Variant report

Variant	rs72851668
Chromosome Location	chr11:10337242-10337243
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	RFX5	chr11:10335381-10337396	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:10335615..10338185-chr11:10340007..10342257,2	MCF-7	breast:
2	chr11:10329722..10333175-chr11:10334225..10337979,4	MCF-7	breast:
3	chr11:10334729..10337500-chr11:10337749..10339645,2	K562	blood:

Variant related genes	Relation type
AMPD3	TF binding region
ENSG00000133805	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11822548	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824642	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17294511	1.00[AFR][1000 genomes]
rs17295800	0.80[AMR][1000 genomes]
rs17295954	0.80[AMR][1000 genomes]
rs17361849	0.80[AMR][1000 genomes]
rs17368443	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17368498	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1806908	1.00[ASN][1000 genomes]
rs2015150	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920154	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55650476	0.80[AMR][1000 genomes]
rs55678570	0.80[AMR][1000 genomes]
rs55771749	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55868496	0.80[AMR][1000 genomes]
rs56262739	0.87[ASN][1000 genomes]
rs56726683	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57189777	1.00[ASN][1000 genomes]
rs59235070	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60502169	1.00[ASN][1000 genomes]
rs60743731	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850426	0.80[AMR][1000 genomes]
rs72850434	0.80[AMR][1000 genomes]
rs72850453	0.80[AMR][1000 genomes]
rs72850480	0.80[AMR][1000 genomes]
rs72851606	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72851620	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72851647	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851667	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852806	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852812	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72852835	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72852843	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10330200-10338600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr11:10330800-10339400	Weak transcription	Psoas Muscle	Psoas
3	chr11:10330800-10344400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr11:10331000-10340000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:10331000-10340000	Weak transcription	Spleen	Spleen
6	chr11:10331200-10338600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:10331200-10338600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:10331400-10343800	Weak transcription	NHLF	lung
9	chr11:10331800-10338400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:10331800-10338600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:10331800-10339000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:10331800-10344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:10332200-10338400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr11:10332200-10338600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:10332200-10338600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:10332200-10338600	Weak transcription	Left Ventricle	heart
17	chr11:10332400-10338400	Weak transcription	Fetal Thymus	thymus
18	chr11:10332400-10338600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:10332400-10338600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr11:10332400-10338600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:10332400-10338600	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:10332400-10338600	Weak transcription	Ovary	ovary
23	chr11:10332400-10340000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:10332400-10340000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:10336000-10337800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:10336200-10337800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:10336200-10338400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:10336400-10338600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:10336400-10338600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:10336400-10338600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:10336400-10339200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr11:10336400-10343400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr11:10336400-10344000	Weak transcription	Osteobl	bone
34	chr11:10336600-10337800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:10336600-10338200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:10336600-10338400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:10336600-10338400	Weak transcription	Adipose Nuclei	Adipose
38	chr11:10336600-10338400	Enhancers	GM12878-XiMat	blood
39	chr11:10336600-10338600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr11:10336600-10338600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:10336600-10338600	Weak transcription	Brain Anterior Caudate	brain
42	chr11:10336600-10338600	Weak transcription	A549	lung
43	chr11:10336600-10338600	Weak transcription	HepG2	liver
44	chr11:10336600-10339000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:10336600-10340000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:10336600-10343200	Weak transcription	Stomach Mucosa	stomach
47	chr11:10337000-10338600	Weak transcription	Small Intestine	intestine
48	chr11:10337000-10339800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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