Variant report

Variant	rs2270618
Chromosome Location	chr12:117158387-117158388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr12:117155083-117158478	HEK293	kidney:	n/a	chr12:117155980-117155989 chr12:117157244-117157252 chr12:117156857-117156865

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117155609..117158442-chr12:117174031..117175991,2	MCF-7	breast:
2	chr12:117155749..117159803-chr12:117174359..117177084,5	MCF-7	breast:

Variant related genes	Relation type
C12orf49	TF binding region
ENSG00000111412	Chromatin interaction
ENSG00000135119	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2270619	0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs2279695	0.83[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4767437	0.87[CHB][hapmap];0.88[JPT][hapmap]

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	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117147200-117174000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:117147400-117173600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:117148600-117164200	Weak transcription	Stomach Mucosa	stomach
4	chr12:117149400-117174000	Weak transcription	K562	blood
5	chr12:117149600-117164200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:117150000-117162000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:117150800-117172600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:117151000-117159000	Strong transcription	Fetal Thymus	thymus
9	chr12:117151000-117161800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:117151200-117161400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:117152000-117161000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:117152000-117161000	Strong transcription	Spleen	Spleen
13	chr12:117152000-117161200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:117152000-117161200	Strong transcription	Fetal Intestine Large	intestine
15	chr12:117152000-117161400	Strong transcription	Primary T cells from cord blood	blood
16	chr12:117152200-117161000	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr12:117152400-117161200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr12:117152600-117161000	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr12:117152600-117161000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:117152800-117161400	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr12:117153000-117161000	Strong transcription	Thymus	Thymus
22	chr12:117153000-117161000	Strong transcription	GM12878-XiMat	blood
23	chr12:117153000-117161200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr12:117153000-117161600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr12:117153200-117161000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:117153200-117161200	Strong transcription	Primary B cells from cord blood	blood
27	chr12:117153200-117161600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr12:117153400-117161000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:117153400-117161000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr12:117153400-117161400	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:117153600-117161000	Strong transcription	Liver	Liver
32	chr12:117153800-117161600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:117154200-117161000	Strong transcription	NHEK	skin
34	chr12:117154400-117158400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr12:117154600-117158400	Enhancers	Fetal Kidney	kidney
36	chr12:117154800-117170600	Weak transcription	Hela-S3	cervix
37	chr12:117155000-117161600	Strong transcription	HepG2	liver
38	chr12:117155200-117159000	Enhancers	Fetal Brain Male	brain
39	chr12:117155200-117161000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:117155400-117158400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:117155600-117160200	Weak transcription	Ovary	ovary
42	chr12:117155800-117158400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
43	chr12:117155800-117158400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:117155800-117158400	Enhancers	Psoas Muscle	Psoas
45	chr12:117155800-117158600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr12:117156000-117159200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:117156200-117158600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr12:117156200-117165000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:117156400-117159600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:117156600-117158600	Enhancers	Fetal Heart	heart

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