Variant report

Variant	rs34456221
Chromosome Location	chr7:117379128-117379129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10487375	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10953849	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10953850	0.95[EUR][1000 genomes]
rs11767812	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11974874	0.95[EUR][1000 genomes]
rs12111635	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12112085	0.95[EUR][1000 genomes]
rs17140422	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17140425	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28537841	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34021261	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34061504	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34150886	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34276731	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34292695	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34298238	0.95[EUR][1000 genomes]
rs34849507	0.93[EUR][1000 genomes]
rs34872021	0.93[EUR][1000 genomes]
rs35002306	0.95[EUR][1000 genomes]
rs35205358	0.95[EUR][1000 genomes]
rs35583564	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35638149	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35850544	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36026875	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7777671	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7791416	0.93[EUR][1000 genomes]
rs7793937	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs916931	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs929667	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]

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	nsv464695	chr7:117342771-117393516	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv608258	chr7:117342771-117393516	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117349600-117385000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:117353200-117384600	Weak transcription	Ovary	ovary
3	chr7:117354800-117417200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:117355000-117382800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:117356200-117431400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:117358400-117398800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:117359200-117402600	Weak transcription	Spleen	Spleen
8	chr7:117362600-117394000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:117363200-117401000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:117365400-117380800	Weak transcription	Fetal Brain Male	brain
11	chr7:117365600-117407000	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:117369600-117384000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:117370400-117380000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:117371600-117381600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:117371800-117396000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:117372000-117380200	Weak transcription	Fetal Intestine Large	intestine
17	chr7:117372000-117395800	Weak transcription	Fetal Intestine Small	intestine
18	chr7:117373200-117379400	Strong transcription	Fetal Lung	lung
19	chr7:117374400-117393800	Weak transcription	Fetal Heart	heart
20	chr7:117374600-117380800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr7:117374800-117384800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr7:117375000-117410800	Weak transcription	Left Ventricle	heart
23	chr7:117375200-117380400	Weak transcription	NHLF	lung
24	chr7:117375200-117380600	Weak transcription	Adipose Nuclei	Adipose
25	chr7:117375200-117380800	Weak transcription	Aorta	Aorta
26	chr7:117375200-117382000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:117375200-117395800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:117375200-117395800	Weak transcription	Pancreas	Pancrea
29	chr7:117375200-117431600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:117375400-117379400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:117375400-117384400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:117375400-117396000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:117375400-117402600	Weak transcription	Esophagus	oesophagus
34	chr7:117375600-117384400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:117375800-117406800	Weak transcription	Fetal Kidney	kidney
36	chr7:117376400-117385800	Strong transcription	Fetal Brain Female	brain
37	chr7:117377200-117380400	Enhancers	Brain Cingulate Gyrus	brain
38	chr7:117377400-117379400	Enhancers	Brain Substantia Nigra	brain
39	chr7:117378000-117386000	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:117378000-117389600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr7:117378200-117380000	Strong transcription	Brain Germinal Matrix	brain
42	chr7:117378400-117379400	Genic enhancers	Brain Anterior Caudate	brain
43	chr7:117378400-117380000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:117378600-117379200	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr7:117378600-117379400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:117378600-117379400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:117378600-117381400	Genic enhancers	Brain Inferior Temporal Lobe	brain
48	chr7:117378600-117383400	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr7:117378600-117384600	Weak transcription	Brain Angular Gyrus	brain
50	chr7:117378800-117381000	Weak transcription	Fetal Stomach	stomach

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