Variant report

Variant	rs57760683
Chromosome Location	chr11:9519647-9519648
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9482211..9484127-chr11:9519335..9521778,2	K562	blood:
2	chr11:9478850..9481331-chr11:9519005..9520615,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166478	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11823865	1.00[EUR][1000 genomes]
rs11824009	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11825542	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1865560	1.00[EUR][1000 genomes]
rs34831554	1.00[EUR][1000 genomes]
rs4328248	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4414214	1.00[AMR][1000 genomes]
rs4910057	1.00[EUR][1000 genomes]
rs58608279	1.00[EUR][1000 genomes]
rs59206639	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59403069	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59432040	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60199973	1.00[EUR][1000 genomes]
rs60748041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61003414	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61708669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7107607	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7113100	1.00[EUR][1000 genomes]
rs7115224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7115556	0.84[AFR][1000 genomes]
rs7119701	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73408245	1.00[EUR][1000 genomes]
rs73408270	1.00[EUR][1000 genomes]
rs73408291	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
3	nsv1039537	chr11:9455387-9535970	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9484600-9544800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:9485200-9520000	Weak transcription	Stomach Mucosa	stomach
3	chr11:9489600-9524000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr11:9489800-9523400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr11:9491400-9525400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr11:9491400-9551600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:9492000-9527200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:9492200-9525400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:9492800-9527800	Strong transcription	Fetal Stomach	stomach
10	chr11:9495600-9525400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:9496200-9520000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:9496200-9522600	Weak transcription	Fetal Heart	heart
13	chr11:9496600-9528200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:9499200-9526000	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:9500400-9522600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:9500600-9519800	Weak transcription	A549	lung
17	chr11:9501400-9522600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:9501600-9519800	Weak transcription	Fetal Kidney	kidney
19	chr11:9501800-9534000	Weak transcription	Psoas Muscle	Psoas
20	chr11:9503000-9521000	Weak transcription	Aorta	Aorta
21	chr11:9505200-9525200	Strong transcription	Placenta	Placenta
22	chr11:9506000-9525200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr11:9506800-9525400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:9506800-9525400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr11:9507000-9523400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr11:9507200-9523400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:9507200-9525400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:9507200-9525400	Strong transcription	Adipose Nuclei	Adipose
29	chr11:9508800-9525000	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr11:9509200-9523600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:9509200-9525200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:9509200-9525200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:9509200-9525400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:9509200-9525400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:9509200-9525400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr11:9509400-9519800	Strong transcription	Liver	Liver
37	chr11:9509600-9520200	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:9510200-9520000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr11:9511400-9522600	Weak transcription	HUVEC	blood vessel
40	chr11:9511400-9524400	Strong transcription	Fetal Muscle Leg	muscle
41	chr11:9511600-9525000	Strong transcription	Ovary	ovary
42	chr11:9511600-9527800	Weak transcription	Hela-S3	cervix
43	chr11:9511600-9528200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr11:9511600-9528400	Weak transcription	NHLF	lung
45	chr11:9512200-9525200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:9512200-9525400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:9514400-9525400	Strong transcription	Primary T cells from cord blood	blood
48	chr11:9515000-9523400	Strong transcription	Primary B cells from cord blood	blood
49	chr11:9515000-9523400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr11:9515200-9520000	Strong transcription	H9 Cell Line	embryonic stem cell

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