Variant report

Variant	rs2841522
Chromosome Location	chr6:13613311-13613312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:13613293-13616542	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:13613120-13613962	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr6:13613191-13613339	HepG2	liver:	n/a	n/a
4	MAX	chr6:13613179-13613783	K562	blood:	n/a	n/a
5	MAX	chr6:13613307-13613538	K562	blood:	n/a	n/a
6	POLR2A	chr6:13613131-13613772	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:13612829-13613952	Raji	blood:	n/a	n/a
8	POLR2A	chr6:13613290-13618341	HepG2	liver:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13602809..13604762-chr6:13612236..13614334,2	MCF-7	breast:
2	chr6:13590020..13592092-chr6:13613301..13614850,2	MCF-7	breast:
3	chr6:13592972..13596401-chr6:13611564..13614564,3	K562	blood:
4	chr6:13572865..13577994-chr6:13612366..13619020,17	K562	blood:
5	chr6:13572710..13576955-chr6:13610549..13618685,22	MCF-7	breast:
6	chr6:13550240..13552632-chr6:13612662..13615380,2	K562	blood:
7	chr6:13611124..13612865-chr6:13613268..13615090,3	MCF-7	breast:
8	chr6:13612439..13617063-chr6:13710643..13713872,7	MCF-7	breast:
9	chr6:13486545..13489203-chr6:13612282..13616748,6	MCF-7	breast:
10	chr6:13612229..13617961-chr6:13707977..13713490,13	K562	blood:
11	chr6:13550897..13553809-chr6:13613008..13614749,2	MCF-7	breast:
12	chr6:13572530..13575607-chr6:13609842..13613582,5	K562	blood:
13	chr6:13612983..13618304-chr6:13679034..13683117,5	K562	blood:
14	chr6:13612104..13613937-chr6:13641245..13643744,2	K562	blood:

No data

Variant related genes	Relation type
NOL7	TF binding region
ENSG00000252966	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000145990	Chromatin interaction
ENSG00000124523	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10807467	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10948804	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11962124	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12209803	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12664567	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2841514	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2841515	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2841517	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2841518	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2841520	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2841521	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2841523	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2841524	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3757260	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3800503	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3823453	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899402	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7745101	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7760411	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 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	chr6:13575600-13613800	Weak transcription	Stomach Mucosa	stomach
2	chr6:13575600-13614400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:13575800-13614200	Weak transcription	HUVEC	blood vessel
4	chr6:13575800-13614600	Weak transcription	Right Atrium	heart
5	chr6:13576200-13614400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr6:13580400-13614800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:13585600-13613800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr6:13588400-13614200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr6:13588600-13614000	Weak transcription	NHLF	lung
10	chr6:13588600-13614400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:13588800-13614600	Weak transcription	Small Intestine	intestine
12	chr6:13589000-13614400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr6:13593000-13613600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:13594400-13613600	Weak transcription	NH-A	brain
15	chr6:13595000-13613600	Weak transcription	Dnd41	blood
16	chr6:13595600-13614600	Weak transcription	Thymus	Thymus
17	chr6:13595600-13614800	Weak transcription	Aorta	Aorta
18	chr6:13595800-13613600	Weak transcription	Fetal Brain Male	brain
19	chr6:13597200-13613800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:13597200-13614400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:13597200-13614400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:13597600-13613800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr6:13597600-13614400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr6:13597600-13614400	Weak transcription	Fetal Lung	lung
25	chr6:13598200-13613400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:13598600-13613400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr6:13598600-13614400	Weak transcription	Fetal Kidney	kidney
28	chr6:13599400-13614400	Weak transcription	Esophagus	oesophagus
29	chr6:13599400-13614800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr6:13599600-13614800	Weak transcription	Gastric	stomach
31	chr6:13601400-13613600	Weak transcription	A549	lung
32	chr6:13601400-13614400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr6:13601400-13614400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr6:13601600-13613400	Weak transcription	Brain Anterior Caudate	brain
35	chr6:13601600-13614400	Weak transcription	Colonic Mucosa	Colon
36	chr6:13601600-13614400	Weak transcription	Colon Smooth Muscle	Colon
37	chr6:13601600-13614400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr6:13601600-13614400	Weak transcription	Right Ventricle	heart
39	chr6:13601600-13614400	Weak transcription	Spleen	Spleen
40	chr6:13601600-13614800	Weak transcription	Brain Substantia Nigra	brain
41	chr6:13601800-13613600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:13601800-13613600	Weak transcription	NHDF-Ad	bronchial
43	chr6:13601800-13613800	Weak transcription	HMEC	breast
44	chr6:13601800-13613800	Weak transcription	NHEK	skin
45	chr6:13601800-13614400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr6:13602200-13614000	Weak transcription	HSMMtube	muscle
47	chr6:13602200-13614400	Weak transcription	Brain Germinal Matrix	brain
48	chr6:13602400-13613600	Weak transcription	HSMM	muscle
49	chr6:13602400-13614400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr6:13602400-13614400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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