Variant report

Variant	rs57414514
Chromosome Location	chr12:1713796-1713797
allele	A/G
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	chr12:1709780..1712426-chr12:1712979..1714739,2	K562	blood:
2	chr12:1712100..1714681-chr12:1718212..1720734,2	K562	blood:
3	chr12:1699689..1706116-chr12:1713524..1719359,13	MCF-7	breast:
4	chr12:1702465..1707367-chr12:1707740..1717720,20	K562	blood:
5	chr12:1713181..1716889-chr12:1718186..1722611,7	K562	blood:
6	chr12:1699199..1708657-chr12:1712989..1721243,16	MCF-7	breast:
7	chr12:679647..681193-chr12:1713500..1715289,2	K562	blood:
8	chr12:1713456..1716341-chr12:1722548..1725972,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111186	Chromatin interaction
ENSG00000171823	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12312620	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12317231	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13353077	0.94[ASN][1000 genomes]
rs2302029	0.94[ASN][1000 genomes]
rs56784338	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57176596	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61912253	0.84[ASN][1000 genomes]
rs7135216	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7301393	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73032603	0.84[ASN][1000 genomes]
rs73032610	0.84[ASN][1000 genomes]
rs73607812	0.94[ASN][1000 genomes]
rs73607816	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74058785	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv3397478	chr12:1535455-1730159	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv826180	chr12:1614395-1759431	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
7	nsv826181	chr12:1619798-1754941	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv898586	chr12:1690140-1734365	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv1834423	chr12:1703324-1727170	Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
11	esv3372221	chr12:1712091-1716389	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1704800-1713800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:1704800-1714000	Weak transcription	Esophagus	oesophagus
3	chr12:1704800-1714200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:1704800-1714200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:1705000-1713800	Weak transcription	HMEC	breast
6	chr12:1705200-1713800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:1705400-1713800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:1705600-1714000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:1705600-1714400	Weak transcription	Fetal Brain Female	brain
10	chr12:1706400-1714400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:1710400-1713800	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:1711000-1714200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:1711000-1714200	Weak transcription	Brain Anterior Caudate	brain
14	chr12:1711000-1714200	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:1711000-1714400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:1711000-1714600	Weak transcription	Brain Angular Gyrus	brain
17	chr12:1711200-1713800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr12:1711200-1713800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:1711200-1713800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:1711200-1714200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:1711200-1714200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:1711200-1714200	Weak transcription	Liver	Liver
23	chr12:1711200-1714200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr12:1711200-1714200	Weak transcription	Placenta	Placenta
25	chr12:1711200-1714200	Weak transcription	Ovary	ovary
26	chr12:1711200-1714200	Weak transcription	Right Atrium	heart
27	chr12:1711200-1714200	Weak transcription	Stomach Mucosa	stomach
28	chr12:1711200-1714200	Weak transcription	A549	lung
29	chr12:1711200-1714200	Enhancers	Osteobl	bone
30	chr12:1711200-1714400	Weak transcription	Fetal Intestine Large	intestine
31	chr12:1711200-1714600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:1711200-1714600	Weak transcription	Brain Substantia Nigra	brain
33	chr12:1711200-1714600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:1711400-1714200	Enhancers	NHDF-Ad	bronchial
35	chr12:1711400-1714600	Weak transcription	HUVEC	blood vessel
36	chr12:1711600-1713800	Weak transcription	Adipose Nuclei	Adipose
37	chr12:1711600-1714200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:1711600-1714200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:1711600-1714200	Weak transcription	Colonic Mucosa	Colon
40	chr12:1711600-1714200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:1711600-1714200	Weak transcription	Thymus	Thymus
42	chr12:1711600-1714400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:1711600-1714400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:1711800-1713800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:1711800-1713800	Enhancers	GM12878-XiMat	blood
46	chr12:1711800-1714200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:1711800-1714200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr12:1711800-1714200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr12:1711800-1714200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:1711800-1714200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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