak transcription	Small Intestine	intestine
10	chr12:104363800-104382400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:104364000-104381000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:104364600-104383800	Strong transcription	Dnd41	blood
13	chr12:104366600-104383600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:104366800-104380400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:104366800-104381600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:104367000-104377000	Strong transcription	Fetal Stomach	stomach
17	chr12:104367600-104381000	Strong transcription	GM12878-XiMat	blood
18	chr12:104368200-104380600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:104368800-104381000	Strong transcription	Primary hematopoietic stem cells	blood
20	chr12:104368800-104381600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr12:104369200-104381000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:104369200-104381000	Strong transcription	Fetal Muscle Trunk	muscle
23	chr12:104369200-104381000	Strong transcription	Stomach Smooth Muscle	stomach
24	chr12:104369200-104383800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:104369400-104380800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:104369400-104381000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:104369400-104381000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:104369600-104381600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:104369800-104378000	Strong transcription	Primary T cells from cord blood	blood
30	chr12:104369800-104383600	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr12:104370000-104379600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:104370000-104381600	Strong transcription	Fetal Thymus	thymus
33	chr12:104370200-104381000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:104370200-104381000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:104370200-104381000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:104370200-104384600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:104370400-104379800	Strong transcription	K562	blood
38	chr12:104370400-104380400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:104370400-104380800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:104370400-104381000	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:104370400-104381000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr12:104370400-104381000	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:104370400-104381000	Strong transcription	HSMM	muscle
44	chr12:104370400-104381000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr12:104370400-104383600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:104370400-104385000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr12:104370400-104385600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:104370600-104380000	Strong transcription	NH-A	brain
49	chr12:104370600-104380400	Strong transcription	Osteobl	bone
50	chr12:104370600-104380800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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