Variant report

Variant	rs10992598
Chromosome Location	chr9:95797206-95797207
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95786796..95788401-chr9:95794963..95797802,2	MCF-7	breast:
2	chr9:95791411..95794235-chr9:95796485..95798607,3	K562	blood:
3	chr9:95789507..95791144-chr9:95796339..95798660,2	K562	blood:
4	chr9:95797004..95799082-chr9:95868699..95871377,2	K562	blood:
5	chr9:95795050..95797966-chr9:95820852..95822454,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165233	Chromatin interaction
ENSG00000127084	Chromatin interaction
ENSG00000157303	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11788432	0.86[ASN][1000 genomes]
rs13285835	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv521136	chr9:95782667-95798871	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
6	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

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95776600-95799200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:95776600-95799400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:95779600-95798400	Strong transcription	Brain Germinal Matrix	brain
4	chr9:95783600-95799000	Weak transcription	Esophagus	oesophagus
5	chr9:95791000-95800400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr9:95791200-95798800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:95791200-95799800	Strong transcription	Thymus	Thymus
8	chr9:95791400-95798600	Strong transcription	Dnd41	blood
9	chr9:95791400-95799800	Genic enhancers	Primary T cells fromperipheralblood	blood
10	chr9:95791400-95800000	Genic enhancers	Primary monocytes fromperipheralblood	blood
11	chr9:95791400-95800000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr9:95791800-95799800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
13	chr9:95792000-95797400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
14	chr9:95792000-95799200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr9:95792000-95800000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr9:95792400-95798200	Strong transcription	Fetal Brain Female	brain
17	chr9:95792800-95799000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr9:95793600-95798000	Enhancers	Fetal Muscle Leg	muscle
19	chr9:95793800-95798200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr9:95794200-95797800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr9:95794400-95800000	Weak transcription	Liver	Liver
22	chr9:95795000-95799800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
23	chr9:95795200-95799000	Strong transcription	Lung	lung
24	chr9:95795200-95800400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr9:95795200-95801400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr9:95795400-95798800	Weak transcription	Pancreas	Pancrea
27	chr9:95795600-95798200	Strong transcription	Primary T cells from cord blood	blood
28	chr9:95796000-95799000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr9:95796200-95797400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr9:95796200-95797400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr9:95796200-95798200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr9:95796200-95798800	Strong transcription	Primary B cells from peripheral blood	blood
33	chr9:95796200-95798800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr9:95796400-95797800	Strong transcription	Primary B cells from cord blood	blood
35	chr9:95796400-95798000	Weak transcription	Colonic Mucosa	Colon
36	chr9:95796400-95798000	Strong transcription	Gastric	stomach
37	chr9:95796400-95799000	Strong transcription	Fetal Thymus	thymus
38	chr9:95796400-95799400	Genic enhancers	Monocytes-CD14+_RO01746	blood
39	chr9:95796600-95799400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr9:95796600-95799400	Strong transcription	Spleen	Spleen
41	chr9:95796600-95799400	Weak transcription	GM12878-XiMat	blood
42	chr9:95796600-95800400	Weak transcription	Fetal Intestine Large	intestine
43	chr9:95796800-95797600	Strong transcription	Right Ventricle	heart
44	chr9:95796800-95798200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr9:95796800-95799400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr9:95797000-95797600	Weak transcription	Fetal Stomach	stomach
47	chr9:95797000-95798000	Weak transcription	Placenta	Placenta
48	chr9:95797000-95798200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr9:95797000-95799200	Strong transcription	Fetal Intestine Small	intestine
50	chr9:95797200-95797400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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