Variant report

Variant	rs7358642
Chromosome Location	chr12:48358716-48358717
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48355845..48358792-chr12:48550018..48552863,2	K562	blood:
2	chr12:48297320..48300707-chr12:48356346..48358827,3	MCF-7	breast:
3	chr12:48296295..48301288-chr12:48356017..48360451,6	MCF-7	breast:
4	chr12:48099497..48101180-chr12:48357340..48359052,2	K562	blood:

Variant related genes	Relation type
ENSG00000111424	Chromatin interaction
ENSG00000177981	Chromatin interaction
ENSG00000257433	Chromatin interaction
ENSG00000005175	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10161320	1.00[AMR][1000 genomes]
rs11168329	0.84[AFR][1000 genomes]
rs11168384	1.00[AMR][1000 genomes]
rs11168385	1.00[AMR][1000 genomes]
rs11168405	1.00[AMR][1000 genomes]
rs11574030	1.00[AMR][1000 genomes]
rs12303042	1.00[AMR][1000 genomes]
rs12303151	1.00[AMR][1000 genomes]
rs12303317	1.00[AMR][1000 genomes]
rs12303908	1.00[AMR][1000 genomes]
rs12304251	1.00[AMR][1000 genomes]
rs12306869	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12310743	1.00[AMR][1000 genomes]
rs12321931	1.00[AMR][1000 genomes]
rs12322803	1.00[AMR][1000 genomes]
rs17122326	1.00[CHB][hapmap]
rs73301128	1.00[AMR][1000 genomes]
rs73301161	1.00[AMR][1000 genomes]
rs73301164	1.00[AMR][1000 genomes]
rs9630296	1.00[CHB][hapmap]

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	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48357800-48358800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:48357800-48358800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
3	chr12:48358000-48358800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr12:48358000-48358800	Flanking Active TSS	GM12878-XiMat	blood
5	chr12:48358000-48359400	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr12:48358000-48359400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr12:48358000-48359600	Flanking Active TSS	Fetal Intestine Small	intestine
8	chr12:48358200-48358800	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:48358200-48358800	Enhancers	Small Intestine	intestine
10	chr12:48358200-48359000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:48358200-48359000	Enhancers	Fetal Heart	heart
12	chr12:48358200-48359000	Weak transcription	HSMM	muscle
13	chr12:48358200-48359200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:48358200-48359200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:48358200-48359400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:48358200-48359600	Weak transcription	Gastric	stomach
17	chr12:48358200-48359600	Weak transcription	Left Ventricle	heart
18	chr12:48358200-48359600	Transcr. at gene 5' and 3'	Dnd41	blood
19	chr12:48358200-48359800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:48358200-48359800	Enhancers	Right Atrium	heart
21	chr12:48358200-48359800	Enhancers	Spleen	Spleen
22	chr12:48358200-48360200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:48358200-48360800	Weak transcription	Aorta	Aorta
24	chr12:48358200-48363200	Weak transcription	Brain Substantia Nigra	brain
25	chr12:48358200-48364200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr12:48358200-48366200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:48358200-48366200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:48358400-48358800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:48358400-48358800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
30	chr12:48358400-48358800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr12:48358400-48358800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:48358400-48358800	Active TSS	Brain Cingulate Gyrus	brain
33	chr12:48358400-48358800	Transcr. at gene 5' and 3'	Hela-S3	cervix
34	chr12:48358400-48358800	Enhancers	HepG2	liver
35	chr12:48358400-48359000	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr12:48358400-48359200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:48358400-48359200	Weak transcription	Primary T cells from cord blood	blood
38	chr12:48358400-48359200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:48358400-48359200	Enhancers	Brain Germinal Matrix	brain
40	chr12:48358400-48359200	Enhancers	Pancreas	Pancrea
41	chr12:48358400-48359200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr12:48358400-48359200	Enhancers	HUVEC	blood vessel
43	chr12:48358400-48359400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr12:48358400-48359400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:48358400-48359400	Weak transcription	K562	blood
46	chr12:48358400-48359600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr12:48358400-48359600	Weak transcription	Thymus	Thymus
48	chr12:48358400-48359800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:48358400-48359800	Weak transcription	Fetal Stomach	stomach
50	chr12:48358400-48360200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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