Variant report

Variant	rs12380789
Chromosome Location	chr9:95751917-95751918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:95749653..95752531-chr9:95761934..95764790,2	MCF-7	breast:
2	chr9:95750295..95753959-chr9:95856034..95859427,4	MCF-7	breast:
3	chr9:95750988..95753195-chr9:95764358..95766231,2	MCF-7	breast:
4	chr9:95735773..95738938-chr9:95746079..95753670,13	MCF-7	breast:
5	chr9:95751099..95753826-chr9:95754095..95756433,2	MCF-7	breast:
6	chr9:95744507..95747360-chr9:95750258..95753715,3	MCF-7	breast:
7	chr9:95746898..95754225-chr9:95890814..95897960,9	MCF-7	breast:
8	chr9:95751115..95753216-chr9:95762074..95764043,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000223446	Chromatin interaction
ENSG00000131669	Chromatin interaction
ENSG00000165233	Chromatin interaction
ENSG00000127084	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10992557	0.84[AFR][1000 genomes]
rs10992569	1.00[EUR][1000 genomes]
rs10992576	0.83[EUR][1000 genomes]
rs10992577	0.93[EUR][1000 genomes]
rs10992578	0.93[EUR][1000 genomes]
rs10992579	0.93[EUR][1000 genomes]
rs10992580	0.93[EUR][1000 genomes]
rs10992584	0.90[EUR][1000 genomes]
rs10992586	0.90[EUR][1000 genomes]
rs10992587	0.90[EUR][1000 genomes]
rs10992588	0.90[EUR][1000 genomes]
rs10992599	0.90[EUR][1000 genomes]
rs12377562	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12380201	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12380291	0.90[EUR][1000 genomes]
rs41273404	0.87[EUR][1000 genomes]
rs55654224	0.90[EUR][1000 genomes]
rs7043408	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72741049	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72741052	1.00[EUR][1000 genomes]
rs72741055	0.93[EUR][1000 genomes]
rs72741057	0.93[EUR][1000 genomes]
rs72741060	0.90[EUR][1000 genomes]
rs72741063	0.90[EUR][1000 genomes]
rs9696630	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95735400-95752600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
2	chr9:95740000-95754800	Weak transcription	Gastric	stomach
3	chr9:95740000-95754800	Weak transcription	Pancreas	Pancrea
4	chr9:95745800-95753200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr9:95746400-95752600	Genic enhancers	Primary T cells from cord blood	blood
6	chr9:95746600-95752000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr9:95747000-95752200	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr9:95747200-95752600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr9:95747800-95754600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr9:95748200-95756000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
11	chr9:95749000-95752800	Enhancers	HepG2	liver
12	chr9:95749200-95752000	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr9:95749200-95755600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr9:95750000-95752000	Enhancers	NHEK	skin
15	chr9:95750000-95753000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr9:95750200-95754800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:95750400-95752000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:95750400-95752000	Enhancers	Hela-S3	cervix
19	chr9:95750600-95752800	Enhancers	Thymus	Thymus
20	chr9:95750600-95753200	Strong transcription	Primary B cells from peripheral blood	blood
21	chr9:95750600-95754400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr9:95750600-95754800	Weak transcription	Spleen	Spleen
23	chr9:95750600-95755000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr9:95750800-95752200	Enhancers	Primary hematopoietic stem cells	blood
25	chr9:95750800-95753200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr9:95750800-95754600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr9:95750800-95754600	Weak transcription	GM12878-XiMat	blood
28	chr9:95750800-95754800	Weak transcription	Lung	lung
29	chr9:95751200-95752400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr9:95751200-95752400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr9:95751200-95752600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:95751200-95752600	Enhancers	Fetal Thymus	thymus
33	chr9:95751200-95752800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr9:95751200-95754600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr9:95751200-95755000	Weak transcription	Esophagus	oesophagus
36	chr9:95751400-95752400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr9:95751400-95752600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr9:95751400-95753400	Weak transcription	Primary B cells from cord blood	blood
39	chr9:95751400-95754200	Weak transcription	Dnd41	blood
40	chr9:95751400-95754400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr9:95751600-95752400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr9:95751600-95752400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr9:95751600-95753400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr9:95751600-95754600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr9:95751800-95752200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr9:95751800-95752200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr9:95751800-95753200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr9:95751800-95754800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr9:95751800-95755600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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