Variant report

Variant	rs4818976
Chromosome Location	chr21:46200270-46200271
allele	C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46171813..46174336-chr21:46199513..46201823,2	K562	blood:
2	chr21:46185007..46187777-chr21:46197158..46201208,5	MCF-7	breast:
3	chr21:46199620..46201400-chr21:46208147..46210925,2	MCF-7	breast:
4	chr21:46198042..46200426-chr21:46201214..46204112,4	K562	blood:
5	chr21:46197899..46200792-chr21:46212721..46215023,2	MCF-7	breast:
6	chr21:46191363..46195338-chr21:46195868..46201575,8	MCF-7	breast:
7	chr21:46181840..46185418-chr21:46198665..46202269,4	MCF-7	breast:
8	chr21:46197791..46202676-chr21:46204066..46207240,6	MCF-7	breast:

No data

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13047692	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13047718	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13051119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13433413	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2294158	0.99[ASN][1000 genomes]
rs2838676	0.96[ASN][1000 genomes]
rs2838677	0.97[ASN][1000 genomes]
rs2838679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838693	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838697	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838698	0.96[ASN][1000 genomes]
rs2838700	0.96[ASN][1000 genomes]
rs34875321	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3788138	0.96[ASN][1000 genomes]
rs4818731	0.96[ASN][1000 genomes]
rs4818977	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72613649	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8131444	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8132011	0.81[ASN][1000 genomes]
rs9306115	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9306116	0.96[ASN][1000 genomes]
rs9637189	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9977465	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9977676	0.96[ASN][1000 genomes]
rs9978131	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][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	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46187000-46213000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr21:46187800-46206200	Strong transcription	Fetal Thymus	thymus
3	chr21:46188000-46201600	Strong transcription	Duodenum Mucosa	Duodenum
4	chr21:46188000-46203000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:46188000-46203200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr21:46188000-46208000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr21:46188200-46201600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr21:46188600-46201600	Strong transcription	Fetal Stomach	stomach
9	chr21:46188600-46208000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr21:46189000-46201400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr21:46189000-46221000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr21:46189200-46203000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr21:46189600-46201800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr21:46189600-46203600	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr21:46189600-46207800	Strong transcription	Dnd41	blood
16	chr21:46190800-46209600	Weak transcription	Fetal Brain Male	brain
17	chr21:46192800-46200400	Strong transcription	A549	lung
18	chr21:46193400-46212600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr21:46193800-46206000	Weak transcription	Brain Hippocampus Middle	brain
20	chr21:46193800-46212800	Weak transcription	Psoas Muscle	Psoas
21	chr21:46194200-46200400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr21:46194800-46203200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr21:46195000-46211200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr21:46195000-46212600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr21:46195000-46219800	Weak transcription	Small Intestine	intestine
26	chr21:46195200-46200600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr21:46195200-46204600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:46195400-46220400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr21:46195600-46211400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr21:46195800-46203200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr21:46196000-46200600	Weak transcription	Aorta	Aorta
32	chr21:46196000-46200600	Weak transcription	Spleen	Spleen
33	chr21:46196000-46205600	Weak transcription	Brain Anterior Caudate	brain
34	chr21:46196000-46211800	Weak transcription	NHLF	lung
35	chr21:46196800-46200600	Weak transcription	Esophagus	oesophagus
36	chr21:46196800-46203400	Weak transcription	Brain Germinal Matrix	brain
37	chr21:46197000-46203200	Weak transcription	Fetal Brain Female	brain
38	chr21:46197200-46200400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr21:46197200-46213000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr21:46197200-46220400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr21:46197400-46203000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr21:46197400-46204800	Weak transcription	Brain Substantia Nigra	brain
43	chr21:46197400-46212800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr21:46197600-46201400	Strong transcription	Primary B cells from cord blood	blood
45	chr21:46198000-46200400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr21:46198000-46200600	Genic enhancers	NHEK	skin
47	chr21:46198000-46201400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr21:46198000-46207200	Weak transcription	NH-A	brain
49	chr21:46198200-46201400	Enhancers	HSMMtube	muscle
50	chr21:46198200-46204800	Weak transcription	Placenta	Placenta

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