Variant report

Variant	rs60845282
Chromosome Location	chr11:58914827-58914828
allele	A/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	MEF2A	chr11:58914785-58915381	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:58914597-58914950	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:58408491..58410275-chr11:58912566..58915086,2	K562	blood:
2	chr11:58345634..58347329-chr11:58913905..58915748,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255381	TF binding region
ENSG00000245571	TF binding region
FAM111A	TF binding region
ENSG00000110031	Chromatin interaction
ENSG00000186660	Chromatin interaction
ENSG00000255073	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs2096585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2844343	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519287	1.00[AMR][1000 genomes]
rs56963795	1.00[AMR][1000 genomes]
rs58024146	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58355571	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58599185	1.00[AMR][1000 genomes]
rs61149043	1.00[AMR][1000 genomes]
rs61178453	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474706	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73476916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73476930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73476938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73476939	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73483100	1.00[AMR][1000 genomes]
rs73485212	1.00[AMR][1000 genomes]
rs73485235	1.00[AMR][1000 genomes]
rs73487315	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487322	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487327	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487334	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489468	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489478	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489480	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489486	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489493	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489497	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491319	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491327	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription 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	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers 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	59 gene(s)	inside rSNPs	diseases
3	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv430388	chr11:58769524-58925824	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58912600-58915000	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr11:58912800-58915200	Enhancers	Primary B cells from peripheral blood	blood
3	chr11:58912800-58916400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:58912800-58919400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:58912800-58919400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:58912800-58921400	Weak transcription	Esophagus	oesophagus
7	chr11:58912800-58924000	Weak transcription	Gastric	stomach
8	chr11:58912800-58924200	Weak transcription	Aorta	Aorta
9	chr11:58912800-58925800	Weak transcription	Ovary	ovary
10	chr11:58913000-58915600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:58913000-58915600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr11:58913000-58915800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:58913000-58915800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:58913000-58915800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:58913000-58916200	Weak transcription	Placenta	Placenta
16	chr11:58913000-58916200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:58913000-58919200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:58913000-58919400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:58913000-58919400	Weak transcription	Colonic Mucosa	Colon
20	chr11:58913000-58922000	Weak transcription	Psoas Muscle	Psoas
21	chr11:58913000-58922600	Weak transcription	Small Intestine	intestine
22	chr11:58913000-58924600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr11:58913000-58925800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:58913200-58915800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:58913200-58916200	Weak transcription	Liver	Liver
26	chr11:58913200-58916600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:58913200-58916600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr11:58913200-58917600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:58913200-58918200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr11:58913200-58918800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr11:58913200-58919200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:58913200-58919200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:58913200-58921200	Weak transcription	Colon Smooth Muscle	Colon
34	chr11:58913200-58922200	Weak transcription	Fetal Stomach	stomach
35	chr11:58913200-58924400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:58913200-58925600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr11:58913200-58925600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr11:58913200-58925800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:58913200-58925800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr11:58913200-58925800	Weak transcription	Brain Anterior Caudate	brain
41	chr11:58913400-58915800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr11:58913400-58916000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:58913400-58916000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr11:58913400-58916000	Weak transcription	Primary T cells from cord blood	blood
45	chr11:58913400-58916000	Weak transcription	Fetal Intestine Large	intestine
46	chr11:58913400-58916400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:58913400-58916400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:58913400-58916600	Weak transcription	Fetal Kidney	kidney
49	chr11:58913400-58916800	Weak transcription	A549	lung
50	chr11:58913400-58919200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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