Variant report

Variant	rs545295371
Chromosome Location	chr12:120971678-120971679
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr12:120971640-120973428	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:120883164..120885526-chr12:120971268..120972852,2	K562	blood:
2	chr12:120970635..120973356-chr12:121018386..121020894,3	K562	blood:
3	chr12:120727107..120731318-chr12:120971335..120975286,11	K562	blood:
4	chr12:120728453..120733011-chr12:120965347..120973411,16	MCF-7	breast:
5	chr12:120931985..120935585-chr12:120970035..120974742,8	MCF-7	breast:
6	chr12:120905043..120908623-chr12:120970585..120973644,4	K562	blood:
7	chr12:120882042..120885526-chr12:120971268..120975128,6	K562	blood:
8	chr12:120932493..120935871-chr12:120970423..120972998,4	K562	blood:
9	chr12:120932857..120935871-chr12:120969535..120974885,9	K562	blood:
10	chr12:120933021..120935221-chr12:120970996..120973452,2	MCF-7	breast:
11	chr12:120964646..120969249-chr12:120969286..120973951,11	MCF-7	breast:
12	chr12:120729269..120732334-chr12:120971435..120974602,3	K562	blood:
13	chr12:120905762..120908724-chr12:120970875..120974820,5	MCF-7	breast:

No data

Variant related genes	Relation type
RNF10	TF binding region
COQ5	TF binding region
ENSG00000111786	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000110871	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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	esv3324282	chr12:120971394-120973942	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120967200-120972200	Weak transcription	Spleen	Spleen
2	chr12:120967400-120972000	Weak transcription	Esophagus	oesophagus
3	chr12:120967400-120972200	Weak transcription	Lung	lung
4	chr12:120967400-120972200	Weak transcription	Small Intestine	intestine
5	chr12:120967600-120972200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:120967800-120971800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:120967800-120971800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:120967800-120971800	Weak transcription	Left Ventricle	heart
9	chr12:120967800-120971800	Weak transcription	HSMMtube	muscle
10	chr12:120967800-120972000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:120967800-120972000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:120968000-120971800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:120968000-120971800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:120968000-120971800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:120968000-120971800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:120968000-120971800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:120968000-120971800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:120968000-120971800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:120968000-120971800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:120968000-120971800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:120968000-120971800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr12:120968000-120971800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:120968000-120971800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:120968000-120971800	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:120968000-120971800	Weak transcription	Fetal Lung	lung
26	chr12:120968000-120971800	Weak transcription	Ovary	ovary
27	chr12:120968000-120971800	Weak transcription	Stomach Mucosa	stomach
28	chr12:120968000-120971800	Weak transcription	Thymus	Thymus
29	chr12:120968000-120972000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:120968000-120972000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr12:120968000-120972000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:120968000-120972000	Weak transcription	NH-A	brain
33	chr12:120968200-120971800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr12:120968200-120971800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:120968200-120971800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:120968200-120971800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:120968200-120971800	Weak transcription	Fetal Intestine Large	intestine
38	chr12:120968200-120971800	Weak transcription	Fetal Kidney	kidney
39	chr12:120968200-120971800	Weak transcription	A549	lung
40	chr12:120968200-120971800	Weak transcription	HMEC	breast
41	chr12:120968200-120971800	Weak transcription	HUVEC	blood vessel
42	chr12:120968200-120971800	Weak transcription	Osteobl	bone
43	chr12:120968400-120971800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:120968400-120971800	Weak transcription	Fetal Brain Male	brain
45	chr12:120968400-120971800	Weak transcription	Fetal Intestine Small	intestine
46	chr12:120968400-120971800	Weak transcription	Placenta	Placenta
47	chr12:120968400-120971800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:120968400-120971800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:120968600-120971800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr12:120968600-120971800	Weak transcription	Primary B cells from cord blood	blood

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