Variant report

Variant	rs73555259
Chromosome Location	chr11:93875111-93875112
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93867029..93870976-chr11:93873101..93877852,6	K562	blood:
2	chr11:93861895..93865118-chr11:93874866..93877940,3	K562	blood:
3	chr11:93874386..93876238-chr11:93877234..93879680,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110218	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11822030	1.00[AMR][1000 genomes]
rs11825559	1.00[AMR][1000 genomes]
rs11826118	1.00[AMR][1000 genomes]
rs11826223	1.00[AMR][1000 genomes]
rs16919972	1.00[AMR][1000 genomes]
rs59912573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60464761	1.00[AMR][1000 genomes]
rs60818592	1.00[AMR][1000 genomes]
rs73512239	1.00[AMR][1000 genomes]
rs73512242	1.00[AMR][1000 genomes]
rs73512245	1.00[AMR][1000 genomes]
rs73512246	1.00[AMR][1000 genomes]
rs73512249	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73512253	1.00[AMR][1000 genomes]
rs73512254	1.00[AMR][1000 genomes]
rs73512255	1.00[AMR][1000 genomes]
rs73512256	1.00[AMR][1000 genomes]
rs73512257	1.00[AMR][1000 genomes]
rs73512258	1.00[AMR][1000 genomes]
rs73512260	1.00[AMR][1000 genomes]
rs73525500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73555258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73555263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1046092	chr11:93833446-93964452	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv508651	chr11:93834300-93880470	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv898185	chr11:93851048-93927529	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv469980	chr11:93864321-93962121	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv468795	chr11:93864321-93964917	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv555966	chr11:93864321-93964917	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv517664	chr11:93866147-93913036	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93864000-93879800	Weak transcription	Primary T cells from cord blood	blood
2	chr11:93865400-93881600	Weak transcription	Fetal Intestine Small	intestine
3	chr11:93865600-93875200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:93867000-93879800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr11:93867200-93875200	Weak transcription	Esophagus	oesophagus
6	chr11:93867200-93882000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:93867600-93880000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:93868200-93875400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:93868200-93886600	Weak transcription	Fetal Brain Female	brain
10	chr11:93868400-93875200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:93868400-93880600	Weak transcription	Fetal Thymus	thymus
12	chr11:93868600-93879400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:93868800-93881000	Weak transcription	Fetal Intestine Large	intestine
14	chr11:93868800-93883800	Weak transcription	Primary B cells from cord blood	blood
15	chr11:93869000-93875400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:93869000-93877400	Weak transcription	Liver	Liver
17	chr11:93869400-93875200	Weak transcription	Aorta	Aorta
18	chr11:93869400-93877600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr11:93869600-93875200	Weak transcription	Fetal Lung	lung
20	chr11:93869600-93875400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:93870200-93879200	Weak transcription	Dnd41	blood
22	chr11:93870200-93879600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr11:93870600-93875200	Weak transcription	HSMM	muscle
24	chr11:93870600-93881000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:93870800-93875200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr11:93870800-93875400	Weak transcription	HSMMtube	muscle
27	chr11:93870800-93877000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:93870800-93879600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:93871200-93876400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr11:93871400-93876200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr11:93872200-93875200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:93872200-93876800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr11:93872800-93875800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:93872800-93876400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr11:93872800-93876400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr11:93873000-93875200	Weak transcription	Right Atrium	heart
37	chr11:93873200-93875400	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr11:93873400-93875200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:93873400-93875600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:93873400-93875800	Enhancers	HMEC	breast
41	chr11:93873400-93876800	Enhancers	HUVEC	blood vessel
42	chr11:93873600-93875200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr11:93873600-93875200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr11:93873600-93876600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr11:93873600-93876800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:93873600-93878200	Enhancers	NHEK	skin
47	chr11:93873600-93878600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:93873800-93879400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:93873800-93882200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr11:93873800-93887200	Weak transcription	Rectal Mucosa Donor 29	rectum

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