Variant report

Variant	rs12578639
Chromosome Location	chr12:118489636-118489637
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118405716..118409105-chr12:118489157..118492188,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171435	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11068779	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068780	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068788	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313999	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12579444	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12582265	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55973710	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745792	0.82[AMR][1000 genomes]
rs5745807	0.87[AMR][1000 genomes]
rs5745808	0.83[AMR][1000 genomes]
rs5745820	0.82[AMR][1000 genomes]
rs5745876	0.92[ASN][1000 genomes]
rs57493385	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58116528	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58436126	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58639682	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60777883	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61094951	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7485548	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7488835	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118455200-118497400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:118455600-118490200	Strong transcription	Fetal Muscle Trunk	muscle
3	chr12:118455800-118490000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:118456000-118490200	Strong transcription	Fetal Stomach	stomach
5	chr12:118456200-118490000	Strong transcription	Fetal Muscle Leg	muscle
6	chr12:118456200-118490200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:118456200-118490400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:118456400-118489800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:118456400-118491000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:118456600-118489800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:118456800-118489800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:118457200-118491400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:118459800-118491000	Strong transcription	Fetal Brain Female	brain
14	chr12:118473200-118489800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:118474800-118490400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:118476400-118490600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:118476400-118497600	Weak transcription	Fetal Brain Male	brain
18	chr12:118477000-118497600	Weak transcription	Primary B cells from cord blood	blood
19	chr12:118477200-118491800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:118479400-118490000	Weak transcription	Psoas Muscle	Psoas
21	chr12:118479400-118490600	Weak transcription	Fetal Heart	heart
22	chr12:118480400-118490400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:118480800-118490200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:118480800-118497200	Weak transcription	Fetal Kidney	kidney
25	chr12:118481000-118493000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:118481000-118498200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:118481200-118497600	Weak transcription	Fetal Thymus	thymus
28	chr12:118481400-118490400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr12:118481400-118497800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:118482000-118490000	Weak transcription	Right Ventricle	heart
31	chr12:118482600-118490200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr12:118482600-118490200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr12:118482600-118497600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr12:118482600-118497600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr12:118482800-118489800	Weak transcription	Brain Angular Gyrus	brain
36	chr12:118482800-118489800	Weak transcription	HSMMtube	muscle
37	chr12:118482800-118490000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:118482800-118490000	Weak transcription	Brain Substantia Nigra	brain
39	chr12:118482800-118490000	Weak transcription	Ovary	ovary
40	chr12:118482800-118497200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr12:118483600-118490200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:118484000-118489800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr12:118484800-118490600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr12:118485200-118490000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:118485200-118490600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:118485400-118490400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr12:118485400-118490800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:118485400-118490800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:118485600-118490000	Strong transcription	Placenta	Placenta
50	chr12:118485600-118490400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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