Variant report

Variant	rs73383726
Chromosome Location	chr21:37757022-37757023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr21:37756839-37758129	IMR90	lung:	n/a	chr21:37757602-37757611 chr21:37757578-37757588
2	MXI1	chr21:37756722-37758365	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr21:37756427-37757893	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:37756670..37758322-chr21:37802233..37804130,2	K562	blood:
2	chr21:37753513..37755666-chr21:37756001..37757575,2	K562	blood:
3	chr21:37528674..37530306-chr21:37756233..37759090,3	K562	blood:
4	chr21:37529622..37532329-chr21:37755186..37757212,2	MCF-7	breast:
5	chr21:37756881..37759811-chr21:38336501..38339442,2	K562	blood:
6	chr21:37690927..37695092-chr21:37755797..37759502,6	K562	blood:
7	chr21:37691256..37694526-chr21:37756773..37759502,4	K562	blood:

No data

Variant related genes	Relation type
CHAF1B	TF binding region
ENSG00000142197	Chromatin interaction
ENSG00000230479	Chromatin interaction
ENSG00000224790	Chromatin interaction
ENSG00000159256	Chromatin interaction
ENSG00000273199	Chromatin interaction
ENSG00000159267	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10483033	1.00[AMR][1000 genomes]
rs16994069	1.00[AMR][1000 genomes]
rs2230637	1.00[AMR][1000 genomes]
rs57154050	1.00[AMR][1000 genomes]
rs73385706	1.00[AMR][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	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37699400-37757600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:37711400-37757600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr21:37722800-37757400	Weak transcription	Right Atrium	heart
4	chr21:37722800-37757600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:37742200-37757400	Weak transcription	Stomach Mucosa	stomach
6	chr21:37742200-37757600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:37743200-37757400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr21:37744000-37757200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr21:37745400-37757600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr21:37745600-37757400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr21:37746000-37757200	Weak transcription	Colon Smooth Muscle	Colon
12	chr21:37746600-37757200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr21:37747200-37757200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr21:37747200-37757400	Weak transcription	Colonic Mucosa	Colon
15	chr21:37747200-37757600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr21:37747400-37757400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr21:37748200-37757200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr21:37748200-37758000	Weak transcription	Fetal Brain Male	brain
19	chr21:37750000-37757200	Weak transcription	Brain Substantia Nigra	brain
20	chr21:37750200-37757200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr21:37750200-37757200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr21:37750200-37757200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr21:37750400-37757200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr21:37750400-37757200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr21:37750400-37757200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr21:37750400-37757200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr21:37750400-37757200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr21:37750400-37757200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr21:37750400-37757200	Weak transcription	Brain Anterior Caudate	brain
30	chr21:37750400-37757200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr21:37750400-37757200	Weak transcription	Brain Germinal Matrix	brain
32	chr21:37750400-37757200	Weak transcription	Fetal Intestine Large	intestine
33	chr21:37750400-37757200	Weak transcription	Dnd41	blood
34	chr21:37750400-37757200	Weak transcription	NHDF-Ad	bronchial
35	chr21:37750400-37757400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr21:37750400-37757400	Weak transcription	Primary T cells from cord blood	blood
37	chr21:37750400-37757400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr21:37750400-37757400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr21:37750400-37757600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr21:37750400-37757600	Weak transcription	Aorta	Aorta
41	chr21:37750400-37757600	Weak transcription	Esophagus	oesophagus
42	chr21:37750400-37757600	Weak transcription	Gastric	stomach
43	chr21:37750400-37757800	Weak transcription	GM12878-XiMat	blood
44	chr21:37750600-37757200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr21:37750600-37757200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr21:37750600-37757200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr21:37750600-37757200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr21:37750600-37757200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr21:37750600-37757200	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr21:37750600-37757200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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