Variant report

Variant	rs45625436
Chromosome Location	chr11:66636163-66636164
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66632881..66640228-chr11:66642679..66650860,16	MCF-7	breast:
2	chr11:66383753..66386035-chr11:66634540..66637349,2	MCF-7	breast:
3	chr11:66634682..66638253-chr11:66640416..66642598,5	MCF-7	breast:
4	chr11:66634862..66637174-chr11:66752429..66754101,2	K562	blood:
5	chr11:66383908..66386111-chr11:66634785..66638711,3	MCF-7	breast:
6	chr11:66461910..66462736-chr11:66635960..66636772,3	K562	blood:
7	chr11:66634984..66637199-chr11:66730841..66732488,2	K562	blood:
8	chr11:66246349..66248203-chr11:66635181..66637860,2	MCF-7	breast:
9	chr11:66635866..66636700-chr11:66838843..66839399,2	K562	blood:
10	chr11:66633380..66638665-chr11:66646589..66650033,7	MCF-7	breast:
11	chr11:66635068..66638065-chr11:67082602..67085288,2	K562	blood:
12	chr11:66634122..66636526-chr11:66637181..66639294,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255517	Chromatin interaction
ENSG00000254986	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000239306	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs479261	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs575797	1.00[AFR][1000 genomes]
rs60084486	1.00[AFR][1000 genomes]
rs623022	1.00[AFR][1000 genomes]
rs645307	1.00[AFR][1000 genomes]
rs744465	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]

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	nsv508638	chr11:66541653-66643634	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv897795	chr11:66608521-66637926	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv832194	chr11:66634462-66805980	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66624200-66645000	Weak transcription	Fetal Kidney	kidney
2	chr11:66624400-66637400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:66624400-66640200	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:66624800-66637400	Weak transcription	Aorta	Aorta
5	chr11:66625000-66636200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr11:66625000-66648800	Weak transcription	Right Atrium	heart
7	chr11:66625400-66642200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:66625400-66642200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:66625400-66645400	Weak transcription	Fetal Lung	lung
10	chr11:66625400-66645800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:66625400-66648000	Weak transcription	Left Ventricle	heart
12	chr11:66625400-66650600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:66625600-66636200	Strong transcription	Fetal Intestine Small	intestine
14	chr11:66625800-66636200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:66625800-66636400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:66625800-66650800	Weak transcription	Osteobl	bone
17	chr11:66627000-66636400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:66627000-66643000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:66627400-66636400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:66627400-66636400	Weak transcription	Stomach Mucosa	stomach
21	chr11:66627400-66637000	Weak transcription	Lung	lung
22	chr11:66627400-66637200	Weak transcription	Ovary	ovary
23	chr11:66627400-66638200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:66627400-66642400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:66627800-66650000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:66628000-66637000	Weak transcription	Right Ventricle	heart
27	chr11:66628600-66636400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:66628800-66636200	Weak transcription	Thymus	Thymus
29	chr11:66629800-66636400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:66629800-66645600	Weak transcription	Pancreas	Pancrea
31	chr11:66630000-66636800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:66630200-66637000	Weak transcription	Dnd41	blood
33	chr11:66630200-66645600	Weak transcription	NHLF	lung
34	chr11:66631400-66636400	Weak transcription	HMEC	breast
35	chr11:66631400-66639800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:66631600-66636200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:66631600-66636400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr11:66631600-66637400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:66631800-66637600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:66631800-66637600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:66632000-66636400	Weak transcription	Brain Substantia Nigra	brain
42	chr11:66632200-66636800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:66632200-66637000	Weak transcription	Esophagus	oesophagus
44	chr11:66632400-66636200	Weak transcription	Spleen	Spleen
45	chr11:66632400-66636400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:66633000-66636400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr11:66633200-66636200	Strong transcription	Hela-S3	cervix
48	chr11:66633200-66636400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:66633600-66636200	Weak transcription	Placenta	Placenta
50	chr11:66633600-66648000	Weak transcription	Psoas Muscle	Psoas

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