Variant report

Variant	rs16912462
Chromosome Location	chr9:115949771-115949772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:115946798..115949789-chr9:116049459..116051897,2	K562	blood:
2	chr9:115947267..115950004-chr9:116171577..116173851,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148229	Chromatin interaction
ENSG00000157653	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16912528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16926788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16932273	1.00[AMR][1000 genomes]
rs56790887	1.00[EUR][1000 genomes]
rs58191876	1.00[EUR][1000 genomes]
rs62000402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7025386	1.00[EUR][1000 genomes]
rs7028375	1.00[EUR][1000 genomes]
rs7041987	1.00[EUR][1000 genomes]
rs7865322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv1035406	chr9:115883978-116003980	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540201	chr9:115883978-116003980	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115919200-115950800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr9:115919400-115950800	Strong transcription	Primary T cells from cord blood	blood
3	chr9:115919400-115954200	Strong transcription	Fetal Intestine Large	intestine
4	chr9:115920000-115950200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr9:115920000-115951400	Strong transcription	Fetal Muscle Trunk	muscle
6	chr9:115920000-115970200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:115920000-115973400	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr9:115920200-115956600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:115920400-115973400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr9:115920800-115966400	Strong transcription	Dnd41	blood
11	chr9:115920800-115975000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr9:115921800-115951000	Strong transcription	Fetal Thymus	thymus
13	chr9:115922800-115956400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr9:115923000-115956200	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr9:115923400-115976400	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr9:115923600-115953600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr9:115923800-115950600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr9:115923800-115951600	Strong transcription	HepG2	liver
19	chr9:115924000-115965800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:115924200-115969600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:115926000-115956200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr9:115926600-115951000	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr9:115927200-115953600	Strong transcription	Fetal Lung	lung
24	chr9:115927600-115973400	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr9:115927800-115951000	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr9:115929400-115951400	Strong transcription	Liver	Liver
27	chr9:115929800-115950000	Strong transcription	Primary hematopoietic stem cells	blood
28	chr9:115936000-115950000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:115936800-115982400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr9:115938000-115953000	Strong transcription	Stomach Smooth Muscle	stomach
31	chr9:115938200-115951000	Strong transcription	Rectal Smooth Muscle	rectum
32	chr9:115938400-115951000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr9:115938400-115951000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:115938400-115953200	Strong transcription	K562	blood
35	chr9:115938800-115950200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr9:115938800-115950200	Strong transcription	Left Ventricle	heart
37	chr9:115938800-115951000	Strong transcription	Fetal Muscle Leg	muscle
38	chr9:115938800-115951000	Strong transcription	Thymus	Thymus
39	chr9:115938800-115953400	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr9:115939200-115950000	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr9:115941200-115968600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr9:115941200-115969200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr9:115942000-115956400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr9:115942200-115950800	Strong transcription	Colon Smooth Muscle	Colon
45	chr9:115942200-115951000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr9:115942200-115951600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr9:115942400-115951000	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr9:115942400-115956000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr9:115942800-115950800	Strong transcription	A549	lung
50	chr9:115943000-115949800	Strong transcription	NH-A	brain

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