Variant report

Variant	rs502416
Chromosome Location	chr10:27541024-27541025
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr10:27541015-27541805	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr10:27540900-27541050	GM12874	blood:	n/a	n/a
3	TEAD4	chr10:27541014-27541473	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr10:27540983-27541035	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr10:27540980-27541130	HA-sp	spinal cord:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:27442115..27444569-chr10:27537853..27541412,3	K562	blood:
2	chr10:27529474..27534457-chr10:27540904..27545668,8	MCF-7	breast:
3	chr10:27529521..27534854-chr10:27538591..27544292,11	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACBD5-1	chr10:27534782-27541235	NR_003525

No data

Variant related genes	Relation type
LRRC37A6P	TF binding region
ENSG00000136758	Chromatin interaction
ENSG00000120539	Chromatin interaction
ENSG00000107897	Chromatin interaction
ENSG00000262412	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1144509	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12763511	0.81[EUR][1000 genomes]
rs1753387	0.81[EUR][1000 genomes]
rs1775348	0.81[EUR][1000 genomes]
rs1775354	0.81[EUR][1000 genomes]
rs1831186	0.84[AFR][1000 genomes]
rs1974364	0.81[EUR][1000 genomes]
rs2104670	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2104671	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2368221	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2488368	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2488369	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2780677	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2800399	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2800402	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs480738	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs484172	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs501495	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs527192	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs534226	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs559839	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs576161	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs590142	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs604705	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs618050	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs623380	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs624106	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs630317	0.84[AFR][1000 genomes]
rs640284	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs642428	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs642430	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs788212	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs788215	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7896532	0.92[EUR][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	esv2422253	chr10:27431366-27575370	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3337781	chr10:27472216-27666703	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv8614	chr10:27504487-27828406	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv947786	chr10:27535141-27541912	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27532600-27541200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:27532600-27541200	Weak transcription	Esophagus	oesophagus
3	chr10:27532600-27541200	Weak transcription	Pancreas	Pancrea
4	chr10:27532600-27541200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:27532800-27541200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr10:27532800-27541200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr10:27532800-27541200	Weak transcription	Right Ventricle	heart
8	chr10:27533000-27541200	Weak transcription	Primary T cells from cord blood	blood
9	chr10:27533000-27541200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:27533000-27541200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:27533000-27541200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr10:27533000-27541200	Weak transcription	Brain Substantia Nigra	brain
13	chr10:27533000-27541200	Weak transcription	Fetal Kidney	kidney
14	chr10:27536400-27541200	Weak transcription	Fetal Intestine Large	intestine
15	chr10:27536400-27541200	Weak transcription	Fetal Intestine Small	intestine
16	chr10:27537200-27541200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr10:27537200-27541200	Weak transcription	Fetal Muscle Leg	muscle
18	chr10:27537200-27541200	Weak transcription	Right Atrium	heart
19	chr10:27537200-27541400	Weak transcription	Psoas Muscle	Psoas
20	chr10:27538000-27541200	Weak transcription	Left Ventricle	heart
21	chr10:27538000-27541200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr10:27538000-27547200	Weak transcription	Fetal Heart	heart
23	chr10:27540400-27541200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr10:27540600-27541800	Enhancers	Spleen	Spleen
25	chr10:27541000-27541200	Enhancers	Primary T cells fromperipheralblood	blood
26	chr10:27541000-27541200	Enhancers	Primary hematopoietic stem cells	blood
27	chr10:27541000-27541200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr10:27541000-27541200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr10:27541000-27541200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr10:27541000-27541200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr10:27541000-27541200	Enhancers	Adipose Nuclei	Adipose
32	chr10:27541000-27541200	Enhancers	Duodenum Mucosa	Duodenum
33	chr10:27541000-27541200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr10:27541000-27541200	Enhancers	Placenta	Placenta
35	chr10:27541000-27541200	Enhancers	Fetal Thymus	thymus
36	chr10:27541000-27541200	Enhancers	Stomach Mucosa	stomach
37	chr10:27541000-27541400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr10:27541000-27541400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr10:27541000-27541400	Enhancers	Primary B cells from peripheral blood	blood
40	chr10:27541000-27541400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr10:27541000-27541400	Flanking Active TSS	Hela-S3	cervix
42	chr10:27541000-27541400	Flanking Active TSS	K562	blood
43	chr10:27541000-27541600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr10:27541000-27541600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr10:27541000-27542200	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr10:27541000-27542400	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr10:27541000-27542400	Active TSS	Monocytes-CD14+_RO01746	blood

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