Variant report

Variant	rs12315013
Chromosome Location	chr12:120903598-120903599
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120903530-120903980	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:120903204-120904594	K562	blood:	n/a	n/a
3	POLR2A	chr12:120897616-120904088	K562	blood:	n/a	n/a
4	POLR2A	chr12:120903127-120903804	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr12:120903077-120903601	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr12:120903402-120903647	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120903038..120905431-chr12:120905615..120907773,3	MCF-7	breast:
2	chr12:120902972..120904717-chr12:120970702..120973004,2	MCF-7	breast:
3	chr12:120877503..120880070-chr12:120902368..120904130,3	K562	blood:
4	chr12:120727751..120732241-chr12:120903536..120914205,12	MCF-7	breast:
5	chr12:120727396..120732537-chr12:120902983..120911236,13	K562	blood:
6	chr12:120902897..120904782-chr12:120966236..120968929,2	K562	blood:
7	chr12:120875699..120878976-chr12:120901336..120905207,3	MCF-7	breast:
8	chr12:120899786..120915162-chr12:120926090..120939394,54	MCF-7	breast:
9	chr12:120888535..120893350-chr12:120899980..120905393,5	MCF-7	breast:
10	chr12:120901679..120904558-chr12:121000718..121002863,2	K562	blood:

No data

Variant related genes	Relation type
SRSF9	TF binding region
DYNLL1	TF binding region
ENSG00000248008	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000219355	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000111780	Chromatin interaction
ENSG00000110871	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11548264	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs14017	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17431357	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17431446	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17487385	0.91[AMR][1000 genomes]
rs17584461	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73221358	0.86[EUR][1000 genomes]
rs73221362	0.86[EUR][1000 genomes]
rs73221372	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73221373	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73221378	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73221381	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73221382	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73225208	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73225213	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73225218	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73225219	0.86[AMR][1000 genomes]
rs73225225	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73225229	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73225238	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73225245	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73225248	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73230303	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73230305	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73230306	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73230308	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73230314	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73230318	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73230322	0.91[AMR][1000 genomes]
rs73230328	0.82[AMR][1000 genomes]
rs73230332	0.82[AMR][1000 genomes]
rs73230337	0.82[AMR][1000 genomes]
rs73230339	0.82[AMR][1000 genomes]
rs73230342	0.82[AMR][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120885400-120904400	Strong transcription	Fetal Muscle Trunk	muscle
2	chr12:120885400-120906000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:120885400-120906000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:120885600-120904000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:120885600-120904000	Strong transcription	Fetal Stomach	stomach
6	chr12:120885800-120904200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:120885800-120904400	Strong transcription	Fetal Muscle Leg	muscle
8	chr12:120885800-120904400	Weak transcription	Right Atrium	heart
9	chr12:120885800-120904600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:120885800-120904600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:120886000-120904200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:120886200-120904800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:120886600-120904200	Strong transcription	Fetal Thymus	thymus
14	chr12:120887000-120904000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:120887000-120904000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:120887000-120904000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:120887000-120905000	Strong transcription	Thymus	Thymus
18	chr12:120887000-120905600	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr12:120887200-120904600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:120888000-120904000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:120888600-120905800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:120889600-120904400	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:120889800-120904600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:120890000-120903600	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:120890200-120904000	Strong transcription	Primary hematopoietic stem cells	blood
26	chr12:120890200-120904000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:120890200-120904400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr12:120890400-120905800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:120890600-120905400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:120891000-120905800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:120891200-120904400	Strong transcription	K562	blood
32	chr12:120891200-120905600	Strong transcription	Placenta	Placenta
33	chr12:120891200-120905800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:120891400-120903600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:120891400-120904000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr12:120891600-120903600	Strong transcription	Liver	Liver
37	chr12:120891600-120904600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:120891600-120905200	Strong transcription	Fetal Intestine Large	intestine
39	chr12:120892200-120903800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:120892400-120905000	Strong transcription	Primary T cells from cord blood	blood
41	chr12:120892400-120905600	Strong transcription	Fetal Intestine Small	intestine
42	chr12:120892600-120903600	Strong transcription	Brain Hippocampus Middle	brain
43	chr12:120892600-120903800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:120892600-120903800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:120892600-120904000	Strong transcription	Adipose Nuclei	Adipose
46	chr12:120892600-120904200	Strong transcription	Fetal Brain Female	brain
47	chr12:120892600-120905600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr12:120892800-120904000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:120892800-120904000	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:120893000-120903600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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