Variant report

Variant	rs60402543
Chromosome Location	chr12:12597121-12597122
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12594582..12598614-chr12:12600481..12604032,6	MCF-7	breast:
2	chr12:12596781..12599320-chr12:12712582..12714845,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111266	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11834653	1.00[AMR][1000 genomes]
rs11835141	1.00[AMR][1000 genomes]
rs11835684	1.00[AMR][1000 genomes]
rs59272770	1.00[AMR][1000 genomes]
rs60014612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60117219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61082937	1.00[AMR][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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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 miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12582600-12599400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr12:12584000-12598600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:12587400-12600200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:12587400-12600200	Weak transcription	Ovary	ovary
5	chr12:12588600-12599400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:12589800-12607200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:12590000-12599400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:12590400-12599200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:12590400-12601800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:12590600-12599600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr12:12590600-12614600	Weak transcription	Primary B cells from cord blood	blood
12	chr12:12590800-12599600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr12:12592000-12598400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr12:12592200-12600400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:12592200-12602200	Enhancers	Fetal Thymus	thymus
16	chr12:12592400-12597600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:12592600-12598200	Enhancers	Stomach Mucosa	stomach
18	chr12:12592800-12598200	Enhancers	Fetal Lung	lung
19	chr12:12593200-12597600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:12593800-12597400	Enhancers	Pancreas	Pancrea
21	chr12:12594000-12597400	Enhancers	Brain Substantia Nigra	brain
22	chr12:12594000-12597400	Enhancers	Left Ventricle	heart
23	chr12:12594000-12597600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr12:12594000-12599200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr12:12594200-12597200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:12594400-12600200	Weak transcription	Lung	lung
27	chr12:12594400-12618200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr12:12594800-12597200	Enhancers	Brain Hippocampus Middle	brain
29	chr12:12594800-12600400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:12595000-12597600	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr12:12595000-12597600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr12:12595000-12597600	Enhancers	Adipose Nuclei	Adipose
33	chr12:12595000-12602200	Weak transcription	Placenta	Placenta
34	chr12:12595200-12599000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr12:12595200-12599200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:12595200-12600200	Weak transcription	Fetal Intestine Large	intestine
37	chr12:12595200-12602800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr12:12595200-12609200	Weak transcription	GM12878-XiMat	blood
39	chr12:12595200-12618600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr12:12595400-12597400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:12595400-12597600	Enhancers	Stomach Smooth Muscle	stomach
42	chr12:12595400-12597600	Enhancers	Thymus	Thymus
43	chr12:12595800-12597400	Enhancers	Liver	Liver
44	chr12:12595800-12597400	Enhancers	Fetal Stomach	stomach
45	chr12:12595800-12597600	Enhancers	Fetal Muscle Leg	muscle
46	chr12:12595800-12600200	Weak transcription	Fetal Intestine Small	intestine
47	chr12:12596000-12597400	Weak transcription	Small Intestine	intestine
48	chr12:12596000-12599200	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr12:12596000-12602200	Weak transcription	A549	lung
50	chr12:12596000-12620200	Weak transcription	HSMM	muscle

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