Variant report

Variant	rs386389543
Chromosome Location	chr2:11623479-11623480
allele	-/AG
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11621457..11624787-chr2:11753040..11757547,4	MCF-7	breast:
2	chr2:11621665..11625691-chr2:11759993..11762950,4	MCF-7	breast:
3	chr2:11622300..11624024-chr2:11961134..11963850,2	MCF-7	breast:
4	chr2:11263419..11265242-chr2:11621241..11623957,2	MCF-7	breast:
5	chr2:11373517..11376626-chr2:11621500..11624054,4	MCF-7	breast:
6	chr2:11620780..11623645-chr2:11748441..11751021,2	MCF-7	breast:
7	chr2:11268656..11272146-chr2:11621524..11625212,4	MCF-7	breast:
8	chr2:11260073..11263283-chr2:11621139..11624937,6	MCF-7	breast:
9	chr16:72323629..72325628-chr2:11623411..11625010,2	MCF-7	breast:
10	chr17:77905046..77907139-chr2:11621088..11623747,2	MCF-7	breast:
11	chr2:11267451..11270365-chr2:11623207..11626147,3	MCF-7	breast:
12	chr2:11621397..11624240-chr2:11808602..11811433,2	MCF-7	breast:
13	chr17:56736452..56738278-chr2:11622249..11624597,2	MCF-7	breast:
14	chr17:59486452..59489829-chr2:11621116..11624500,4	MCF-7	breast:
15	chr2:11567153..11569270-chr2:11621893..11624749,2	MCF-7	breast:
16	chr2:11622883..11625359-chr2:11804160..11807192,3	MCF-7	breast:
17	chr11:77899272..77902143-chr2:11623062..11626037,2	MCF-7	breast:
18	chr2:10968173..10970876-chr2:11621344..11624039,2	MCF-7	breast:
19	chr2:11484534..11486427-chr2:11621929..11623752,2	MCF-7	breast:
20	chr2:11621442..11624193-chr6:27859669..27862456,2	MCF-7	breast:
21	chr2:11313501..11315110-chr2:11621698..11623847,2	MCF-7	breast:
22	chr2:11619432..11626810-chr2:11815160..11825829,15	MCF-7	breast:
23	chr2:11622770..11625345-chr2:11826653..11829595,2	MCF-7	breast:
24	chr2:11620928..11624804-chr20:45948428..45951214,3	MCF-7	breast:
25	chr2:11622407..11624543-chr2:228505560..228507680,2	MCF-7	breast:
26	chr2:11623292..11624131-chr2:11679829..11680570,2	MCF-7	breast:
27	chr2:11272161..11273870-chr2:11621396..11624363,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000230044	Chromatin interaction
ENSG00000118369	Chromatin interaction
ENSG00000207267	Chromatin interaction
ENSG00000134318	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000188997	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000196208	Chromatin interaction
ENSG00000169006	Chromatin interaction
ENSG00000228496	Chromatin interaction
ENSG00000150873	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000134324	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000145063	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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv3435148	chr2:11622251-11624149	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11621600-11624000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr2:11622000-11623600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr2:11622000-11624000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr2:11622000-11624000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:11622000-11624600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr2:11622000-11624600	Enhancers	Fetal Heart	heart
7	chr2:11622000-11624600	Active TSS	Ovary	ovary
8	chr2:11622200-11623600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
9	chr2:11622200-11623800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:11622200-11624000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:11622200-11624200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr2:11622200-11624200	Active TSS	Brain Anterior Caudate	brain
13	chr2:11622200-11624200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr2:11622200-11624400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:11622200-11624400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:11622200-11624600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:11622200-11625000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:11622400-11623800	Bivalent Enhancer	Primary B cells from cord blood	blood
19	chr2:11622400-11624000	Active TSS	H9 Cell Line	embryonic stem cell
20	chr2:11622400-11624000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:11622400-11624000	Active TSS	Brain Hippocampus Middle	brain
22	chr2:11622400-11624200	Active TSS	Brain Cingulate Gyrus	brain
23	chr2:11622400-11624200	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr2:11622400-11624400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:11622400-11624400	Active TSS	Brain Angular Gyrus	brain
26	chr2:11622600-11623600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:11622600-11623600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
28	chr2:11622600-11623600	Bivalent/Poised TSS	Thymus	Thymus
29	chr2:11622600-11623800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:11622600-11624000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:11622600-11624000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:11622600-11624000	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr2:11622600-11624000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr2:11622600-11624000	Active TSS	Psoas Muscle	Psoas
35	chr2:11622600-11624000	Active TSS	A549	lung
36	chr2:11622600-11624200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:11622600-11624400	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr2:11622600-11624600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:11622800-11623600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
40	chr2:11622800-11623600	Flanking Active TSS	Lung	lung
41	chr2:11622800-11623800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
42	chr2:11622800-11623800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:11622800-11623800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
44	chr2:11622800-11623800	Bivalent/Poised TSS	HSMM	muscle
45	chr2:11622800-11624000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
46	chr2:11622800-11624400	Active TSS	Brain Substantia Nigra	brain
47	chr2:11623200-11623600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
48	chr2:11623200-11623600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:11623200-11623600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:11623200-11623600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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