Variant report

Variant	rs72741049
Chromosome Location	chr9:95731694-95731695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95730012..95732538-chr9:95736889..95739219,2	K562	blood:
2	chr9:95731583..95735118-chr9:95737800..95740218,3	K562	blood:
3	chr9:95731272..95732964-chr9:95895470..95897455,2	MCF-7	breast:
4	chr9:95725342..95729207-chr9:95729946..95733070,3	K562	blood:
5	chr9:95617721..95619432-chr9:95731199..95733428,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131669	Chromatin interaction
ENSG00000127084	Chromatin interaction
ENSG00000127081	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10992543	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10992544	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10992554	1.00[AMR][1000 genomes]
rs10992556	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10992557	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10992569	0.87[EUR][1000 genomes]
rs12377272	0.91[AMR][1000 genomes]
rs12377562	0.87[EUR][1000 genomes]
rs12378192	0.91[AMR][1000 genomes]
rs12378898	0.91[AMR][1000 genomes]
rs12380201	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12380789	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7043408	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72741032	0.91[AMR][1000 genomes]
rs72741034	0.91[AMR][1000 genomes]
rs72741039	1.00[AMR][1000 genomes]
rs72741043	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72741052	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95715400-95732200	Weak transcription	Fetal Brain Female	brain
2	chr9:95725600-95734000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr9:95726800-95732200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:95728000-95732400	Weak transcription	Left Ventricle	heart
5	chr9:95728000-95733800	Weak transcription	Right Atrium	heart
6	chr9:95728200-95739600	Weak transcription	Fetal Stomach	stomach
7	chr9:95728400-95732400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr9:95728600-95732200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:95728600-95732200	Weak transcription	Brain Anterior Caudate	brain
10	chr9:95728600-95732600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr9:95728600-95733200	Genic enhancers	Spleen	Spleen
12	chr9:95728800-95732800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr9:95728800-95732800	Weak transcription	Brain Substantia Nigra	brain
14	chr9:95728800-95733600	Weak transcription	Brain Hippocampus Middle	brain
15	chr9:95728800-95733800	Genic enhancers	Primary B cells from peripheral blood	blood
16	chr9:95728800-95739400	Weak transcription	Gastric	stomach
17	chr9:95728800-95739600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr9:95728800-95740600	Weak transcription	Small Intestine	intestine
19	chr9:95729000-95731800	Weak transcription	Esophagus	oesophagus
20	chr9:95729000-95731800	Weak transcription	Lung	lung
21	chr9:95729000-95732000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:95729000-95733800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr9:95729000-95734000	Genic enhancers	Primary monocytes fromperipheralblood	blood
24	chr9:95729000-95735000	Weak transcription	Adipose Nuclei	Adipose
25	chr9:95729000-95739400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr9:95729000-95741400	Weak transcription	Right Ventricle	heart
27	chr9:95729200-95733800	Genic enhancers	Thymus	Thymus
28	chr9:95729200-95734000	Genic enhancers	Fetal Thymus	thymus
29	chr9:95729200-95739200	Weak transcription	Colonic Mucosa	Colon
30	chr9:95729400-95732200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr9:95729400-95733800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr9:95729600-95734200	Genic enhancers	Primary B cells from cord blood	blood
33	chr9:95730000-95732000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr9:95730000-95733600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr9:95730200-95732400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr9:95730200-95733000	Genic enhancers	Monocytes-CD14+_RO01746	blood
37	chr9:95730400-95733800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
38	chr9:95730600-95731800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr9:95730600-95732800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
40	chr9:95730600-95733400	Enhancers	Brain Germinal Matrix	brain
41	chr9:95730600-95733800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr9:95730800-95731800	Weak transcription	Placenta	Placenta
43	chr9:95730800-95732000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr9:95731000-95733200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr9:95731000-95733200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr9:95731000-95734000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr9:95731000-95734200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr9:95731200-95732200	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
49	chr9:95731200-95732200	Enhancers	Pancreas	Pancrea
50	chr9:95731200-95733000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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