Variant report

Variant	rs7578409
Chromosome Location	chr2:233620801-233620802
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:233611281..233613594-chr2:233618570..233621008,2	MCF-7	breast:
2	chr2:233620394..233622879-chr2:233628718..233631332,2	MCF-7	breast:
3	chr2:233619490..233621276-chr2:233621324..233622956,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204120	Chromatin interaction

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

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

rs_ID	r²[population]
rs6706932	1.00[AMR][1000 genomes]
rs6720568	1.00[AMR][1000 genomes]
rs7603981	1.00[AMR][1000 genomes]

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	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233565600-233641000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:233571200-233627400	Weak transcription	Gastric	stomach
3	chr2:233585200-233655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:233585800-233626000	Weak transcription	Fetal Heart	heart
5	chr2:233587000-233630600	Weak transcription	Psoas Muscle	Psoas
6	chr2:233589600-233627000	Weak transcription	Pancreas	Pancrea
7	chr2:233597200-233627000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:233602400-233621800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:233602400-233633200	Weak transcription	Aorta	Aorta
10	chr2:233603000-233621200	Weak transcription	Esophagus	oesophagus
11	chr2:233606200-233638400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:233606800-233633200	Weak transcription	Stomach Mucosa	stomach
13	chr2:233606800-233636800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:233609200-233630800	Strong transcription	HepG2	liver
15	chr2:233611000-233628600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:233611400-233623800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:233611600-233623600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:233611600-233645600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:233611800-233622600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:233611800-233623000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:233612000-233621400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:233612000-233621600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:233612000-233621800	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:233612000-233622400	Strong transcription	Primary B cells from cord blood	blood
25	chr2:233612000-233622400	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr2:233612000-233623000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:233612000-233631000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:233612000-233634000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr2:233612000-233634000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:233612000-233640000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:233612000-233644600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr2:233612200-233621400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:233612200-233622200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:233612200-233622600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:233612200-233622800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:233612200-233623000	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:233612200-233623400	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:233612200-233623800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:233612200-233633800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:233612200-233634000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:233612200-233634400	Strong transcription	Fetal Thymus	thymus
42	chr2:233612200-233638400	Strong transcription	Placenta	Placenta
43	chr2:233612400-233622000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:233612600-233637200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:233613600-233627400	Weak transcription	Ovary	ovary
46	chr2:233613800-233635600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:233614000-233621600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:233614000-233628800	Weak transcription	Fetal Brain Male	brain
49	chr2:233614000-233636800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr2:233614200-233627000	Weak transcription	Brain Angular Gyrus	brain

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