Variant report

Variant	rs375013084
Chromosome Location	chr12:1745868-1745869
allele	-/GTTTT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1738742..1741489-chr12:1743344..1746284,2	K562	blood:
2	chr12:1745580..1751053-chr12:1752530..1755627,4	K562	blood:

Variant related genes	Relation type
ENSG00000111186	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	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
2	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
3	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
4	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
5	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
6	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
7	nsv898587	chr12:1732295-1756642	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv898588	chr12:1736314-1755960	Bivalent Enhancer Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv898589	chr12:1738111-1755654	Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv898590	chr12:1740171-1757743	Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	nsv898591	chr12:1745208-1755960	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1739800-1753800	Weak transcription	Esophagus	oesophagus
2	chr12:1740000-1748800	Weak transcription	Pancreas	Pancrea
3	chr12:1740000-1749000	Weak transcription	Ovary	ovary
4	chr12:1740600-1748800	Weak transcription	Gastric	stomach
5	chr12:1740600-1753400	Strong transcription	Osteobl	bone
6	chr12:1740600-1755000	Weak transcription	Spleen	Spleen
7	chr12:1740800-1747200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:1740800-1751000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:1740800-1753200	Weak transcription	NH-A	brain
10	chr12:1740800-1753600	Weak transcription	Placenta	Placenta
11	chr12:1740800-1757400	Weak transcription	GM12878-XiMat	blood
12	chr12:1741000-1749200	Weak transcription	HSMMtube	muscle
13	chr12:1741400-1752800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:1741800-1746000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:1742000-1753400	Weak transcription	NHEK	skin
16	chr12:1742200-1749400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:1742400-1747400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:1742800-1747000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:1743000-1749400	Weak transcription	Fetal Lung	lung
20	chr12:1743600-1759000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:1743800-1749400	Weak transcription	Stomach Mucosa	stomach
22	chr12:1744000-1749200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:1744000-1753000	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:1744000-1753200	Weak transcription	Colonic Mucosa	Colon
25	chr12:1744200-1746000	Strong transcription	HSMM	muscle
26	chr12:1744200-1749000	Weak transcription	Fetal Intestine Small	intestine
27	chr12:1744200-1751600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr12:1744200-1753400	Weak transcription	Adipose Nuclei	Adipose
29	chr12:1744400-1747000	Strong transcription	Fetal Muscle Leg	muscle
30	chr12:1744400-1747200	Weak transcription	Fetal Heart	heart
31	chr12:1744400-1747200	Weak transcription	K562	blood
32	chr12:1744400-1748600	Weak transcription	Fetal Brain Male	brain
33	chr12:1744400-1752000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:1744400-1753000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:1744400-1753200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:1744400-1753200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:1744400-1759000	Weak transcription	Right Ventricle	heart
38	chr12:1744600-1753000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:1744600-1753000	Weak transcription	Brain Substantia Nigra	brain
40	chr12:1744600-1758000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:1745000-1746200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:1745000-1748400	Weak transcription	Fetal Stomach	stomach
43	chr12:1745000-1748600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:1745000-1748600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:1745000-1748800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:1745000-1749000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:1745000-1749200	Weak transcription	Fetal Brain Female	brain
48	chr12:1745000-1749600	Weak transcription	Brain Anterior Caudate	brain
49	chr12:1745000-1749800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr12:1745000-1751400	Weak transcription	Rectal Mucosa Donor 29	rectum

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