Variant report

Variant	rs3782700
Chromosome Location	chr12:106636700-106636701
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106634944..106646449-chr12:106667585..106679535,27	MCF-7	breast:
2	chr12:106636406..106639904-chr12:106695865..106698141,3	MCF-7	breast:
3	chr12:106630484..106633329-chr12:106636143..106637779,2	K562	blood:

Variant related genes	Relation type
ENSG00000136026	Chromatin interaction
ENSG00000166046	Chromatin interaction
ENSG00000238609	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12424255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424487	0.82[EUR][1000 genomes]
rs12426038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12426351	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12427390	1.00[AFR][1000 genomes]
rs17216556	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35134798	1.00[ASN][1000 genomes]
rs3759303	1.00[ASN][1000 genomes]
rs3782702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830730	chr12:106621530-106642222	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1839947	chr12:106622186-106642064	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1797996	chr12:106622186-106642222	Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv560055	chr12:106634722-106641710	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv560056	chr12:106634722-106642064	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv560057	chr12:106634722-106642170	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv560058	chr12:106634722-106642222	Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr12:106621400-106638200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:106622200-106639000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:106622200-106639600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:106625200-106636800	Weak transcription	Right Atrium	heart
5	chr12:106625200-106640800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:106628600-106638600	Weak transcription	Fetal Brain Male	brain
7	chr12:106628800-106637000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:106629000-106638400	Strong transcription	Fetal Muscle Trunk	muscle
9	chr12:106629200-106636800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:106629200-106637600	Strong transcription	Fetal Stomach	stomach
11	chr12:106629400-106637000	Strong transcription	NHDF-Ad	bronchial
12	chr12:106629400-106639000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:106630000-106636800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr12:106630200-106638600	Weak transcription	Hela-S3	cervix
15	chr12:106630200-106638600	Strong transcription	NHLF	lung
16	chr12:106630400-106637200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr12:106630400-106637200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:106630400-106637400	Strong transcription	NHEK	skin
19	chr12:106630400-106638200	Strong transcription	HSMM	muscle
20	chr12:106630600-106638600	Weak transcription	Small Intestine	intestine
21	chr12:106631200-106636800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:106631400-106638400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:106631400-106638600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:106631600-106638400	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:106631800-106637000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:106631800-106637200	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:106631800-106638400	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:106632000-106637200	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr12:106632200-106638200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:106632800-106639000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:106633000-106637800	Strong transcription	NH-A	brain
32	chr12:106633200-106638400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:106633400-106638800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:106633400-106638800	Weak transcription	GM12878-XiMat	blood
35	chr12:106633600-106638000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:106633600-106639000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr12:106634000-106637200	Weak transcription	Psoas Muscle	Psoas
38	chr12:106634000-106637200	Weak transcription	Right Ventricle	heart
39	chr12:106634000-106637200	Weak transcription	Stomach Mucosa	stomach
40	chr12:106634000-106637600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr12:106634000-106638000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:106634000-106638800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:106634000-106638800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr12:106634000-106638800	Weak transcription	Brain Anterior Caudate	brain
45	chr12:106634000-106638800	Weak transcription	Brain Substantia Nigra	brain
46	chr12:106634000-106639600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:106634200-106636800	Weak transcription	Primary T cells from cord blood	blood
48	chr12:106634200-106636800	Weak transcription	Spleen	Spleen
49	chr12:106634200-106637200	Weak transcription	Pancreas	Pancrea
50	chr12:106634200-106637600	Weak transcription	Brain Cingulate Gyrus	brain

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