Variant report

Variant	rs374575
Chromosome Location	chr21:40193914-40193915
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40193537..40196010-chr21:40225779..40228010,2	MCF-7	breast:
2	chr21:40191844..40194526-chr21:40280639..40282336,2	MCF-7	breast:
3	chr21:40193849..40196646-chr21:40227112..40228777,2	K562	blood:
4	chr21:40193156..40195802-chr21:40196323..40199129,2	K562	blood:
5	chr17:49243355..49244142-chr21:40193845..40194354,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000243678	Chromatin interaction

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

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

rs_ID	r²[population]
rs1009123	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs11700716	0.86[EUR][1000 genomes]
rs13047489	0.88[EUR][1000 genomes]
rs13047716	0.88[EUR][1000 genomes]
rs13048664	0.88[EUR][1000 genomes]
rs1534827	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs1882734	0.86[EUR][1000 genomes]
rs1893203	0.81[EUR][1000 genomes]
rs1893204	0.81[EUR][1000 genomes]
rs2015748	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs2836697	0.86[EUR][1000 genomes]
rs2836700	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs2836703	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs464366	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs464476	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs468057	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs55938987	0.81[EUR][1000 genomes]
rs7276433	0.81[EUR][1000 genomes]
rs7281107	0.81[EUR][1000 genomes]
rs7281192	0.81[EUR][1000 genomes]
rs7281242	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs7281259	0.80[CEU][hapmap];0.90[GIH][hapmap];0.81[EUR][1000 genomes]
rs7281698	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs877372	0.88[EUR][1000 genomes]
rs909103	0.90[CEU][hapmap];0.86[EUR][1000 genomes]

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	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh 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	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 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	chr21:40180200-40198400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr21:40181800-40197000	Strong transcription	Fetal Thymus	thymus
3	chr21:40182000-40196600	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr21:40183000-40196600	Strong transcription	Primary T helper cells PMA-I stimulated	--
5	chr21:40183600-40196800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr21:40183800-40196800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:40184000-40196800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr21:40184400-40196800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr21:40184600-40195000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr21:40184600-40196000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr21:40184800-40195200	Strong transcription	Ovary	ovary
12	chr21:40184800-40196600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr21:40184800-40196800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr21:40185000-40196600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr21:40185000-40196600	Strong transcription	K562	blood
16	chr21:40185000-40197000	Strong transcription	Thymus	Thymus
17	chr21:40185200-40196600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr21:40185400-40194000	Strong transcription	Fetal Intestine Large	intestine
19	chr21:40185600-40195200	Weak transcription	Fetal Brain Female	brain
20	chr21:40185600-40195200	Strong transcription	GM12878-XiMat	blood
21	chr21:40186000-40197600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr21:40186200-40195800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
23	chr21:40186200-40196400	Strong transcription	Primary B cells from cord blood	blood
24	chr21:40186200-40197000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr21:40186400-40194400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr21:40186400-40195200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr21:40186400-40195200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr21:40186600-40194800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
29	chr21:40186600-40196600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
30	chr21:40186600-40196800	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr21:40186800-40196600	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr21:40186800-40196600	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr21:40186800-40196800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr21:40187000-40195200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr21:40187000-40196800	Genic enhancers	Rectal Mucosa Donor 31	rectum
36	chr21:40187000-40197400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr21:40187000-40197400	Strong transcription	Dnd41	blood
38	chr21:40187200-40194000	Strong transcription	Fetal Intestine Small	intestine
39	chr21:40188200-40196800	Strong transcription	Primary T cells from cord blood	blood
40	chr21:40188400-40195200	Strong transcription	Brain Substantia Nigra	brain
41	chr21:40188400-40195800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr21:40188400-40196200	Genic enhancers	Duodenum Mucosa	Duodenum
43	chr21:40188400-40196600	Strong transcription	Pancreas	Pancrea
44	chr21:40188800-40195200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr21:40188800-40196200	Genic enhancers	Rectal Mucosa Donor 29	rectum
46	chr21:40189200-40194800	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr21:40189400-40194000	Strong transcription	Fetal Brain Male	brain
48	chr21:40189400-40195200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr21:40189400-40195200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr21:40189400-40196000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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