Variant report

Variant	rs555180125
Chromosome Location	chr2:11622952-11622953
allele	A/G/T
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 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	chr17:77905046..77907139-chr2:11621088..11623747,2	MCF-7	breast:
10	chr2:11621397..11624240-chr2:11808602..11811433,2	MCF-7	breast:
11	chr17:56736452..56738278-chr2:11622249..11624597,2	MCF-7	breast:
12	chr17:59486452..59489829-chr2:11621116..11624500,4	MCF-7	breast:
13	chr2:11567153..11569270-chr2:11621893..11624749,2	MCF-7	breast:
14	chr2:11622883..11625359-chr2:11804160..11807192,3	MCF-7	breast:
15	chr17:57922980..57925938-chr2:11621191..11623045,2	MCF-7	breast:
16	chr2:11620752..11623461-chr7:108208476..108211188,2	MCF-7	breast:
17	chr2:10968173..10970876-chr2:11621344..11624039,2	MCF-7	breast:
18	chr2:11295276..11298034-chr2:11619894..11623397,3	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	chr2:11620854..11623036-chr5:41911701..41913647,2	MCF-7	breast:
26	chr2:11622407..11624543-chr2:228505560..228507680,2	MCF-7	breast:
27	chr2:11272161..11273870-chr2:11621396..11624363,2	MCF-7	breast:
28	chr2:11619575..11623223-chr2:11785570..11788850,5	MCF-7	breast:
29	chr2:11572499..11575442-chr2:11621165..11623225,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000150873	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000134318	Chromatin interaction
ENSG00000145063	Chromatin interaction
ENSG00000134324	Chromatin interaction
ENSG00000177683	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000207267	Chromatin interaction
ENSG00000230044	Chromatin interaction
ENSG00000128590	Chromatin interaction
ENSG00000135241	Chromatin interaction
ENSG00000169006	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000228496	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000162976	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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11621400-11623200	Bivalent Enhancer	Placenta	Placenta
2	chr2:11621400-11623400	Bivalent Enhancer	Fetal Brain Male	brain
3	chr2:11621600-11624000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr2:11621800-11623200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr2:11621800-11623400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr2:11622000-11623400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
7	chr2:11622000-11623400	Bivalent/Poised TSS	Fetal Brain Female	brain
8	chr2:11622000-11623600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr2:11622000-11624000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr2:11622000-11624000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:11622000-11624600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr2:11622000-11624600	Enhancers	Fetal Heart	heart
13	chr2:11622000-11624600	Active TSS	Ovary	ovary
14	chr2:11622200-11623000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:11622200-11623200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr2:11622200-11623200	Active TSS	Right Ventricle	heart
17	chr2:11622200-11623600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
18	chr2:11622200-11623800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:11622200-11624000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:11622200-11624200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr2:11622200-11624200	Active TSS	Brain Anterior Caudate	brain
22	chr2:11622200-11624200	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr2:11622200-11624400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:11622200-11624400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:11622200-11624600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:11622200-11625000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:11622400-11623000	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr2:11622400-11623200	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr2:11622400-11623200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
30	chr2:11622400-11623200	Active TSS	Stomach Smooth Muscle	stomach
31	chr2:11622400-11623400	Bivalent/Poised TSS	Fetal Stomach	stomach
32	chr2:11622400-11623400	Active TSS	Left Ventricle	heart
33	chr2:11622400-11623800	Bivalent Enhancer	Primary B cells from cord blood	blood
34	chr2:11622400-11624000	Active TSS	H9 Cell Line	embryonic stem cell
35	chr2:11622400-11624000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:11622400-11624000	Active TSS	Brain Hippocampus Middle	brain
37	chr2:11622400-11624200	Active TSS	Brain Cingulate Gyrus	brain
38	chr2:11622400-11624200	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr2:11622400-11624400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:11622400-11624400	Active TSS	Brain Angular Gyrus	brain
41	chr2:11622600-11623000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:11622600-11623200	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:11622600-11623200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr2:11622600-11623200	Active TSS	Fetal Muscle Leg	muscle
45	chr2:11622600-11623200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
46	chr2:11622600-11623400	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr2:11622600-11623400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
48	chr2:11622600-11623400	Active TSS	Right Atrium	heart
49	chr2:11622600-11623400	Bivalent Enhancer	Spleen	Spleen
50	chr2:11622600-11623400	Active TSS	HepG2	liver

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