Variant report

Variant	rs6697077
Chromosome Location	chr1:94052612-94052613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12059142	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12062278	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12069192	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12093585	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12093959	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72963327	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72963332	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72963341	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94025600-94073800	Weak transcription	Fetal Brain Female	brain
2	chr1:94032000-94053600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:94038400-94054000	Weak transcription	Brain Substantia Nigra	brain
4	chr1:94038400-94054800	Weak transcription	Brain Angular Gyrus	brain
5	chr1:94038600-94054200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:94040000-94055000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:94041800-94059400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:94042000-94054800	Weak transcription	Primary B cells from cord blood	blood
9	chr1:94042200-94063200	Weak transcription	Brain Germinal Matrix	brain
10	chr1:94042800-94053000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:94043000-94058400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:94045400-94053600	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:94046600-94058200	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:94047200-94053600	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr1:94047400-94053400	Strong transcription	HUVEC	blood vessel
16	chr1:94048200-94054600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:94048200-94059200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:94048200-94059400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:94048400-94053200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:94048400-94059600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:94048600-94064200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:94048800-94053800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:94049600-94053600	Enhancers	Fetal Heart	heart
24	chr1:94049600-94059400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:94050000-94054800	Weak transcription	GM12878-XiMat	blood
26	chr1:94050000-94056200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:94050000-94059400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:94050400-94053000	Weak transcription	Gastric	stomach
29	chr1:94050400-94053000	Genic enhancers	NHEK	skin
30	chr1:94050600-94055600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:94050800-94052800	Weak transcription	Right Ventricle	heart
32	chr1:94050800-94053000	Enhancers	Fetal Intestine Large	intestine
33	chr1:94050800-94053000	Enhancers	Fetal Intestine Small	intestine
34	chr1:94050800-94053000	Weak transcription	Fetal Stomach	stomach
35	chr1:94050800-94053800	Weak transcription	Spleen	Spleen
36	chr1:94050800-94054600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:94050800-94057800	Weak transcription	Small Intestine	intestine
38	chr1:94050800-94059200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr1:94051000-94052800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr1:94051000-94053000	Weak transcription	Esophagus	oesophagus
41	chr1:94051000-94053400	Weak transcription	Ovary	ovary
42	chr1:94051000-94053400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:94051000-94054200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:94051000-94056800	Weak transcription	Fetal Thymus	thymus
45	chr1:94051200-94052800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr1:94051200-94053400	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:94051200-94053600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:94051200-94053600	Weak transcription	Psoas Muscle	Psoas
49	chr1:94051200-94057200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:94051200-94057200	Weak transcription	Fetal Kidney	kidney

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