Variant report

Variant	rs3782679
Chromosome Location	chr12:8190206-8190207
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:8183829..8185569-chr12:8189686..8192591,2	K562	blood:
2	chr12:8179880..8182416-chr12:8189059..8190747,2	MCF-7	breast:
3	chr12:8188281..8192732-chr12:8193522..8196171,4	K562	blood:
4	chr12:8189586..8192234-chr12:8230888..8234565,4	K562	blood:
5	chr12:8188270..8191045-chr12:8232664..8235322,4	MCF-7	breast:
6	chr12:8184049..8188047-chr12:8189263..8193320,7	MCF-7	breast:
7	chr12:7281358..7283966-chr12:8188760..8190703,2	K562	blood:
8	chr12:8189818..8192986-chr12:8193522..8196804,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000089818	Chromatin interaction
ENSG00000256967	Chromatin interaction
ENSG00000139194	Chromatin interaction
ENSG00000065970	Chromatin interaction
ENSG00000139182	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11837794	0.97[EUR][1000 genomes]
rs12304020	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17728555	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3782678	0.89[JPT][hapmap]
rs55680021	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61922167	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7968072	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs3782679	FOXJ2	cis	parietal	SCAN
rs3782679	CD163	cis	parietal	SCAN
rs3782679	HGD	trans	multi-tissue	Pritchard
rs3782679	TNFRSF1A	cis	parietal	SCAN
rs3782679	PRB4	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8186200-8191400	Enhancers	Small Intestine	intestine
2	chr12:8186400-8191000	Enhancers	Spleen	Spleen
3	chr12:8186600-8191800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:8186600-8192800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:8186800-8191000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:8186800-8191200	Enhancers	Fetal Thymus	thymus
7	chr12:8186800-8191800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:8186800-8191800	Enhancers	Lung	lung
9	chr12:8186800-8192200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:8187000-8190400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:8187000-8190600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:8187000-8191000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr12:8187000-8191000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:8187000-8191200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr12:8187000-8191200	Enhancers	Pancreas	Pancrea
16	chr12:8187000-8192000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:8187200-8191200	Enhancers	Primary T cells fromperipheralblood	blood
18	chr12:8187200-8192000	Enhancers	Primary B cells from peripheral blood	blood
19	chr12:8187200-8192000	Enhancers	Liver	Liver
20	chr12:8187400-8191000	Weak transcription	A549	lung
21	chr12:8187600-8190600	Enhancers	Thymus	Thymus
22	chr12:8187600-8190800	Enhancers	HMEC	breast
23	chr12:8187600-8191000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:8187600-8191200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:8187600-8191200	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr12:8187600-8191200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:8187600-8192600	Genic enhancers	Fetal Muscle Leg	muscle
28	chr12:8187800-8190600	Weak transcription	HSMM	muscle
29	chr12:8187800-8190800	Enhancers	Primary T cells from cord blood	blood
30	chr12:8187800-8190800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr12:8187800-8191000	Enhancers	Fetal Brain Female	brain
32	chr12:8187800-8191200	Enhancers	Fetal Lung	lung
33	chr12:8187800-8192000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:8188000-8191000	Enhancers	Brain Anterior Caudate	brain
35	chr12:8188000-8192200	Enhancers	Stomach Mucosa	stomach
36	chr12:8188200-8190400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr12:8188200-8190600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:8188200-8191200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:8188200-8191600	Enhancers	Right Ventricle	heart
40	chr12:8188400-8190600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:8188400-8190800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr12:8188400-8190800	Enhancers	Adipose Nuclei	Adipose
43	chr12:8188400-8190800	Weak transcription	NH-A	brain
44	chr12:8188400-8190800	Enhancers	NHDF-Ad	bronchial
45	chr12:8188400-8191000	Enhancers	Colon Smooth Muscle	Colon
46	chr12:8188400-8191200	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr12:8188400-8191200	Enhancers	Left Ventricle	heart
48	chr12:8188400-8191200	Enhancers	Right Atrium	heart
49	chr12:8188400-8191200	Genic enhancers	Dnd41	blood
50	chr12:8188400-8191200	Enhancers	K562	blood

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