Variant report

Variant	rs73419791
Chromosome Location	chr7:104622587-104622588
allele	A/G
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:13)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:104621940..104625883-chr7:105161426..105164380,3	K562	blood:
2	chr7:104622467..104625447-chr7:104737969..104740560,2	K562	blood:
3	chr7:104621844..104624679-chr7:104701034..104702609,2	K562	blood:
4	chr7:104615466..104619404-chr7:104620250..104622785,4	MCF-7	breast:
5	chr7:104620361..104623335-chr7:104771207..104773173,3	K562	blood:
6	chr7:104583958..104586878-chr7:104622233..104624393,3	K562	blood:
7	chr7:104621807..104625592-chr7:104704805..104708118,3	K562	blood:
8	chr7:104622359..104624225-chr7:104726075..104728986,2	K562	blood:
9	chr7:104621712..104624253-chr7:104752670..104756026,3	K562	blood:
10	chr7:104611328..104613313-chr7:104621521..104624250,2	MCF-7	breast:
11	chr7:104622578..104624992-chr7:104770138..104773284,3	K562	blood:
12	chr7:104621885..104623495-chr7:105038172..105040017,2	K562	blood:
13	chr7:104549448..104551794-chr7:104621596..104624143,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-2	chr7:104622546-104623138	ENSG00000228393.3
2	lnc-SRPK2-1	chr7:104622194-104631612	NONHSAT122589
3	lnc-SRPK2-1	chr7:104622196-104625367	NONHSAT122590
4	lnc-SRPK2-1	chr7:104622196-104624373	NONHSAT122591
5	lnc-SRPK2-1	chr7:104622581-104623606	NONHSAT122593

No data

Variant related genes	Relation type
ENSG00000135250	Chromatin interaction
ENSG00000251911	Chromatin interaction
ENSG00000091127	Chromatin interaction
ENSG00000005483	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs59393468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421708	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73716466	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	nsv526422	chr7:104618318-104632980	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2829879	chr7:104618318-104652671	Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104587200-104623600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:104598200-104623000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr7:104601800-104622800	Weak transcription	Thymus	Thymus
4	chr7:104608400-104623000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:104616200-104622800	Enhancers	Stomach Smooth Muscle	stomach
6	chr7:104616200-104623400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr7:104616400-104622800	Enhancers	NHDF-Ad	bronchial
8	chr7:104616800-104623400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr7:104616800-104623400	Enhancers	Adipose Nuclei	Adipose
10	chr7:104617200-104622800	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr7:104617200-104623000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr7:104617400-104623200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr7:104617600-104623200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:104617600-104623400	Weak transcription	Lung	lung
15	chr7:104617600-104623400	Enhancers	Osteobl	bone
16	chr7:104618000-104623200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:104618200-104623400	Weak transcription	Aorta	Aorta
18	chr7:104618600-104622600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:104618600-104624200	Weak transcription	Gastric	stomach
20	chr7:104619000-104623600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:104619400-104623600	Enhancers	HUVEC	blood vessel
22	chr7:104619600-104623400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:104619800-104622600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:104619800-104622800	Weak transcription	Fetal Intestine Small	intestine
25	chr7:104619800-104623000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:104620000-104622800	Weak transcription	Small Intestine	intestine
27	chr7:104620000-104623000	Weak transcription	Fetal Lung	lung
28	chr7:104620000-104623400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:104620000-104623400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr7:104620000-104623600	Weak transcription	Ovary	ovary
31	chr7:104620200-104622800	Weak transcription	Brain Substantia Nigra	brain
32	chr7:104620200-104622800	Weak transcription	Fetal Thymus	thymus
33	chr7:104620200-104622800	Weak transcription	Right Ventricle	heart
34	chr7:104620200-104623000	Weak transcription	Pancreas	Pancrea
35	chr7:104620200-104623000	Weak transcription	Right Atrium	heart
36	chr7:104620200-104623000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:104620200-104623200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:104620200-104623200	Weak transcription	Colonic Mucosa	Colon
39	chr7:104620200-104623200	Weak transcription	Fetal Stomach	stomach
40	chr7:104620200-104623400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:104620200-104623400	Weak transcription	Esophagus	oesophagus
42	chr7:104620200-104623400	Weak transcription	Left Ventricle	heart
43	chr7:104620200-104623600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:104620200-104624000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:104620400-104623000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr7:104620400-104623400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr7:104620400-104623400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:104620600-104622800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:104620600-104622800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr7:104620600-104622800	Weak transcription	Fetal Muscle Leg	muscle

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