Variant report

Variant	rs10937781
Chromosome Location	chr4:7050111-7050112
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr4:7050008-7050263	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr4:7050015-7050227	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:6912685..6914453-chr4:7047994..7050583,2	MCF-7	breast:
2	chr4:7034052..7036978-chr4:7048752..7050371,2	MCF-7	breast:
3	chr4:7041999..7051916-chr4:7066728..7075643,37	MCF-7	breast:
4	chr4:6913588..6915420-chr4:7049904..7051749,2	K562	blood:
5	chr4:7042421..7051559-chr4:7062214..7072674,24	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000245748	TF binding region
TADA2B	TF binding region
ENSG00000109519	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10012093	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13113578	1.00[EUR][1000 genomes]
rs3951347	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4513569	1.00[EUR][1000 genomes]
rs4689062	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4689063	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4689582	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4689588	1.00[EUR][1000 genomes]
rs62291193	0.85[EUR][1000 genomes]
rs62291194	0.85[EUR][1000 genomes]
rs62291195	0.85[EUR][1000 genomes]
rs62291196	0.85[EUR][1000 genomes]
rs6814746	1.00[EUR][1000 genomes]
rs6832413	0.90[EUR][1000 genomes]
rs6841824	0.90[EUR][1000 genomes]
rs6849547	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7666504	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7699619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs871133	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs907522	1.00[EUR][1000 genomes]
rs907524	1.00[EUR][1000 genomes]
rs907525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9985704	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers 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 miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv878531	chr4:7006541-7129556	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv878532	chr4:7010504-7055603	Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv878533	chr4:7032180-7063524	Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer 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
10	nsv4217	chr4:7035512-7080230	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	esv1801315	chr4:7044007-7052777	Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	esv1835149	chr4:7044007-7052777	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv1798014	chr4:7044504-7052182	Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr4:7046200-7068600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:7046600-7050400	Enhancers	Lung	lung
3	chr4:7046600-7050800	Genic enhancers	Fetal Muscle Leg	muscle
4	chr4:7046600-7051400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr4:7046600-7053800	Weak transcription	A549	lung
6	chr4:7046600-7055600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:7046600-7055600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:7046600-7055800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:7046600-7062600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:7046800-7062000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:7047000-7053000	Weak transcription	NHLF	lung
12	chr4:7047000-7056000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:7047000-7056200	Weak transcription	HUVEC	blood vessel
14	chr4:7047000-7057400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:7047000-7059600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:7047000-7061200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:7047200-7055600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:7047200-7056200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr4:7047200-7059600	Weak transcription	NH-A	brain
20	chr4:7047400-7059200	Strong transcription	Fetal Intestine Small	intestine
21	chr4:7047400-7062400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:7047600-7050600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr4:7047600-7056400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:7047800-7051400	Weak transcription	K562	blood
25	chr4:7047800-7051800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr4:7047800-7055600	Genic enhancers	Primary T cells fromperipheralblood	blood
27	chr4:7047800-7056000	Weak transcription	Osteobl	bone
28	chr4:7047800-7062200	Weak transcription	Hela-S3	cervix
29	chr4:7048000-7052200	Enhancers	Pancreas	Pancrea
30	chr4:7048000-7053200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:7048000-7053800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:7048000-7053800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:7048000-7054200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:7048000-7054400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr4:7048000-7057000	Weak transcription	HMEC	breast
36	chr4:7048000-7062800	Weak transcription	Fetal Kidney	kidney
37	chr4:7048400-7050800	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:7048400-7051200	Weak transcription	Stomach Mucosa	stomach
39	chr4:7048400-7054000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr4:7048400-7055800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:7048600-7050200	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr4:7048600-7050600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:7048600-7051200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:7048600-7052800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr4:7048600-7055000	Weak transcription	Fetal Lung	lung
46	chr4:7048600-7055800	Weak transcription	Aorta	Aorta
47	chr4:7048600-7061400	Weak transcription	Small Intestine	intestine
48	chr4:7048600-7062600	Weak transcription	Fetal Brain Male	brain
49	chr4:7048800-7050600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr4:7048800-7054600	Strong transcription	Fetal Stomach	stomach

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