Variant report

Variant	rs146238274
Chromosome Location	chr12:1611607-1611608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1609960..1612455-chr12:1612690..1615017,2	K562	blood:
2	chr12:1603741..1607368-chr12:1607408..1611728,5	K562	blood:
3	chr12:1611483..1613501-chr12:1625253..1627123,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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	nsv1045278	chr12:920251-1697030	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers 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	46 gene(s)	inside rSNPs	diseases
2	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
3	nsv1046134	chr12:1153489-1675223	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv541344	chr12:1153489-1675223	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active 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	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
6	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
7	nsv1054178	chr12:1372157-1682699	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv541347	chr12:1372157-1682699	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	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
10	nsv1049247	chr12:1566534-1671806	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1049391	chr12:1589463-1622803	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS 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	7 gene(s)	inside rSNPs	diseases
12	nsv1051478	chr12:1590503-1626412	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv556950	chr12:1603428-1638868	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	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
15	nsv1039629	chr12:1608565-1681391	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv541349	chr12:1608565-1681391	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv973947	chr12:1610077-1616803	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv975603	chr12:1611168-1616803	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1600800-1612600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:1600800-1613600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:1602200-1613800	Weak transcription	Primary B cells from cord blood	blood
4	chr12:1604800-1613400	Weak transcription	Primary T cells from cord blood	blood
5	chr12:1605000-1611800	Weak transcription	Fetal Intestine Small	intestine
6	chr12:1606200-1611800	Weak transcription	NHEK	skin
7	chr12:1607200-1611800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:1607200-1613800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:1608400-1613000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr12:1608800-1618600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:1609400-1612200	Enhancers	Fetal Muscle Leg	muscle
12	chr12:1609600-1611800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:1609600-1613400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:1609800-1612400	Weak transcription	Esophagus	oesophagus
15	chr12:1609800-1613400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr12:1609800-1613600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:1610000-1611800	Enhancers	HSMM	muscle
18	chr12:1610000-1612400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:1610000-1613800	Weak transcription	Placenta	Placenta
20	chr12:1610200-1612200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr12:1610200-1612400	Enhancers	Adipose Nuclei	Adipose
22	chr12:1610200-1613000	Enhancers	HSMMtube	muscle
23	chr12:1610400-1615000	Weak transcription	K562	blood
24	chr12:1610600-1612000	Enhancers	Brain Substantia Nigra	brain
25	chr12:1610800-1611800	Enhancers	Stomach Smooth Muscle	stomach
26	chr12:1610800-1612800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr12:1611000-1611800	Enhancers	Colon Smooth Muscle	Colon
28	chr12:1611000-1612400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr12:1611000-1612400	Enhancers	Fetal Lung	lung
30	chr12:1611000-1612400	Enhancers	A549	lung
31	chr12:1611000-1612600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:1611200-1611800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:1611200-1611800	Enhancers	NHLF	lung
34	chr12:1611200-1612200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:1611200-1612200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:1611200-1612200	Enhancers	Brain Germinal Matrix	brain
37	chr12:1611200-1612200	Weak transcription	Spleen	Spleen
38	chr12:1611200-1612400	Enhancers	Rectal Smooth Muscle	rectum
39	chr12:1611200-1612600	Enhancers	Fetal Stomach	stomach
40	chr12:1611200-1612800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:1611200-1612800	Enhancers	Colonic Mucosa	Colon
42	chr12:1611400-1611800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:1611400-1611800	Enhancers	Fetal Brain Female	brain
44	chr12:1611400-1612400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr12:1611400-1612400	Enhancers	Brain Anterior Caudate	brain
46	chr12:1611400-1612400	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr12:1611600-1612200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:1611600-1612200	Enhancers	Fetal Brain Male	brain
49	chr12:1611600-1612200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr12:1611600-1612600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle

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