Variant report

Variant	rs73906662
Chromosome Location	chr21:45302292-45302293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45287059..45290436-chr21:45298345..45302746,3	MCF-7	breast:
2	chr21:45283616..45286882-chr21:45299913..45305661,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1136075	1.00[AMR][1000 genomes]
rs55865152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56307626	1.00[AMR][1000 genomes]
rs57619381	1.00[AMR][1000 genomes]
rs58866868	1.00[AMR][1000 genomes]
rs59095908	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60910278	1.00[AMR][1000 genomes]
rs73906608	1.00[AMR][1000 genomes]
rs73906612	1.00[AMR][1000 genomes]
rs73906613	1.00[AMR][1000 genomes]
rs73906617	1.00[AMR][1000 genomes]
rs73906620	1.00[AMR][1000 genomes]
rs73906621	1.00[AMR][1000 genomes]
rs73906622	1.00[AMR][1000 genomes]
rs73906623	1.00[AMR][1000 genomes]
rs73906624	1.00[AMR][1000 genomes]
rs73906625	1.00[AMR][1000 genomes]
rs73906626	1.00[AMR][1000 genomes]
rs73906627	1.00[AMR][1000 genomes]
rs73906630	1.00[AMR][1000 genomes]
rs73906633	1.00[AMR][1000 genomes]
rs73906635	1.00[AMR][1000 genomes]
rs73906636	1.00[AMR][1000 genomes]
rs73906638	1.00[AMR][1000 genomes]
rs73906643	1.00[AMR][1000 genomes]
rs73906650	1.00[AMR][1000 genomes]
rs73906656	1.00[AMR][1000 genomes]
rs73906660	1.00[AMR][1000 genomes]
rs73906663	1.00[AMR][1000 genomes]
rs73906665	1.00[AMR][1000 genomes]
rs73906666	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	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
4	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS 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	29 gene(s)	inside rSNPs	diseases
5	nsv1066284	chr21:45249549-45343314	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45287000-45304200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr21:45287400-45330200	Weak transcription	Fetal Kidney	kidney
3	chr21:45287600-45307200	Weak transcription	Fetal Brain Male	brain
4	chr21:45288200-45324200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr21:45288800-45303800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr21:45290800-45304200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr21:45293000-45304200	Weak transcription	Fetal Lung	lung
8	chr21:45293400-45303800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr21:45294200-45303400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr21:45294800-45303800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr21:45295600-45303800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr21:45295600-45304200	Strong transcription	Fetal Stomach	stomach
13	chr21:45296400-45304200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:45296600-45303800	Weak transcription	Fetal Heart	heart
15	chr21:45297000-45304200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr21:45297800-45303200	Strong transcription	Dnd41	blood
17	chr21:45298400-45304200	Weak transcription	Brain Germinal Matrix	brain
18	chr21:45298400-45304200	Weak transcription	Fetal Brain Female	brain
19	chr21:45298400-45306000	Enhancers	Adipose Nuclei	Adipose
20	chr21:45298400-45312600	Weak transcription	Aorta	Aorta
21	chr21:45298600-45312800	Weak transcription	Primary B cells from cord blood	blood
22	chr21:45298800-45303800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr21:45299200-45303000	Genic enhancers	K562	blood
24	chr21:45299200-45303400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr21:45299600-45304200	Genic enhancers	Fetal Intestine Small	intestine
26	chr21:45299800-45302800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr21:45300000-45304200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr21:45300200-45302600	Weak transcription	Colonic Mucosa	Colon
29	chr21:45300200-45303600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr21:45300200-45303800	Weak transcription	Fetal Thymus	thymus
31	chr21:45300400-45302400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr21:45300400-45302600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr21:45300400-45303000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr21:45300400-45303800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr21:45300400-45304200	Weak transcription	Ovary	ovary
36	chr21:45300600-45302400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr21:45300600-45302600	Weak transcription	Stomach Mucosa	stomach
38	chr21:45300600-45303600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr21:45300600-45303800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr21:45300600-45304000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr21:45300600-45304200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr21:45300600-45304200	Weak transcription	Lung	lung
43	chr21:45300600-45304200	Weak transcription	NH-A	brain
44	chr21:45300600-45304200	Weak transcription	NHEK	skin
45	chr21:45300600-45316400	Weak transcription	A549	lung
46	chr21:45300800-45302400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr21:45300800-45302400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr21:45300800-45302600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr21:45300800-45302800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr21:45300800-45303000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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