Variant report

Variant	rs7953357
Chromosome Location	chr12:10763496-10763497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:10763493-10764063	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr12:10763133-10764031	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr12:10759407-10766713	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:10753471..10755289-chr12:10762745..10764723,2	MCF-7	breast:
2	chr12:10761406..10764167-chr12:10764893..10767913,5	MCF-7	breast:
3	chr12:10713530..10716257-chr12:10762530..10764410,2	MCF-7	breast:
4	chr12:10754715..10757719-chr12:10762132..10766161,5	MCF-7	breast:
5	chr12:10528733..10530247-chr12:10762165..10764402,2	K562	blood:
6	chr12:10759828..10762348-chr12:10763400..10769792,9	K562	blood:

No data

Variant related genes	Relation type
MAGOHB	TF binding region
ENSG00000111196	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs73257957	1.00[AFR][1000 genomes]
rs73257964	1.00[AFR][1000 genomes]
rs73257985	1.00[AFR][1000 genomes]
rs73257988	1.00[AFR][1000 genomes]
rs73261989	0.93[AFR][1000 genomes]
rs73261992	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv516351	chr12:10759489-10764045	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 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	chr12:10725600-10765000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:10730600-10764800	Weak transcription	Lung	lung
3	chr12:10732200-10764800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:10732400-10764200	Weak transcription	Pancreas	Pancrea
5	chr12:10734000-10764000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:10734000-10764600	Weak transcription	Thymus	Thymus
7	chr12:10734200-10764000	Weak transcription	Fetal Stomach	stomach
8	chr12:10734400-10764600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:10735200-10764600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:10735400-10764000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:10738800-10764000	Weak transcription	Fetal Intestine Small	intestine
12	chr12:10742600-10764600	Weak transcription	Small Intestine	intestine
13	chr12:10742800-10764800	Weak transcription	Psoas Muscle	Psoas
14	chr12:10743400-10765400	Weak transcription	Gastric	stomach
15	chr12:10744000-10765200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:10744000-10765400	Weak transcription	Aorta	Aorta
17	chr12:10744200-10764000	Weak transcription	Ovary	ovary
18	chr12:10744200-10764600	Weak transcription	HSMMtube	muscle
19	chr12:10744200-10765400	Weak transcription	Esophagus	oesophagus
20	chr12:10747000-10764800	Weak transcription	Right Ventricle	heart
21	chr12:10748400-10764600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:10749400-10764800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:10751800-10764000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:10752200-10764800	Weak transcription	Colonic Mucosa	Colon
25	chr12:10752400-10764600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:10753600-10765400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:10754000-10764400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:10755000-10763600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:10755200-10764600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:10755800-10764800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr12:10756400-10764800	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr12:10756600-10764600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:10757000-10763600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:10757200-10764000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:10757200-10764200	Strong transcription	Fetal Thymus	thymus
36	chr12:10757600-10763800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:10757800-10763800	Strong transcription	A549	lung
38	chr12:10757800-10764600	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:10758000-10764800	Weak transcription	Brain Substantia Nigra	brain
40	chr12:10758000-10765200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:10758600-10763600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:10759600-10764200	Strong transcription	HUVEC	blood vessel
43	chr12:10759600-10764600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr12:10759600-10764600	Strong transcription	Fetal Intestine Large	intestine
45	chr12:10760200-10764600	Weak transcription	Brain Angular Gyrus	brain
46	chr12:10760200-10764600	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:10760200-10764600	Weak transcription	Left Ventricle	heart
48	chr12:10760200-10764600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:10760200-10764800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr12:10760200-10764800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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