Variant report

Variant	rs73280714
Chromosome Location	chr12:46653707-46653708
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46651773..46653852-chr12:46749032..46751385,2	MCF-7	breast:
2	chr12:46628368..46630822-chr12:46653523..46656225,2	K562	blood:
3	chr12:46650879..46653874-chr12:46653922..46655897,3	K562	blood:
4	chr12:46636917..46639849-chr12:46653348..46655689,2	MCF-7	breast:
5	chr12:46652597..46666608-chr12:46757245..46767985,36	MCF-7	breast:
6	chr12:46651484..46654186-chr12:46776577..46779431,3	MCF-7	breast:
7	chr12:46650913..46653725-chr12:46822184..46824848,2	MCF-7	breast:
8	chr12:46653089..46656059-chr12:46763885..46767167,3	MCF-7	breast:
9	chr12:46652755..46656114-chr12:46776045..46779812,3	MCF-7	breast:
10	chr12:46624577..46626777-chr12:46651581..46654334,2	MCF-7	breast:
11	chr12:46646665..46648225-chr12:46651696..46654294,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257261	Chromatin interaction
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs7311450	0.84[AFR][1000 genomes]
rs73280725	0.84[AFR][1000 genomes]
rs73280729	0.92[AFR][1000 genomes]
rs73280732	0.92[AFR][1000 genomes]
rs73280735	0.92[AFR][1000 genomes]
rs73280763	0.84[AFR][1000 genomes]
rs73280802	0.84[AFR][1000 genomes]

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	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46592800-46654200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:46597600-46659600	Weak transcription	Colonic Mucosa	Colon
3	chr12:46615800-46653800	Weak transcription	NH-A	brain
4	chr12:46618400-46653800	Weak transcription	HSMMtube	muscle
5	chr12:46633600-46653800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:46635600-46654000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:46635600-46660000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:46635800-46653800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:46640400-46660600	Weak transcription	Aorta	Aorta
10	chr12:46645200-46659600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:46646200-46653800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:46648400-46654000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:46648400-46655200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:46648400-46658400	Weak transcription	HUVEC	blood vessel
15	chr12:46648600-46654400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:46648600-46657400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:46648800-46656600	Weak transcription	Fetal Brain Female	brain
18	chr12:46649200-46657800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr12:46649400-46659600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:46649600-46654200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:46649600-46654200	Enhancers	Placenta	Placenta
22	chr12:46649800-46655600	Weak transcription	Pancreas	Pancrea
23	chr12:46650200-46654000	Enhancers	Stomach Smooth Muscle	stomach
24	chr12:46650200-46655800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:46650400-46659400	Genic enhancers	Primary B cells from peripheral blood	blood
26	chr12:46650600-46654400	Strong transcription	Fetal Thymus	thymus
27	chr12:46650800-46657800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr12:46651000-46654600	Weak transcription	Esophagus	oesophagus
29	chr12:46651200-46653800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:46651200-46654600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:46651600-46653800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr12:46651600-46653800	Weak transcription	Spleen	Spleen
33	chr12:46651600-46654000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:46651600-46655000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr12:46651600-46655400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr12:46651600-46659600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:46651800-46653800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:46651800-46653800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:46651800-46653800	Weak transcription	Fetal Muscle Leg	muscle
40	chr12:46651800-46655600	Enhancers	Primary T cells from cord blood	blood
41	chr12:46651800-46656800	Weak transcription	Thymus	Thymus
42	chr12:46652000-46656000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:46652000-46658000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr12:46652000-46659600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:46652200-46653800	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr12:46652200-46653800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:46652200-46659400	Enhancers	HepG2	liver
48	chr12:46652800-46653800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr12:46652800-46655600	Weak transcription	Left Ventricle	heart
50	chr12:46653000-46654200	Enhancers	A549	lung

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