Variant report

Variant	rs73292513
Chromosome Location	chr12:46205255-46205256
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:46198769..46201857-chr12:46205127..46208434,4	K562	blood:
2	chr12:46197464..46201249-chr12:46203062..46207462,5	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs56884429	1.00[AFR][1000 genomes]
rs57470002	0.83[AFR][1000 genomes]
rs58544881	0.83[AFR][1000 genomes]
rs73290761	0.81[AFR][1000 genomes]
rs73290779	1.00[AFR][1000 genomes]
rs73290786	1.00[AFR][1000 genomes]
rs73290789	1.00[AFR][1000 genomes]
rs73290790	1.00[AFR][1000 genomes]
rs73292505	1.00[AFR][1000 genomes]
rs73292506	1.00[AFR][1000 genomes]
rs73292514	1.00[AFR][1000 genomes]
rs73292526	0.91[AFR][1000 genomes]
rs73292528	1.00[AFR][1000 genomes]
rs73292535	1.00[AFR][1000 genomes]
rs73292551	1.00[AFR][1000 genomes]
rs73292563	0.83[AFR][1000 genomes]
rs73292567	0.83[AFR][1000 genomes]
rs73292573	0.83[AFR][1000 genomes]
rs73292583	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758306	chr12:46149338-46349891	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759897	chr12:46149338-46349891	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv832396	chr12:46155424-46310583	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv3325128	chr12:46175148-46224560	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46149600-46215400	Weak transcription	Fetal Kidney	kidney
2	chr12:46164600-46230000	Weak transcription	Thymus	Thymus
3	chr12:46169000-46208000	Weak transcription	Brain Angular Gyrus	brain
4	chr12:46169000-46215400	Weak transcription	Fetal Lung	lung
5	chr12:46175200-46215400	Weak transcription	Primary B cells from cord blood	blood
6	chr12:46177400-46215000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:46177600-46243400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:46182600-46230600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:46183800-46215400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:46183800-46243400	Weak transcription	Small Intestine	intestine
11	chr12:46184600-46231200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:46186000-46233400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:46186200-46215200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:46186200-46215400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:46186800-46243400	Weak transcription	HSMMtube	muscle
16	chr12:46191400-46215200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:46193200-46215600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:46193400-46217400	Weak transcription	K562	blood
19	chr12:46193800-46205400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:46194000-46228200	Weak transcription	Fetal Stomach	stomach
21	chr12:46196400-46243200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:46198000-46215800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:46198000-46229600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:46198200-46226200	Weak transcription	Esophagus	oesophagus
25	chr12:46200200-46209200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:46200600-46216400	Weak transcription	NHEK	skin
27	chr12:46200600-46244000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:46200800-46227400	Weak transcription	Fetal Intestine Small	intestine
29	chr12:46201800-46215400	Weak transcription	Liver	Liver
30	chr12:46201800-46233200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:46202000-46215200	Weak transcription	HepG2	liver
32	chr12:46202000-46215800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:46202000-46217200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:46202200-46215400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:46202200-46233200	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:46202600-46208200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:46202600-46214200	Weak transcription	Colon Smooth Muscle	Colon
38	chr12:46202600-46214400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr12:46202600-46221200	Weak transcription	Fetal Brain Female	brain
40	chr12:46202600-46233400	Weak transcription	Brain Substantia Nigra	brain
41	chr12:46202600-46243400	Weak transcription	Aorta	Aorta
42	chr12:46202800-46215400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:46202800-46220200	Weak transcription	Pancreas	Pancrea
44	chr12:46202800-46230400	Weak transcription	Left Ventricle	heart
45	chr12:46202800-46237800	Weak transcription	Lung	lung
46	chr12:46202800-46243200	Weak transcription	Ovary	ovary
47	chr12:46202800-46243200	Weak transcription	Right Ventricle	heart
48	chr12:46203000-46213200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:46203400-46208200	Strong transcription	Fetal Thymus	thymus
50	chr12:46203400-46216000	Weak transcription	Fetal Muscle Leg	muscle

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