Variant report

Variant	rs8131444
Chromosome Location	chr21:46208483-46208484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46137717..46139381-chr21:46208284..46211097,2	MCF-7	breast:
2	chr21:46208115..46211415-chr21:46211594..46214545,4	MCF-7	breast:
3	chr21:46199620..46201400-chr21:46208147..46210925,2	MCF-7	breast:
4	chr21:46204105..46208556-chr21:46233916..46237563,3	K562	blood:
5	chr21:46188583..46191160-chr21:46207285..46209699,2	K562	blood:
6	chr21:46207093..46209545-chr21:46210264..46213746,3	K562	blood:
7	chr21:46204523..46207372-chr21:46207396..46209187,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs13047692	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13047718	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13051119	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13433413	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2294158	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2838676	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2838677	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2838679	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838693	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838697	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838698	0.96[ASN][1000 genomes]
rs2838700	0.96[ASN][1000 genomes]
rs28493119	0.82[AMR][1000 genomes]
rs34875321	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3788138	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4818731	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4818976	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4818977	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72613649	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8132011	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9306115	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9306116	0.96[ASN][1000 genomes]
rs9637189	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9977465	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9977676	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9978131	0.95[AFR][1000 genomes];0.96[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:125 , 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	chr21:46189000-46221000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr21:46190800-46209600	Weak transcription	Fetal Brain Male	brain
4	chr21:46193400-46212600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr21:46193800-46212800	Weak transcription	Psoas Muscle	Psoas
6	chr21:46195000-46211200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr21:46195000-46212600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr21:46195000-46219800	Weak transcription	Small Intestine	intestine
9	chr21:46195400-46220400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr21:46195600-46211400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr21:46196000-46211800	Weak transcription	NHLF	lung
12	chr21:46197200-46213000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr21:46197200-46220400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr21:46197400-46212800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr21:46198600-46212000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr21:46198800-46211400	Weak transcription	HUVEC	blood vessel
17	chr21:46198800-46213000	Weak transcription	Brain Angular Gyrus	brain
18	chr21:46198800-46219600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr21:46198800-46220000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr21:46198800-46220000	Weak transcription	Fetal Kidney	kidney
21	chr21:46199800-46209400	Weak transcription	NHDF-Ad	bronchial
22	chr21:46200000-46220400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr21:46200400-46212800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr21:46200400-46218200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr21:46200600-46212800	Weak transcription	Colon Smooth Muscle	Colon
26	chr21:46201200-46220400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr21:46201400-46211200	Weak transcription	Colonic Mucosa	Colon
28	chr21:46201600-46212600	Weak transcription	Gastric	stomach
29	chr21:46201600-46212800	Weak transcription	Right Atrium	heart
30	chr21:46201600-46212800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr21:46202400-46219200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr21:46203400-46220000	Weak transcription	Fetal Brain Female	brain
33	chr21:46204000-46212600	Weak transcription	Ovary	ovary
34	chr21:46204800-46211200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr21:46205000-46209400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr21:46205000-46211600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr21:46205200-46210400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr21:46205200-46211200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr21:46205200-46212000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr21:46205200-46212200	Weak transcription	Spleen	Spleen
41	chr21:46205200-46213000	Weak transcription	Brain Substantia Nigra	brain
42	chr21:46205200-46213000	Weak transcription	Left Ventricle	heart
43	chr21:46205200-46213200	Weak transcription	Esophagus	oesophagus
44	chr21:46205200-46220400	Weak transcription	Aorta	Aorta
45	chr21:46205200-46220800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr21:46205400-46209800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr21:46205400-46212800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr21:46205600-46209400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr21:46205600-46211800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr21:46205600-46212600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links