Variant report

Variant	rs7429748
Chromosome Location	chr3:120423635-120423636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:120422558..120425375-chr3:120433128..120435266,2	K562	blood:
2	chr3:120421115..120423893-chr3:120461818..120463428,2	K562	blood:
3	chr3:120422558..120426299-chr3:120432235..120435266,4	K562	blood:

Variant related genes	Relation type
ENSG00000144840	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10934532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12489104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2288096	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72625420	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7430785	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv877377	chr3:120287683-120426750	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv829699	chr3:120308332-120484695	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
7	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv877378	chr3:120381530-120606438	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120397800-120424800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:120398200-120427000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:120398200-120427800	Weak transcription	Placenta	Placenta
4	chr3:120398200-120430200	Weak transcription	NHEK	skin
5	chr3:120398200-120438000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr3:120398800-120442200	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:120401000-120424800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:120402800-120456600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:120403600-120423800	Weak transcription	Spleen	Spleen
10	chr3:120405600-120436800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr3:120406400-120436600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr3:120408400-120429400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:120408600-120427400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:120411000-120436600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr3:120412600-120424400	Weak transcription	HMEC	breast
16	chr3:120412600-120425400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:120412800-120425200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:120412800-120425600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:120412800-120426600	Weak transcription	Brain Angular Gyrus	brain
20	chr3:120412800-120435600	Weak transcription	NH-A	brain
21	chr3:120412800-120438000	Weak transcription	Fetal Intestine Small	intestine
22	chr3:120414400-120425000	Weak transcription	Brain Germinal Matrix	brain
23	chr3:120415000-120438000	Weak transcription	HepG2	liver
24	chr3:120415400-120425800	Weak transcription	A549	lung
25	chr3:120416400-120436800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr3:120416400-120437200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:120416400-120437800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:120416400-120460600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:120416600-120424200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr3:120416600-120424600	Weak transcription	Liver	Liver
31	chr3:120416600-120438000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:120416800-120460600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr3:120417000-120427600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr3:120417600-120456600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr3:120418800-120426200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr3:120418800-120429400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr3:120419000-120450800	Weak transcription	Brain Hippocampus Middle	brain
38	chr3:120419200-120424800	Weak transcription	Brain Substantia Nigra	brain
39	chr3:120420200-120428800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:120420600-120425200	Strong transcription	Primary B cells from cord blood	blood
41	chr3:120420800-120425000	Strong transcription	Primary hematopoietic stem cells	blood
42	chr3:120421200-120424400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr3:120421800-120424800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr3:120422000-120424000	Weak transcription	Esophagus	oesophagus
45	chr3:120422000-120426600	Weak transcription	Aorta	Aorta
46	chr3:120422000-120427400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr3:120422000-120438000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr3:120422000-120438000	Weak transcription	Fetal Stomach	stomach
49	chr3:120422000-120438000	Weak transcription	Fetal Thymus	thymus
50	chr3:120422000-120438000	Weak transcription	Left Ventricle	heart

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