Variant report

Variant	rs12344304
Chromosome Location	chr9:95818935-95818936
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95818120..95822805-chr9:95894646..95898384,4	K562	blood:
2	chr9:95818455..95825266-chr9:95831322..95836031,9	K562	blood:
3	chr9:95816364..95826268-chr9:95852309..95863275,20	MCF-7	breast:
4	chr9:95818697..95822651-chr9:95855885..95860349,6	MCF-7	breast:
5	chr9:95817800..95819873-chr9:95833973..95836077,2	MCF-7	breast:
6	chr9:95818234..95820974-chr9:96339140..96341685,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223446	Chromatin interaction
ENSG00000165233	Chromatin interaction
ENSG00000131669	Chromatin interaction
ENSG00000157303	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10115063	1.00[AMR][1000 genomes]
rs10116083	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10122591	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12335489	1.00[AMR][1000 genomes]
rs12349778	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer 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 target site	30 gene(s)	inside rSNPs	diseases
2	nsv1054767	chr9:95738134-95875977	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1035230	chr9:95770249-95934982	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv893575	chr9:95781040-95854013	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	esv1824329	chr9:95811604-95921347	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv893577	chr9:95812707-95872216	Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv893578	chr9:95818641-95887320	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95812000-95821000	Weak transcription	Gastric	stomach
2	chr9:95812800-95820400	Weak transcription	Placenta	Placenta
3	chr9:95814400-95821000	Weak transcription	Pancreas	Pancrea
4	chr9:95814600-95820400	Weak transcription	Right Ventricle	heart
5	chr9:95814600-95820800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr9:95814800-95820400	Weak transcription	Liver	Liver
7	chr9:95814800-95820600	Weak transcription	Colon Smooth Muscle	Colon
8	chr9:95814800-95820600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr9:95815000-95821000	Weak transcription	Aorta	Aorta
10	chr9:95815400-95820000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr9:95815600-95820600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr9:95816200-95819200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr9:95816200-95819200	Weak transcription	Thymus	Thymus
14	chr9:95816400-95819400	Weak transcription	Fetal Stomach	stomach
15	chr9:95816400-95820200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:95816400-95820600	Weak transcription	Lung	lung
17	chr9:95816400-95820800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:95816600-95819000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:95816600-95819200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr9:95816600-95819200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr9:95816600-95819600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:95817400-95819400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr9:95817400-95819600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr9:95817400-95819800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr9:95817400-95820000	Weak transcription	Primary B cells from cord blood	blood
26	chr9:95817400-95820200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr9:95817400-95820200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr9:95817400-95820200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr9:95817400-95820600	Weak transcription	Fetal Lung	lung
30	chr9:95817400-95821000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr9:95817600-95819200	Weak transcription	Fetal Thymus	thymus
32	chr9:95817600-95819400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr9:95817600-95819400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr9:95817600-95820000	Weak transcription	Primary T cells from cord blood	blood
35	chr9:95817600-95820200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr9:95817800-95819600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr9:95818000-95819400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:95818000-95819400	Weak transcription	Ovary	ovary
39	chr9:95818000-95819600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr9:95818000-95819800	Weak transcription	Spleen	Spleen
41	chr9:95818000-95820600	Weak transcription	Adipose Nuclei	Adipose
42	chr9:95818000-95820600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr9:95818200-95819200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr9:95818200-95819400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr9:95818400-95819400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr9:95818400-95820600	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr9:95818400-95821000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr9:95818600-95819000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr9:95818800-95819200	Weak transcription	Primary T cells fromperipheralblood	blood

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