Variant report

Variant	rs10992649
Chromosome Location	chr9:95900745-95900746
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr9:95900595-95900935	GM12878	blood:	n/a	chr9:95900771-95900790
2	PAX5	chr9:95900446-95901122	GM12878	blood:	n/a	chr9:95900771-95900790
3	PAX5	chr9:95900607-95900917	GM12878	blood:	n/a	chr9:95900771-95900790
4	PAX5	chr9:95900639-95900924	GM12891	blood:	n/a	chr9:95900771-95900790
5	PAX5	chr9:95900533-95901010	GM12891	blood:	n/a	chr9:95900771-95900790
6	PAX5	chr9:95900653-95900887	GM12892	blood:	n/a	chr9:95900771-95900790
7	PAX5	chr9:95900504-95901007	GM12878	blood:	n/a	chr9:95900771-95900790
8	TCF12	chr9:95900577-95900776	GM12878	blood:	n/a	n/a
9	EBF1	chr9:95900499-95900866	GM12878	blood:	n/a	n/a
10	EBF1	chr9:95900741-95900863	GM12878	blood:	n/a	n/a
11	PAX5	chr9:95900602-95900897	GM12892	blood:	n/a	chr9:95900771-95900790

No.	Distal block	Cell Line	Cell type
1	chr9:95814617..95816296-chr9:95899284..95901959,2	K562	blood:
2	chr9:95897165..95898764-chr9:95898859..95901008,2	K562	blood:
3	chr9:95900207..95903204-chr9:95903529..95906753,3	MCF-7	breast:
4	chr9:95899271..95900949-chr9:95904032..95906228,2	K562	blood:

Variant related genes	Relation type
NINJ1	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10992646	1.00[ASN][1000 genomes]
rs10992647	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10992650	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10992651	1.00[ASN][1000 genomes]
rs10992654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10992656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10992657	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10992661	1.00[ASN][1000 genomes]
rs10992699	1.00[ASN][1000 genomes]
rs12000967	1.00[ASN][1000 genomes]
rs12002458	1.00[ASN][1000 genomes]
rs12005950	1.00[ASN][1000 genomes]
rs12006039	1.00[ASN][1000 genomes]
rs12552158	1.00[ASN][1000 genomes]
rs13283550	1.00[ASN][1000 genomes]
rs13289160	1.00[ASN][1000 genomes]
rs1931364	1.00[ASN][1000 genomes]
rs1936400	1.00[AFR][1000 genomes]
rs35199621	1.00[ASN][1000 genomes]
rs35566702	1.00[ASN][1000 genomes]
rs36081907	1.00[ASN][1000 genomes]
rs4743895	1.00[AFR][1000 genomes]
rs4744180	1.00[AFR][1000 genomes]
rs4744213	1.00[ASN][1000 genomes]
rs55981123	1.00[ASN][1000 genomes]
rs6479456	1.00[AFR][1000 genomes]
rs6479471	1.00[ASN][1000 genomes]
rs6479474	1.00[ASN][1000 genomes]
rs7023262	1.00[ASN][1000 genomes]
rs7026999	1.00[ASN][1000 genomes]
rs7042943	1.00[ASN][1000 genomes]
rs7848843	1.00[ASN][1000 genomes]
rs7857220	1.00[ASN][1000 genomes]
rs7866300	1.00[ASN][1000 genomes]
rs7867954	1.00[ASN][1000 genomes]
rs7875384	1.00[ASN][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	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	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
3	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
4	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
5	nsv893579	chr9:95855100-95923091	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv893581	chr9:95872216-95930334	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats 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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95897200-95901000	Enhancers	Brain Cingulate Gyrus	brain
2	chr9:95897200-95902400	Enhancers	Primary B cells from peripheral blood	blood
3	chr9:95897200-95906200	Weak transcription	Right Atrium	heart
4	chr9:95897400-95900800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr9:95897400-95901000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr9:95897400-95906200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:95897600-95904600	Weak transcription	Psoas Muscle	Psoas
8	chr9:95897600-95906000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:95897600-95906200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr9:95897800-95902600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr9:95897800-95903000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr9:95897800-95903000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr9:95897800-95903000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr9:95898000-95902400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr9:95898000-95904200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr9:95898600-95903200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:95898600-95904200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:95898600-95905600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:95898600-95906200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr9:95899000-95906200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr9:95899200-95901000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr9:95899200-95901800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr9:95899400-95900800	Enhancers	Brain Hippocampus Middle	brain
24	chr9:95899400-95901800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr9:95899400-95906200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr9:95899600-95900800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr9:95899600-95907200	Enhancers	Fetal Thymus	thymus
28	chr9:95899800-95902200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:95899800-95907400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr9:95899800-95922200	Weak transcription	Gastric	stomach
31	chr9:95900000-95901000	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr9:95900000-95901000	Enhancers	Primary B cells from cord blood	blood
33	chr9:95900000-95901200	Enhancers	HepG2	liver
34	chr9:95900000-95901800	Weak transcription	HMEC	breast
35	chr9:95900200-95900800	Enhancers	Primary T cells from cord blood	blood
36	chr9:95900200-95900800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr9:95900200-95900800	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr9:95900200-95901000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr9:95900200-95901000	Enhancers	Primary hematopoietic stem cells	blood
40	chr9:95900200-95901000	Enhancers	Spleen	Spleen
41	chr9:95900200-95901000	Enhancers	GM12878-XiMat	blood
42	chr9:95900200-95901800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr9:95900400-95900800	Enhancers	Thymus	Thymus
44	chr9:95900400-95901000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr9:95900400-95903400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr9:95900600-95900800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr9:95900600-95901200	Weak transcription	Brain Anterior Caudate	brain
48	chr9:95900600-95901800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr9:95900600-95901800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr9:95900600-95902000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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