Variant report

Variant	rs9770199
Chromosome Location	chr7:39834517-39834518
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10231605	0.93[ASN][1000 genomes]
rs10240817	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12111962	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13233709	0.87[ASN][1000 genomes]
rs1811208	0.88[ASN][1000 genomes]
rs1812038	0.86[ASN][1000 genomes]
rs1964239	0.82[ASN][1000 genomes]
rs2008803	0.93[ASN][1000 genomes]
rs34326443	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3873649	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4723903	0.88[ASN][1000 genomes]
rs4723906	0.83[ASN][1000 genomes]
rs6462946	0.92[ASN][1000 genomes]
rs6462948	0.93[ASN][1000 genomes]
rs71536648	0.93[ASN][1000 genomes]
rs71536651	0.97[ASN][1000 genomes]
rs73379510	0.92[ASN][1000 genomes]
rs9690392	0.86[ASN][1000 genomes]
rs9769590	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9770412	0.81[ASN][1000 genomes]
rs9770818	0.84[ASN][1000 genomes]

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	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv970820	chr7:39797964-39839303	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv5708	chr7:39814330-39855535	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv981627	chr7:39819869-39837441	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv887974	chr7:39827400-39956829	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39794200-39837400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:39802000-39835200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr7:39802800-39835000	Weak transcription	Brain Hippocampus Middle	brain
4	chr7:39810600-39837200	Weak transcription	Brain Substantia Nigra	brain
5	chr7:39811000-39835800	Weak transcription	Brain Germinal Matrix	brain
6	chr7:39812400-39837400	Weak transcription	Fetal Intestine Large	intestine
7	chr7:39812400-39837600	Weak transcription	Spleen	Spleen
8	chr7:39821400-39839000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr7:39821600-39835600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:39822000-39834600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:39822200-39835000	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:39822800-39836200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr7:39828800-39836400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:39829200-39835000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:39830400-39836600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr7:39830800-39836000	Strong transcription	Fetal Intestine Small	intestine
17	chr7:39831000-39839800	Weak transcription	Right Ventricle	heart
18	chr7:39831200-39835200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:39831400-39834600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:39831400-39838200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:39831800-39835000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:39831800-39836200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr7:39831800-39837400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:39831800-39837400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:39831800-39837600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:39831800-39838800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:39831800-39838800	Weak transcription	Ovary	ovary
28	chr7:39832000-39834800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:39832000-39836200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:39832000-39837600	Weak transcription	Pancreas	Pancrea
31	chr7:39832200-39836000	Weak transcription	Placenta	Placenta
32	chr7:39832400-39835200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:39833200-39834800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr7:39833200-39834800	Weak transcription	Aorta	Aorta
35	chr7:39833200-39835800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:39833200-39838200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:39833200-39842400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:39833400-39835800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:39833400-39837600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:39833600-39835200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:39833600-39835200	Weak transcription	Thymus	Thymus
42	chr7:39833600-39835400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:39833600-39835800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:39833600-39836800	Weak transcription	Fetal Stomach	stomach
45	chr7:39833600-39837400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:39833600-39837800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:39833600-39838200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:39833600-39839000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr7:39833600-39845000	Weak transcription	Esophagus	oesophagus
50	chr7:39833800-39837000	Weak transcription	Gastric	stomach

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