Variant report

Variant	rs739898
Chromosome Location	chr7:27913060-27913061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27910666..27913225-chr7:27921986..27924862,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10951186	0.95[CEU][hapmap]
rs12154776	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12531244	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs12531907	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12537135	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12700847	0.95[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12700848	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs13224500	0.89[EUR][1000 genomes]
rs13237769	0.89[EUR][1000 genomes]
rs17155954	0.95[CEU][hapmap];0.89[GIH][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs34015232	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35971552	0.91[EUR][1000 genomes]
rs4455744	0.86[EUR][1000 genomes]
rs57088391	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6963753	0.94[CEU][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs720659	0.83[GIH][hapmap]
rs7789880	0.89[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1018550	chr7:27844038-27925645	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs739898	HIBADH	Cis_1M	lymphoblastoid	RTeQTL
rs739898	HIBADH	cis	lymphoblastoid	seeQTL

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27880600-27913600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:27880800-27913200	Weak transcription	Aorta	Aorta
3	chr7:27896200-27913600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:27897200-27915200	Weak transcription	Gastric	stomach
5	chr7:27901200-27913400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:27901400-27913400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:27901400-27913800	Weak transcription	NHLF	lung
8	chr7:27903800-27913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:27903800-27913800	Weak transcription	HMEC	breast
10	chr7:27903800-27914000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:27904000-27913600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:27904000-27916400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:27904200-27913400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:27904200-27913600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:27904200-27913600	Weak transcription	Osteobl	bone
16	chr7:27906200-27933000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:27906600-27925400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:27907000-27930800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr7:27907600-27926000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:27908000-27935000	Weak transcription	Primary T cells from cord blood	blood
21	chr7:27908200-27913600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr7:27908200-27913800	Weak transcription	Esophagus	oesophagus
23	chr7:27908200-27932600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr7:27908600-27913800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr7:27908600-27917400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr7:27909200-27913600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:27909400-27916600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr7:27909400-27923600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:27909400-27923800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:27909400-27937200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:27910200-27915200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr7:27911000-27923600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:27911200-27913800	Enhancers	Fetal Stomach	stomach
34	chr7:27911400-27914000	Enhancers	Fetal Brain Female	brain
35	chr7:27911400-27914200	Enhancers	Brain Angular Gyrus	brain
36	chr7:27911400-27914400	Enhancers	Fetal Lung	lung
37	chr7:27911400-27914600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr7:27911400-27914800	Enhancers	Adipose Nuclei	Adipose
39	chr7:27911400-27915200	Enhancers	Fetal Muscle Leg	muscle
40	chr7:27911600-27914200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:27911600-27914600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:27911600-27915000	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr7:27911600-27915800	Enhancers	Colon Smooth Muscle	Colon
44	chr7:27911800-27913400	Enhancers	Brain Germinal Matrix	brain
45	chr7:27911800-27915000	Enhancers	Brain Substantia Nigra	brain
46	chr7:27911800-27915400	Enhancers	Brain Hippocampus Middle	brain
47	chr7:27911800-27915400	Enhancers	NHDF-Ad	bronchial
48	chr7:27912000-27914400	Enhancers	Brain Anterior Caudate	brain
49	chr7:27912000-27914600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:27912000-27915000	Enhancers	Liver	Liver

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