Variant report

Variant	rs62463724
Chromosome Location	chr7:101500000-101500001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101498602..101500393-chr7:101528605..101531066,2	K562	blood:
2	chr7:101497702..101501860-chr7:101544397..101548440,5	K562	blood:
3	chr7:101497978..101502748-chr7:101507506..101511659,5	K562	blood:
4	chr7:101499177..101500884-chr7:101592155..101594587,2	K562	blood:
5	chr7:101498548..101502350-chr7:101502411..101507839,8	MCF-7	breast:
6	chr7:101499203..101501714-chr7:101524450..101526322,2	MCF-7	breast:
7	chr7:101473490..101475877-chr7:101498449..101501433,2	MCF-7	breast:
8	chr7:101499241..101502568-chr7:101516152..101518737,4	K562	blood:
9	chr7:101458521..101459437-chr7:101499937..101501023,3	MCF-7	breast:
10	chr7:101455967..101463882-chr7:101497000..101502046,12	K562	blood:
11	chr7:101498625..101501540-chr7:101618895..101621523,2	MCF-7	breast:
12	chr7:101478135..101485394-chr7:101496220..101502463,10	K562	blood:
13	chr7:101498446..101503068-chr7:101525023..101527426,4	MCF-7	breast:
14	chr7:101456333..101461122-chr7:101497947..101501643,4	MCF-7	breast:
15	chr7:101497931..101500798-chr7:101614587..101617565,2	MCF-7	breast:
16	chr7:101488631..101490666-chr7:101498295..101500153,2	K562	blood:
17	chr7:101499739..101501403-chr7:101611474..101612975,2	K562	blood:
18	chr7:101446704..101449340-chr7:101499387..101502375,2	K562	blood:
19	chr7:101498433..101500153-chr7:101541432..101543362,2	K562	blood:
20	chr7:101498337..101502406-chr7:101523360..101525757,3	K562	blood:
21	chr7:101465557..101467704-chr7:101499795..101501367,2	K562	blood:
22	chr7:101457183..101463031-chr7:101497949..101502134,11	MCF-7	breast:
23	chr7:101492252..101496908-chr7:101497174..101502895,8	K562	blood:
24	chr7:101498913..101502613-chr7:101503712..101508254,12	K562	blood:
25	chr7:101499113..101502991-chr7:101502997..101507438,12	K562	blood:
26	chr7:101456928..101460439-chr7:101497000..101502046,10	K562	blood:
27	chr7:101481276..101483838-chr7:101497755..101500225,2	K562	blood:
28	chr7:101460966..101463882-chr7:101498050..101500277,2	K562	blood:
29	chr7:101498337..101501092-chr7:101523360..101525337,2	K562	blood:
30	chr7:101498814..101500323-chr7:101586535..101589205,2	K562	blood:
31	chr7:101497978..101500551-chr7:101508807..101510761,2	K562	blood:
32	chr7:101499493..101501322-chr7:101514086..101515817,2	K562	blood:
33	chr7:101497702..101500077-chr7:101546251..101547968,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10257345	0.83[EUR][1000 genomes]
rs28727287	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236557	0.82[AFR][1000 genomes]
rs60464978	1.00[ASN][1000 genomes]
rs62463718	0.86[EUR][1000 genomes];1.00[ASN][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	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101476200-101500000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:101495000-101501600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:101497000-101500000	Enhancers	Fetal Muscle Leg	muscle
4	chr7:101497200-101501600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:101497600-101501000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:101497800-101500000	Enhancers	Right Atrium	heart
7	chr7:101498000-101502400	Weak transcription	Brain Germinal Matrix	brain
8	chr7:101498400-101500400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:101498400-101502400	Weak transcription	Brain Angular Gyrus	brain
10	chr7:101498800-101504000	Weak transcription	Fetal Brain Female	brain
11	chr7:101499000-101501200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr7:101499000-101501200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:101499000-101501400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr7:101499200-101500000	Genic enhancers	Fetal Intestine Small	intestine
15	chr7:101499200-101500000	Enhancers	Fetal Stomach	stomach
16	chr7:101499200-101500200	Flanking Active TSS	K562	blood
17	chr7:101499200-101500200	Active TSS	NHLF	lung
18	chr7:101499200-101501000	Enhancers	Small Intestine	intestine
19	chr7:101499200-101501200	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr7:101499200-101501200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr7:101499200-101501600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:101499200-101501800	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr7:101499200-101501800	Flanking Active TSS	GM12878-XiMat	blood
24	chr7:101499400-101500000	Enhancers	Fetal Intestine Large	intestine
25	chr7:101499400-101500000	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr7:101499400-101500000	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr7:101499400-101500200	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr7:101499400-101500200	Flanking Active TSS	Fetal Heart	heart
29	chr7:101499400-101500200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr7:101499400-101500400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:101499400-101500400	Flanking Active TSS	Fetal Kidney	kidney
32	chr7:101499400-101500400	Flanking Active TSS	HepG2	liver
33	chr7:101499400-101500600	Active TSS	NHDF-Ad	bronchial
34	chr7:101499400-101500800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr7:101499400-101501000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr7:101499400-101501000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr7:101499400-101501600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:101499400-101504800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:101499600-101500000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr7:101499600-101500000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr7:101499600-101500000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr7:101499600-101500000	Enhancers	Lung	lung
43	chr7:101499600-101500000	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr7:101499600-101500200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr7:101499600-101500200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr7:101499600-101500200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr7:101499600-101500200	Flanking Active TSS	Hela-S3	cervix
48	chr7:101499600-101500200	Enhancers	NH-A	brain
49	chr7:101499600-101500400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr7:101499600-101500400	Enhancers	H1 Cell Line	embryonic stem cell

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