Variant report

Variant	rs10897458
Chromosome Location	chr11:63651036-63651037
allele	A/T
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	MXI1	chr11:63650020-63651062	SK-N-SH	brain:	n/a	chr11:63650510-63650525
2	POLR2A	chr11:63651017-63651068	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63644143..63645756-chr11:63650897..63653554,2	MCF-7	breast:
2	chr11:63639014..63641483-chr11:63650269..63652057,2	MCF-7	breast:
3	chr11:63535711..63538179-chr11:63649382..63651942,2	K562	blood:

Variant related genes	Relation type
MARK2	TF binding region
RNU6-1306P	TF binding region
ENSG00000255651	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs11231629	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs501095	1.00[YRI][hapmap]

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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv1839119	chr11:63615554-63680052	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10897458	COX8A	cis	lymphoblastoid	seeQTL
rs10897458	HNRNPUL2	cis	parietal	SCAN
rs10897458	HRASLS3	cis	multi-tissue	Pritchard
rs10897458	SCGB2A1	cis	parietal	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63637800-63653200	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr11:63641000-63654800	Weak transcription	HepG2	liver
3	chr11:63642200-63654800	Weak transcription	Fetal Lung	lung
4	chr11:63642400-63654400	Weak transcription	Colon Smooth Muscle	Colon
5	chr11:63642400-63655000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:63643600-63655800	Weak transcription	Aorta	Aorta
7	chr11:63643800-63652400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr11:63644600-63655200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr11:63645000-63652400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr11:63645800-63654600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:63646400-63652200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr11:63646600-63652000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr11:63646600-63652600	Enhancers	Fetal Thymus	thymus
14	chr11:63646800-63652200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:63646800-63652200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr11:63647000-63651400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:63647000-63651800	Enhancers	Thymus	Thymus
18	chr11:63647000-63652000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr11:63647400-63652000	Enhancers	Primary hematopoietic stem cells	blood
20	chr11:63647600-63651200	Strong transcription	Fetal Intestine Small	intestine
21	chr11:63647600-63651600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:63647600-63654200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:63647600-63654400	Weak transcription	Liver	Liver
24	chr11:63648000-63654200	Weak transcription	A549	lung
25	chr11:63648000-63654400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr11:63648200-63652000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr11:63648200-63653800	Weak transcription	K562	blood
28	chr11:63648200-63654400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:63648200-63654600	Weak transcription	HMEC	breast
30	chr11:63648200-63654800	Weak transcription	NHEK	skin
31	chr11:63648400-63651400	Weak transcription	Colonic Mucosa	Colon
32	chr11:63648400-63651600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:63648400-63651800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:63648400-63652400	Enhancers	Brain Anterior Caudate	brain
35	chr11:63648400-63654400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:63648400-63654400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr11:63648400-63654400	Weak transcription	Small Intestine	intestine
38	chr11:63648400-63654600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:63648400-63654600	Weak transcription	Osteobl	bone
40	chr11:63648400-63654800	Weak transcription	HSMM	muscle
41	chr11:63648400-63655000	Weak transcription	Hela-S3	cervix
42	chr11:63648400-63655000	Weak transcription	NH-A	brain
43	chr11:63648400-63655200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:63648600-63655000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:63648800-63651600	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr11:63648800-63651800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr11:63649000-63651400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr11:63649200-63654400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:63649400-63651800	Enhancers	Primary B cells from peripheral blood	blood
50	chr11:63649400-63652000	Enhancers	H1 Cell Line	embryonic stem cell

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