Variant report

Variant	rs184741234
Chromosome Location	chr12:12025848-12025849
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:62608627..62609481-chr12:12025415..12025915,2	NB4	blood:

Variant related genes	Relation type
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv516796	chr12:12013985-12027745	Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3480297	chr12:12024485-12028983	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3506269	chr12:12025185-12028783	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3480319	chr12:12025310-12028558	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv557576	chr12:12025363-12026937	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv1850811	chr12:12025363-12027745	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv557577	chr12:12025363-12030052	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11987600-12038000	Weak transcription	Hela-S3	cervix
2	chr12:12009400-12030800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:12014600-12030600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:12014600-12030800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:12017200-12030600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:12017200-12030800	Weak transcription	NHDF-Ad	bronchial
7	chr12:12018000-12028400	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:12018800-12027200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr12:12019000-12026400	Strong transcription	Fetal Thymus	thymus
10	chr12:12019400-12027000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:12019600-12026800	Strong transcription	Primary B cells from cord blood	blood
12	chr12:12019600-12028000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:12019600-12028200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:12019600-12028200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:12019600-12028200	Weak transcription	Stomach Mucosa	stomach
16	chr12:12019600-12030600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:12019600-12030600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:12019800-12026800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr12:12019800-12026800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:12019800-12027000	Strong transcription	Liver	Liver
21	chr12:12019800-12027200	Strong transcription	GM12878-XiMat	blood
22	chr12:12019800-12030400	Weak transcription	Fetal Heart	heart
23	chr12:12019800-12031200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:12020000-12026000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr12:12020000-12028200	Weak transcription	Psoas Muscle	Psoas
26	chr12:12020000-12028400	Weak transcription	Brain Anterior Caudate	brain
27	chr12:12020000-12031000	Weak transcription	HepG2	liver
28	chr12:12020000-12037400	Weak transcription	Fetal Brain Female	brain
29	chr12:12020200-12028200	Weak transcription	A549	lung
30	chr12:12020200-12039600	Weak transcription	Fetal Kidney	kidney
31	chr12:12020400-12026000	Strong transcription	Fetal Stomach	stomach
32	chr12:12020400-12027200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:12020400-12027200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:12020600-12026400	Strong transcription	Fetal Intestine Large	intestine
35	chr12:12021000-12026600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:12021200-12026000	Strong transcription	Fetal Intestine Small	intestine
37	chr12:12021400-12026200	Weak transcription	HMEC	breast
38	chr12:12021400-12030600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:12021600-12026000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:12022000-12026000	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:12022000-12026400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:12022200-12026000	Strong transcription	Colonic Mucosa	Colon
43	chr12:12022200-12026000	Strong transcription	Osteobl	bone
44	chr12:12022200-12026200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:12022200-12026400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr12:12022600-12026400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:12022600-12028200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:12022800-12029600	Weak transcription	Brain Germinal Matrix	brain
49	chr12:12023000-12030200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:12023000-12030800	Weak transcription	Ovary	ovary

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