Variant report

Variant	rs4938789
Chromosome Location	chr11:120043191-120043192
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:120043093..120043613-chr11:120053019..120053889,2	MCF-7	breast:
2	chr11:120041530..120043873-chr11:120106114..120109584,5	K562	blood:
3	chr11:120043046..120043571-chr11:120100218..120100788,2	MCF-7	breast:
4	chr11:120042978..120043613-chr11:120105435..120106323,2	K562	blood:
5	chr11:120042666..120043739-chr11:120100070..120101150,7	K562	blood:
6	chr11:120042598..120043820-chr11:120173442..120174406,6	K562	blood:
7	chr11:119991742..119994128-chr11:120041688..120043338,2	K562	blood:
8	chr11:120041545..120045663-chr11:120098074..120102653,6	MCF-7	breast:
9	chr11:120042758..120043591-chr11:120170404..120171318,5	K562	blood:
10	chr11:120042675..120043623-chr11:120099973..120101146,10	MCF-7	breast:
11	chr11:120042631..120043429-chr11:120173449..120174511,3	MCF-7	breast:
12	chr11:120041303..120043768-chr11:120091508..120094206,2	MCF-7	breast:
13	chr11:119991248..119994128-chr11:120040682..120043338,2	K562	blood:
14	chr11:120043099..120045650-chr11:120048774..120051644,2	K562	blood:
15	chr11:120042899..120045222-chr11:120108366..120110220,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137699	Chromatin interaction
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11217755	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12418601	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12419025	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12421142	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2848728	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35650539	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4938788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4938791	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs547124	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs582071	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs604413	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61900474	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61900479	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs620602	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs626151	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs657898	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs659912	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs673292	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs675647	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7949789	0.94[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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120040600-120049000	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:120040600-120049600	Weak transcription	Right Atrium	heart
3	chr11:120040800-120043200	Weak transcription	Gastric	stomach
4	chr11:120040800-120043200	Weak transcription	Pancreas	Pancrea
5	chr11:120041000-120043200	Weak transcription	Esophagus	oesophagus
6	chr11:120042000-120043600	Enhancers	Spleen	Spleen
7	chr11:120042600-120044600	Enhancers	Brain Angular Gyrus	brain
8	chr11:120042800-120043200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:120042800-120043400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr11:120042800-120043400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr11:120042800-120043400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr11:120042800-120043400	Bivalent Enhancer	Stomach Mucosa	stomach
13	chr11:120042800-120043600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr11:120042800-120043600	Enhancers	Brain Hippocampus Middle	brain
15	chr11:120042800-120043600	Enhancers	Duodenum Mucosa	Duodenum
16	chr11:120042800-120043800	Enhancers	Liver	Liver
17	chr11:120042800-120044200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr11:120042800-120044600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:120042800-120045000	Enhancers	Brain Cingulate Gyrus	brain
20	chr11:120042800-120045000	Enhancers	Fetal Intestine Large	intestine
21	chr11:120043000-120043200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:120043000-120043200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:120043000-120043200	Bivalent Enhancer	Fetal Thymus	thymus
24	chr11:120043000-120043200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr11:120043000-120043200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
26	chr11:120043000-120043400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:120043000-120043600	Bivalent Enhancer	Primary B cells from cord blood	blood
28	chr11:120043000-120043600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:120043000-120043600	Enhancers	HepG2	liver
30	chr11:120043000-120044000	Enhancers	Primary hematopoietic stem cells	blood
31	chr11:120043000-120044000	Enhancers	Fetal Intestine Small	intestine
32	chr11:120043000-120044200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
33	chr11:120043000-120044600	Enhancers	Brain Anterior Caudate	brain
34	chr11:120043000-120044600	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr11:120043000-120045000	Enhancers	Fetal Stomach	stomach

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