Variant report

Variant	rs7048686
Chromosome Location	chr9:136729671-136729672
allele	G/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:136721577..136724425-chr9:136727514..136729956,2	K562	blood:
2	chr9:136716201..136719069-chr9:136729479..136731369,2	MCF-7	breast:
3	chr9:136708649..136711470-chr9:136728033..136729956,2	MCF-7	breast:
4	chr9:136724408..136730266-chr9:136853620..136859994,16	MCF-7	breast:
5	chr9:136725437..136727832-chr9:136728228..136730381,2	K562	blood:
6	chr9:136700961..136707109-chr9:136726164..136730903,8	MCF-7	breast:
7	chr9:136727889..136730312-chr9:136777373..136780335,2	MCF-7	breast:
8	chr9:136726221..136733157-chr9:136853321..136860155,11	MCF-7	breast:
9	chr9:132257483..132259115-chr9:136727487..136729883,2	MCF-7	breast:
10	chr9:136697764..136700285-chr9:136729110..136730934,2	MCF-7	breast:
11	chr9:136729185..136731068-chr9:136732644..136734219,2	K562	blood:
12	chr9:136729161..136730927-chr9:136820243..136822364,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000204054	Chromatin interaction
ENSG00000160293	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10114727	1.00[EUR][1000 genomes]
rs10217159	1.00[EUR][1000 genomes]
rs11998957	1.00[EUR][1000 genomes]
rs12339322	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12342989	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12353234	1.00[EUR][1000 genomes]
rs2428122	1.00[EUR][1000 genomes]
rs73550009	1.00[EUR][1000 genomes]
rs73553983	1.00[EUR][1000 genomes]
rs73555907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73555909	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73555919	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894114	chr9:136538798-136779153	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv831745	chr9:136593702-136780273	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv831746	chr9:136607829-136750740	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv894122	chr9:136632662-136760639	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1035272	chr9:136665308-136772256	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv894123	chr9:136682408-136852501	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv894124	chr9:136716399-136870787	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv894125	chr9:136723520-136931957	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136711400-136737800	Weak transcription	NH-A	brain
2	chr9:136721200-136729800	Weak transcription	A549	lung
3	chr9:136721400-136738600	Weak transcription	HUVEC	blood vessel
4	chr9:136723800-136730000	Weak transcription	Hela-S3	cervix
5	chr9:136725800-136730000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:136726200-136735400	Weak transcription	Aorta	Aorta
7	chr9:136726400-136730200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:136726600-136735200	Weak transcription	Gastric	stomach
9	chr9:136727000-136730000	Enhancers	Fetal Muscle Leg	muscle
10	chr9:136727000-136730000	Enhancers	Placenta	Placenta
11	chr9:136727000-136730000	Enhancers	Spleen	Spleen
12	chr9:136727200-136730000	Enhancers	Lung	lung
13	chr9:136727600-136729800	Enhancers	Right Ventricle	heart
14	chr9:136727800-136729800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:136727800-136729800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:136727800-136730200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr9:136727800-136738400	Weak transcription	HepG2	liver
18	chr9:136727800-136739000	Weak transcription	NHLF	lung
19	chr9:136728000-136729800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr9:136728000-136730000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr9:136728400-136729800	Enhancers	Fetal Lung	lung
22	chr9:136728600-136729800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr9:136728600-136730000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr9:136728600-136730000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:136728600-136730000	Weak transcription	Fetal Brain Female	brain
26	chr9:136728600-136730000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr9:136728600-136730000	Enhancers	HSMMtube	muscle
28	chr9:136728600-136730000	Weak transcription	Osteobl	bone
29	chr9:136728600-136730200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr9:136728600-136731400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:136728800-136729800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:136728800-136729800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr9:136728800-136730000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr9:136729000-136730000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr9:136729000-136731200	Weak transcription	Brain Angular Gyrus	brain
36	chr9:136729200-136729800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:136729200-136729800	Enhancers	Liver	Liver
38	chr9:136729200-136730000	Strong transcription	Fetal Intestine Large	intestine
39	chr9:136729200-136730000	Weak transcription	GM12878-XiMat	blood
40	chr9:136729200-136730000	Enhancers	HMEC	breast
41	chr9:136729200-136730200	Strong transcription	Fetal Intestine Small	intestine
42	chr9:136729200-136730600	Weak transcription	Colonic Mucosa	Colon
43	chr9:136729200-136734400	Weak transcription	Primary B cells from cord blood	blood
44	chr9:136729400-136729800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr9:136729400-136730000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:136729400-136730000	Genic enhancers	Right Atrium	heart
47	chr9:136729600-136730000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr9:136729600-136730000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:136729600-136730000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr9:136729600-136730000	Weak transcription	Primary B cells from peripheral blood	blood

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