Variant report

Variant	rs2294287
Chromosome Location	chr12:120877113-120877114
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:120877100-120877250	GM12874	blood:	n/a	n/a
2	CTCF	chr12:120877100-120877250	HFF	foreskin:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120807836..120809663-chr12:120875850..120878030,2	MCF-7	breast:
2	chr12:120728080..120732301-chr12:120874297..120877936,6	K562	blood:
3	chr12:120875699..120878976-chr12:120901336..120905207,3	MCF-7	breast:
4	chr12:120728565..120730817-chr12:120874965..120877227,3	MCF-7	breast:
5	chr12:120638719..120641136-chr12:120874234..120877493,3	K562	blood:
6	chr12:120763843..120766324-chr12:120875587..120877145,2	MCF-7	breast:
7	chr12:120727155..120732265-chr12:120871900..120878042,6	MCF-7	breast:
8	chr12:120874999..120877444-chr12:120972685..120975166,2	K562	blood:
9	chr12:120875946..120878903-chr12:121123173..121125911,2	K562	blood:
10	chr12:120875890..120877701-chr12:120905742..120908323,3	MCF-7	breast:
11	chr12:120876566..120877211-chr12:120903967..120904688,2	K562	blood:
12	chr12:120874293..120878054-chr12:120905643..120908923,7	K562	blood:
13	chr12:120875699..120878054-chr12:120933967..120936016,2	K562	blood:

No data

Variant related genes	Relation type
COX6A1	TF binding region
ENSG00000239881	Chromatin interaction
ENSG00000170890	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000110917	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000089157	Chromatin interaction

rs_ID	r²[population]
rs2076022	0.83[AMR][1000 genomes]
rs2516078	0.80[AMR][1000 genomes]
rs59701271	0.84[AMR][1000 genomes]

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120875200-120877200	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr12:120875200-120877200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:120875200-120877800	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:120875200-120877800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:120875200-120878000	Active TSS	Right Atrium	heart
6	chr12:120875600-120877800	Active TSS	GM12878-XiMat	blood
7	chr12:120876200-120877200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:120876200-120877200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr12:120876200-120877200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr12:120876200-120877400	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr12:120876200-120877600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:120876200-120877600	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr12:120876400-120877200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:120876400-120877200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:120876400-120877200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr12:120876400-120877200	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr12:120876400-120877200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:120876400-120877200	Flanking Active TSS	Colon Smooth Muscle	Colon
19	chr12:120876400-120877200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr12:120876400-120877200	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr12:120876400-120877200	Transcr. at gene 5' and 3'	Dnd41	blood
22	chr12:120876400-120877200	Flanking Active TSS	Hela-S3	cervix
23	chr12:120876400-120877400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:120876400-120877400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:120876400-120877600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr12:120876400-120877600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr12:120876400-120878000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr12:120876400-120878000	Enhancers	Spleen	Spleen
29	chr12:120876400-120883400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr12:120876600-120877200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:120876600-120877200	Enhancers	Primary B cells from peripheral blood	blood
32	chr12:120876600-120877200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:120876600-120877200	Enhancers	Gastric	stomach
34	chr12:120876600-120877200	Enhancers	Lung	lung
35	chr12:120876600-120877200	Flanking Active TSS	A549	lung
36	chr12:120876600-120877400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:120876600-120877600	Enhancers	HSMMtube	muscle
38	chr12:120876600-120877800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:120876600-120877800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr12:120876600-120877800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:120876600-120878400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:120876600-120878600	Weak transcription	Ovary	ovary
43	chr12:120876800-120877200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:120876800-120877200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:120876800-120877200	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr12:120876800-120877200	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr12:120876800-120877200	Flanking Active TSS	Right Ventricle	heart
48	chr12:120876800-120877200	Flanking Active TSS	HepG2	liver
49	chr12:120876800-120877200	Transcr. at gene 5' and 3'	HSMM	muscle
50	chr12:120876800-120877200	Flanking Active TSS	NHEK	skin

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