Variant report

Variant	rs3782678
Chromosome Location	chr12:8186517-8186518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:8183609..8186953-chr12:8232808..8236299,4	K562	blood:
2	chr12:8186006..8188471-chr12:8218632..8220476,2	K562	blood:
3	chr12:8169829..8172822-chr12:8186044..8187926,2	K562	blood:
4	chr12:8086985..8090687-chr12:8184864..8188373,3	K562	blood:

Variant related genes	Relation type
ENSG00000171860	Chromatin interaction
ENSG00000089818	Chromatin interaction
ENSG00000059804	Chromatin interaction
ENSG00000255581	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11057000	0.88[ASN][1000 genomes]
rs11057001	0.88[ASN][1000 genomes]
rs11561177	1.00[AFR][1000 genomes]
rs11567805	1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs12315554	0.98[ASN][1000 genomes]
rs2230318	0.89[AMR][1000 genomes]
rs3759280	0.89[JPT][hapmap]
rs3782679	0.89[JPT][hapmap]
rs73244571	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048545	chr12:7778760-8608231	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv541368	chr12:7778760-8608231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	esv1795892	chr12:7856819-8508693	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2758292	chr12:7856819-8623987	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	esv2759877	chr12:7856819-8623987	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv428270	chr12:7856819-8623987	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
7	esv1797934	chr12:7985460-8214261	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
8	esv1793572	chr12:7995827-8568422	Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv541384	chr12:8003214-8188846	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
10	nsv1040972	chr12:8003413-8266291	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
11	nsv541388	chr12:8003413-8266291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	nsv916941	chr12:8003501-8608220	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
13	esv2751118	chr12:8017473-8190206	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
14	nsv898729	chr12:8044997-8190206	Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
15	nsv1045521	chr12:8123225-8242846	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
16	nsv898732	chr12:8123306-8190206	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
17	nsv1040958	chr12:8177050-8309724	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
18	nsv541396	chr12:8177050-8309724	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8184200-8186600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:8184400-8186600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:8184400-8187600	Active TSS	NHDF-Ad	bronchial
4	chr12:8184600-8186600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:8184600-8186600	Active TSS	Right Ventricle	heart
6	chr12:8184600-8186800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr12:8184600-8186800	Active TSS	Left Ventricle	heart
8	chr12:8184600-8186800	Active TSS	Ovary	ovary
9	chr12:8184600-8187000	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr12:8184600-8187000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:8184600-8187600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr12:8184600-8187600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:8184600-8189000	Active TSS	Aorta	Aorta
14	chr12:8184800-8188200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr12:8185000-8186800	Active TSS	Gastric	stomach
16	chr12:8185000-8186800	Active TSS	NHLF	lung
17	chr12:8185400-8187000	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr12:8185400-8187400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:8185600-8186600	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr12:8185600-8186800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr12:8185600-8186800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:8185600-8186800	Flanking Active TSS	Fetal Thymus	thymus
23	chr12:8185600-8187000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr12:8185600-8187000	Flanking Active TSS	Placenta	Placenta
25	chr12:8185600-8187200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr12:8185600-8187200	Flanking Active TSS	Liver	Liver
27	chr12:8185600-8187800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr12:8185600-8188000	Flanking Active TSS	Colonic Mucosa	Colon
29	chr12:8185600-8188400	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr12:8185600-8188600	Flanking Active TSS	GM12878-XiMat	blood
31	chr12:8185800-8186600	Flanking Active TSS	Dnd41	blood
32	chr12:8185800-8187000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr12:8185800-8187000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr12:8185800-8187000	Flanking Active TSS	Fetal Stomach	stomach
35	chr12:8185800-8187200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:8185800-8187200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:8185800-8187200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:8185800-8187400	Flanking Active TSS	HUVEC	blood vessel
39	chr12:8185800-8187600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr12:8185800-8187600	Flanking Active TSS	Thymus	Thymus
41	chr12:8185800-8187800	Flanking Active TSS	Fetal Brain Male	brain
42	chr12:8185800-8188000	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr12:8185800-8188600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:8185800-8188600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr12:8185800-8188800	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr12:8185800-8189400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr12:8186000-8186600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:8186000-8186600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:8186000-8186800	Flanking Active TSS	Lung	lung
50	chr12:8186000-8187000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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