Variant report

Variant	rs8129295
Chromosome Location	chr21:37762964-37762965
allele	C/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	CTCF	chr21:37762880-37763030	AoAF	blood vessel:	n/a	n/a
2	POLR2A	chr21:37762598-37763144	GM12892	blood:	n/a	n/a
3	POLR2A	chr21:37762881-37763345	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:37756709..37759496-chr21:37762477..37765880,3	MCF-7	breast:

Variant related genes	Relation type
ATP5J2LP	TF binding region
ENSG00000159259	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1063308	1.00[ASN][1000 genomes]
rs17814122	1.00[ASN][1000 genomes]
rs1906487	1.00[ASN][1000 genomes]
rs56299925	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56382962	0.85[AFR][1000 genomes]
rs61741099	1.00[ASN][1000 genomes]
rs67850591	0.82[AFR][1000 genomes]
rs68081676	0.84[AFR][1000 genomes]
rs73202277	1.00[ASN][1000 genomes]
rs8127277	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8127711	1.00[ASN][1000 genomes]
rs8127746	1.00[ASN][1000 genomes]
rs8128974	1.00[ASN][1000 genomes]
rs8129103	1.00[ASN][1000 genomes]
rs9754126	0.84[ASW][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.93[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33578	chr21:37488312-37819627	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv1796009	chr21:37708503-37763979	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37758400-37763800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:37758400-37772000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr21:37758400-37772000	Weak transcription	Ovary	ovary
4	chr21:37758400-37788000	Weak transcription	Colonic Mucosa	Colon
5	chr21:37758400-37792200	Weak transcription	Fetal Kidney	kidney
6	chr21:37758400-37793400	Weak transcription	Aorta	Aorta
7	chr21:37758400-37794600	Weak transcription	Left Ventricle	heart
8	chr21:37758400-37794800	Weak transcription	Right Ventricle	heart
9	chr21:37758600-37763400	Weak transcription	Small Intestine	intestine
10	chr21:37758600-37766800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr21:37758600-37767000	Weak transcription	Thymus	Thymus
12	chr21:37758600-37767400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr21:37758600-37767400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr21:37758600-37767400	Weak transcription	Lung	lung
15	chr21:37758600-37769000	Weak transcription	Osteobl	bone
16	chr21:37758600-37770000	Weak transcription	Fetal Intestine Small	intestine
17	chr21:37758600-37773000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr21:37758600-37774600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr21:37758600-37774600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr21:37758600-37774800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr21:37758600-37774800	Weak transcription	NHDF-Ad	bronchial
22	chr21:37758600-37775200	Weak transcription	Primary T cells from cord blood	blood
23	chr21:37758600-37777400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr21:37758600-37777600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr21:37758600-37780400	Weak transcription	HUVEC	blood vessel
26	chr21:37758600-37783600	Weak transcription	Brain Germinal Matrix	brain
27	chr21:37758600-37783800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr21:37758600-37783800	Weak transcription	Spleen	Spleen
29	chr21:37758600-37785000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr21:37758600-37785000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr21:37758600-37785600	Weak transcription	Adipose Nuclei	Adipose
32	chr21:37758600-37787400	Weak transcription	Primary B cells from cord blood	blood
33	chr21:37758600-37790600	Weak transcription	Brain Anterior Caudate	brain
34	chr21:37758600-37790800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr21:37758600-37791000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr21:37758600-37793400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr21:37758600-37794200	Weak transcription	Liver	Liver
38	chr21:37758600-37797600	Weak transcription	HSMM	muscle
39	chr21:37758800-37763400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr21:37758800-37771400	Weak transcription	NHLF	lung
41	chr21:37758800-37771600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr21:37758800-37773000	Weak transcription	Esophagus	oesophagus
43	chr21:37758800-37774600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr21:37758800-37774600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr21:37758800-37775000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr21:37758800-37775000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr21:37758800-37780400	Weak transcription	Fetal Lung	lung
48	chr21:37758800-37785200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr21:37758800-37785200	Weak transcription	Pancreas	Pancrea
50	chr21:37758800-37785400	Weak transcription	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links