Variant report

Variant	rs4416770
Chromosome Location	chr7:111374121-111374122
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111200196..111203350-chr7:111373480..111377525,4	K562	blood:
2	chr7:110941321..110943443-chr7:111373654..111375242,2	K562	blood:
3	chr7:108253689..108254301-chr7:111373979..111374487,2	K562	blood:

Variant related genes	Relation type
ENSG00000184903	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10246451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275090	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1054188	0.95[ASN][1000 genomes]
rs11767617	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971917	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12705797	1.00[ASN][1000 genomes]
rs17545234	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2078984	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2097712	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2301678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757648	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3779458	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801792	0.95[ASN][1000 genomes]
rs4730498	0.90[EUR][1000 genomes]
rs6950977	0.93[EUR][1000 genomes]
rs73432043	0.95[ASN][1000 genomes]
rs757031	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7803753	0.82[AFR][1000 genomes]
rs867915	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9641464	0.95[ASN][1000 genomes]
rs9641471	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2764041	chr7:110918713-111395390	Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv608196	chr7:111073710-111794368	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv932103	chr7:111092431-111412049	Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv869375	chr7:111105151-111470811	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv608215	chr7:111183610-111533520	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1028740	chr7:111227747-111679401	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1015267	chr7:111303294-111714771	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv539087	chr7:111303294-111714771	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv539088	chr7:111333899-111722341	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1034375	chr7:111337109-111459099	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111363000-111418000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:111364200-111378800	Weak transcription	HepG2	liver
3	chr7:111364400-111376400	Weak transcription	Right Atrium	heart
4	chr7:111365800-111375600	Weak transcription	Osteobl	bone
5	chr7:111366400-111376400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:111366600-111376400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:111366600-111383000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:111366800-111384200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:111366800-111394200	Weak transcription	Gastric	stomach
10	chr7:111367000-111375400	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:111367400-111375200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:111367400-111376000	Strong transcription	HUVEC	blood vessel
13	chr7:111367400-111401600	Weak transcription	Colonic Mucosa	Colon
14	chr7:111367600-111375000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:111367600-111375200	Strong transcription	Brain Anterior Caudate	brain
16	chr7:111368000-111378400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:111368200-111374800	Strong transcription	Fetal Lung	lung
18	chr7:111368200-111375400	Strong transcription	Lung	lung
19	chr7:111368800-111383000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:111368800-111383200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:111368800-111383200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:111369000-111375200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:111369000-111375600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:111369000-111376200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:111369000-111379200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:111369000-111382000	Weak transcription	Pancreas	Pancrea
27	chr7:111369200-111375200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:111369200-111379000	Weak transcription	Esophagus	oesophagus
29	chr7:111369200-111384200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:111369200-111386000	Weak transcription	Spleen	Spleen
31	chr7:111369400-111375000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:111369800-111375200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:111370000-111375400	Weak transcription	Fetal Intestine Small	intestine
34	chr7:111370000-111383400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr7:111370800-111375000	Strong transcription	Adipose Nuclei	Adipose
36	chr7:111370800-111375000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr7:111371000-111375400	Strong transcription	Liver	Liver
38	chr7:111371200-111374800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:111371200-111375200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:111371200-111383400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:111371400-111374800	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr7:111371400-111379200	Weak transcription	Fetal Kidney	kidney
43	chr7:111371600-111384600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:111371800-111374200	Strong transcription	Fetal Brain Male	brain
45	chr7:111371800-111375000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:111371800-111375000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr7:111371800-111377800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:111371800-111383200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr7:111371800-111384600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:111372000-111374200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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