Variant report

Variant	rs16931532
Chromosome Location	chr12:4650244-4650245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:4647147..4649763-chr12:4649895..4651987,2	MCF-7	breast:
2	chr12:4645218..4647616-chr12:4650193..4651787,2	K562	blood:
3	chr12:4648277..4650261-chr12:4658631..4661516,2	K562	blood:

Variant related genes	Relation type
ENSG00000111247	Chromatin interaction
ENSG00000047621	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16931503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4766251	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1038332	chr12:4627992-4689300	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer 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	8 gene(s)	inside rSNPs	diseases
3	nsv541362	chr12:4627992-4689300	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4648400-4653400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:4648400-4670200	Weak transcription	Left Ventricle	heart
3	chr12:4648400-4671200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:4648400-4671400	Weak transcription	Esophagus	oesophagus
5	chr12:4648600-4671200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:4648800-4654000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:4648800-4655000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:4648800-4659600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:4648800-4664800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:4648800-4669600	Weak transcription	Fetal Brain Male	brain
11	chr12:4648800-4670800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:4648800-4671000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:4649000-4650400	Enhancers	Primary hematopoietic stem cells	blood
14	chr12:4649000-4650400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:4649000-4651200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr12:4649000-4657800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:4649000-4664600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:4649000-4666000	Weak transcription	Placenta	Placenta
19	chr12:4649000-4671000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:4649000-4671000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr12:4649000-4671000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:4649000-4671200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:4649200-4650400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:4649200-4650600	Transcr. at gene 5' and 3'	Dnd41	blood
25	chr12:4649200-4657400	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:4649200-4657600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:4649200-4657600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:4649200-4657800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:4649200-4663200	Weak transcription	Fetal Brain Female	brain
30	chr12:4649200-4670800	Weak transcription	Fetal Intestine Small	intestine
31	chr12:4649400-4650400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:4649400-4651000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr12:4649400-4653200	Weak transcription	NH-A	brain
34	chr12:4649400-4657000	Weak transcription	Fetal Intestine Large	intestine
35	chr12:4649400-4657400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:4649400-4657400	Weak transcription	Thymus	Thymus
37	chr12:4649400-4658200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:4649400-4661600	Weak transcription	Fetal Lung	lung
39	chr12:4649400-4671000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr12:4649400-4671000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:4649400-4671000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr12:4649600-4650400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:4649600-4650400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:4649600-4651000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:4649600-4651000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr12:4649600-4651200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:4649600-4651400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr12:4649600-4651400	Weak transcription	A549	lung
49	chr12:4649600-4651400	Weak transcription	HSMM	muscle
50	chr12:4649600-4651800	Weak transcription	Primary monocytes fromperipheralblood	blood

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