Variant report

Variant	rs12578996
Chromosome Location	chr12:12184911-12184912
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12180034..12181901-chr12:12182893..12184952,2	MCF-7	breast:
2	chr12:11801299..11805483-chr12:12183061..12186378,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139083	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12578240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12578251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73062023	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv898804	chr12:12058411-12202173	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12171200-12185400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:12171400-12185200	Weak transcription	Spleen	Spleen
3	chr12:12171800-12185000	Weak transcription	Esophagus	oesophagus
4	chr12:12175600-12185400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:12178400-12185200	Weak transcription	Small Intestine	intestine
6	chr12:12178400-12185400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:12179000-12185200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:12179200-12185000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:12180400-12185800	Weak transcription	Dnd41	blood
10	chr12:12180800-12185200	Weak transcription	Adipose Nuclei	Adipose
11	chr12:12181600-12185200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:12181800-12185200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr12:12183400-12185800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:12183600-12186000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:12183800-12185200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr12:12184600-12185200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:12184600-12185400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:12184600-12185400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:12184600-12185800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr12:12184600-12185800	Enhancers	Thymus	Thymus
21	chr12:12184800-12185000	Enhancers	Fetal Kidney	kidney
22	chr12:12184800-12185400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr12:12184800-12185400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:12184800-12185600	Enhancers	Fetal Thymus	thymus
25	chr12:12184800-12185800	Enhancers	Primary hematopoietic stem cells	blood
26	chr12:12184800-12185800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr12:12184800-12185800	Enhancers	Fetal Muscle Leg	muscle
28	chr12:12184800-12186000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr12:12184800-12186000	Flanking Active TSS	GM12878-XiMat	blood

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