Variant report

Variant	rs3128383
Chromosome Location	chr7:112122640-112122641
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr7:112120254-112122906	SK-N-SH	brain:	n/a	chr7:112122125-112122134 chr7:112122126-112122135 chr7:112121586-112121595
2	POLR2A	chr7:112122579-112122657	HUVEC	blood vessel:	n/a	n/a
3	RAD21	chr7:112122578-112122655	A549	lung:	n/a	n/a
4	CTCF	chr7:112122600-112122750	NHDF-neo	bronchial:	n/a	n/a
5	GATA3	chr7:112121491-112123117	MCF-7	breast:	n/a	chr7:112122918-112122925 chr7:112122918-112122925 chr7:112122918-112122925 chr7:112122911-112122932 chr7:112121587-112121596
6	JUND	chr7:112120254-112122702	SK-N-SH	brain:	n/a	chr7:112122127-112122134 chr7:112122126-112122134 chr7:112122370-112122382 chr7:112122126-112122135 chr7:112122338-112122348 chr7:112121586-112121594 chr7:112120853-112120862 chr7:112121585-112121595 chr7:112121586-112121593

No.	Distal block	Cell Line	Cell type
1	chr7:112089471..112094125-chr7:112120459..112123941,5	MCF-7	breast:
2	chr7:112121071..112126030-chr7:112126598..112131851,6	K562	blood:
3	chr7:112088943..112098465-chr7:112111106..112127214,31	K562	blood:
4	chr7:112120506..112122377-chr7:112122627..112125430,3	K562	blood:
5	chr7:112117720..112119517-chr7:112121271..112122829,2	K562	blood:
6	chr7:112121639..112123962-chr7:112132170..112134503,2	K562	blood:
7	chr7:112122239..112125298-chr7:112125883..112129241,4	MCF-7	breast:
8	chr7:112122370..112125277-chr7:112129500..112134032,5	K562	blood:
9	chr7:112089441..112091037-chr7:112120327..112123054,3	MCF-7	breast:

Variant related genes	Relation type
LSMEM1	TF binding region
ENSG00000006652	Chromatin interaction
ENSG00000181016	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16873394	0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs2708610	0.82[CEU][hapmap]
rs3128384	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3801795	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv1030033	chr7:112092709-112140430	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112100600-112135000	Weak transcription	Esophagus	oesophagus
2	chr7:112110600-112124600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:112111200-112127200	Weak transcription	Fetal Brain Male	brain
4	chr7:112112600-112129000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:112113200-112124600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr7:112113200-112124800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:112113200-112125000	Weak transcription	Right Ventricle	heart
8	chr7:112113400-112127600	Weak transcription	Spleen	Spleen
9	chr7:112114400-112132000	Weak transcription	HepG2	liver
10	chr7:112114600-112125000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:112116800-112132200	Weak transcription	Fetal Intestine Small	intestine
12	chr7:112117200-112125200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:112117200-112127200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:112117200-112128800	Weak transcription	Dnd41	blood
15	chr7:112117400-112124600	Weak transcription	Primary T cells from cord blood	blood
16	chr7:112117400-112124600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr7:112117400-112124800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:112117400-112130800	Weak transcription	Thymus	Thymus
19	chr7:112117600-112124800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:112117600-112125000	Weak transcription	Lung	lung
21	chr7:112117600-112125800	Weak transcription	Fetal Stomach	stomach
22	chr7:112117600-112131600	Weak transcription	Fetal Intestine Large	intestine
23	chr7:112117800-112123200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr7:112118000-112125000	Weak transcription	Placenta	Placenta
25	chr7:112118200-112124000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:112118200-112125000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:112118800-112141600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:112119800-112124800	Weak transcription	Fetal Thymus	thymus
29	chr7:112120200-112123000	Enhancers	Rectal Smooth Muscle	rectum
30	chr7:112120400-112123000	Enhancers	NH-A	brain
31	chr7:112120600-112122800	Enhancers	Colon Smooth Muscle	Colon
32	chr7:112120600-112122800	Enhancers	HMEC	breast
33	chr7:112120600-112122800	Enhancers	NHLF	lung
34	chr7:112120600-112123000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:112120600-112123000	Enhancers	Osteobl	bone
36	chr7:112120600-112123600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr7:112120600-112126200	Enhancers	NHDF-Ad	bronchial
38	chr7:112120800-112123400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:112120800-112124800	Enhancers	Hela-S3	cervix
40	chr7:112120800-112126000	Weak transcription	Primary B cells from cord blood	blood
41	chr7:112121000-112123000	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr7:112121000-112123600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:112121000-112124800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:112121000-112124800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr7:112121000-112124800	Weak transcription	Left Ventricle	heart
46	chr7:112121000-112124800	Weak transcription	Pancreas	Pancrea
47	chr7:112121000-112126000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:112121000-112126000	Enhancers	Fetal Heart	heart
49	chr7:112121000-112136200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr7:112121200-112122800	Enhancers	NHEK	skin

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