Variant report

Variant	rs28441671
Chromosome Location	chr11:66255183-66255184
allele	G/T
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	POLR2A	chr11:66255046-66255198	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66245983..66252638-chr11:66253022..66262739,17	MCF-7	breast:
2	chr11:66253352..66256164-chr11:66257074..66258893,2	K562	blood:
3	chr11:66243353..66245736-chr11:66254515..66256675,2	MCF-7	breast:

Variant related genes	Relation type
DPP3	TF binding region
ENSG00000255517	Chromatin interaction
ENSG00000254986	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11821143	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11821162	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11822113	0.83[AFR][1000 genomes]
rs11826683	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827783	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11828370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12099209	1.00[AMR][1000 genomes]
rs28637515	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28640072	1.00[AMR][1000 genomes]
rs28672995	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28687888	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56021141	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56039471	1.00[AMR][1000 genomes]
rs57458798	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57814854	1.00[AMR][1000 genomes]
rs57925533	1.00[AMR][1000 genomes]
rs58024886	1.00[AMR][1000 genomes]
rs58149913	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61303821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61610137	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
3	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv468601	chr11:66234023-66296114	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv555224	chr11:66234023-66296114	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66248400-66256800	Weak transcription	Left Ventricle	heart
2	chr11:66248600-66256800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:66248600-66259200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:66248600-66259200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:66248600-66260200	Weak transcription	HUVEC	blood vessel
6	chr11:66248600-66260200	Weak transcription	NH-A	brain
7	chr11:66248600-66260600	Weak transcription	Psoas Muscle	Psoas
8	chr11:66248600-66260800	Weak transcription	Right Atrium	heart
9	chr11:66248600-66261600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:66248600-66263200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:66248600-66263200	Weak transcription	Small Intestine	intestine
12	chr11:66248600-66277600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:66248600-66277600	Weak transcription	Fetal Brain Male	brain
14	chr11:66248600-66277600	Weak transcription	Fetal Lung	lung
15	chr11:66248600-66278000	Weak transcription	NHDF-Ad	bronchial
16	chr11:66248800-66255200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr11:66248800-66255400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:66248800-66259200	Weak transcription	HMEC	breast
19	chr11:66248800-66261200	Weak transcription	Stomach Mucosa	stomach
20	chr11:66248800-66277600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr11:66248800-66277600	Weak transcription	K562	blood
22	chr11:66249600-66257000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:66249600-66259200	Strong transcription	Fetal Intestine Small	intestine
24	chr11:66249600-66265200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:66249600-66265400	Strong transcription	Lung	lung
26	chr11:66249600-66266800	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:66249600-66268200	Strong transcription	Thymus	Thymus
28	chr11:66249600-66268400	Strong transcription	Adipose Nuclei	Adipose
29	chr11:66249800-66258000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:66249800-66260400	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr11:66249800-66265200	Strong transcription	Gastric	stomach
32	chr11:66249800-66265200	Strong transcription	NHEK	skin
33	chr11:66249800-66267000	Strong transcription	Spleen	Spleen
34	chr11:66249800-66268800	Strong transcription	Fetal Thymus	thymus
35	chr11:66249800-66268800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr11:66249800-66273200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:66250000-66258000	Strong transcription	Primary T cells from cord blood	blood
38	chr11:66250000-66259200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:66250000-66268400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr11:66250200-66260000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:66250200-66261200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr11:66250200-66266600	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr11:66250200-66266600	Strong transcription	Dnd41	blood
44	chr11:66250200-66268400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:66250200-66268400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:66250400-66257600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:66250400-66268200	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr11:66250600-66268800	Strong transcription	Liver	Liver
49	chr11:66250800-66268200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr11:66251200-66277600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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