Variant report

Variant	rs2095969
Chromosome Location	chr3:194957947-194957948
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194943164..194945109-chr3:194956482..194959428,2	K562	blood:
2	chr3:194942154..194945109-chr3:194956482..194959428,3	K562	blood:
3	chr3:194956917..194959266-chr3:194967812..194970352,2	K562	blood:
4	chr3:194956680..194958904-chr3:194960408..194963314,3	K562	blood:

Variant related genes	Relation type
ENSG00000173950	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11917903	1.00[AMR][1000 genomes]
rs11918729	1.00[AMR][1000 genomes]
rs11926961	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11927806	0.85[AFR][1000 genomes]
rs55716204	1.00[AMR][1000 genomes]
rs56309159	1.00[AMR][1000 genomes]
rs56911559	1.00[AMR][1000 genomes]
rs57367947	1.00[AMR][1000 genomes]
rs58212573	1.00[AMR][1000 genomes]
rs58381246	1.00[AMR][1000 genomes]
rs60222890	1.00[AMR][1000 genomes]
rs60284665	1.00[AMR][1000 genomes]
rs60560609	1.00[AMR][1000 genomes]
rs60584652	1.00[AMR][1000 genomes]
rs6437461	1.00[AMR][1000 genomes]
rs6764918	1.00[AMR][1000 genomes]
rs6779124	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6779129	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6779217	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6790118	1.00[AMR][1000 genomes]
rs6790784	1.00[AMR][1000 genomes]
rs6809102	1.00[AMR][1000 genomes]
rs73067069	1.00[AMR][1000 genomes]
rs73067076	1.00[AMR][1000 genomes]
rs73067078	1.00[AMR][1000 genomes]
rs73067082	1.00[AMR][1000 genomes]
rs73067084	1.00[AMR][1000 genomes]
rs73890763	1.00[AMR][1000 genomes]
rs73890764	1.00[AMR][1000 genomes]
rs73890767	1.00[AMR][1000 genomes]
rs73890778	1.00[AMR][1000 genomes]
rs73890782	1.00[AMR][1000 genomes]
rs73890784	1.00[AMR][1000 genomes]
rs73890791	1.00[AMR][1000 genomes]
rs73890793	1.00[AMR][1000 genomes]
rs73890826	1.00[AMR][1000 genomes]
rs73890827	1.00[AMR][1000 genomes]
rs73893622	1.00[AMR][1000 genomes]
rs73893623	1.00[AMR][1000 genomes]
rs73893628	1.00[AMR][1000 genomes]
rs7649610	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
7	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
8	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
9	nsv1009120	chr3:194874494-194974672	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1010168	chr3:194874494-195135790	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv536877	chr3:194874494-195135790	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv997956	chr3:194879534-195087539	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv536878	chr3:194879534-195087539	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	esv1832781	chr3:194902818-195528226	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
15	nsv432508	chr3:194916131-195478861	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
16	nsv432510	chr3:194935314-195478861	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
17	nsv984539	chr3:194945800-194984579	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194931600-194958800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:194940600-194959000	Weak transcription	Right Ventricle	heart
3	chr3:194944600-194959000	Weak transcription	Ovary	ovary
4	chr3:194945200-194958800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr3:194945200-194959200	Weak transcription	NHLF	lung
6	chr3:194945400-194958800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr3:194945400-194959200	Weak transcription	Osteobl	bone
8	chr3:194945400-194971600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr3:194945600-194959000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:194946000-194958800	Weak transcription	Aorta	Aorta
11	chr3:194946000-194958800	Weak transcription	Colon Smooth Muscle	Colon
12	chr3:194946000-194959000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:194946000-194971400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:194947000-194959000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:194947600-194962200	Weak transcription	Hela-S3	cervix
16	chr3:194947800-194958800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:194947800-194959000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:194947800-194959400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr3:194947800-194961200	Weak transcription	Gastric	stomach
20	chr3:194948000-194958800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:194948000-194959000	Weak transcription	Lung	lung
22	chr3:194948200-194959000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:194948200-194959200	Weak transcription	HUVEC	blood vessel
24	chr3:194948400-194959400	Weak transcription	Fetal Brain Female	brain
25	chr3:194948600-194958800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:194949000-194959000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr3:194951200-194958800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr3:194955000-194973200	Weak transcription	NH-A	brain
29	chr3:194955200-194958800	Weak transcription	Fetal Brain Male	brain
30	chr3:194955400-194959200	Weak transcription	Fetal Lung	lung
31	chr3:194955600-194958800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:194956400-194958400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:194956400-194959000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:194956400-194966800	Weak transcription	HSMM	muscle
35	chr3:194956600-194958400	ZNF genes & repeats	Liver	Liver
36	chr3:194956600-194958600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr3:194956600-194958800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:194956600-194972800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr3:194956800-194958000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:194956800-194958000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:194957000-194958000	Weak transcription	K562	blood
42	chr3:194957000-194958200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:194957000-194958200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr3:194957000-194958200	ZNF genes & repeats	Fetal Stomach	stomach
45	chr3:194957000-194959200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
46	chr3:194957000-194959600	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr3:194957200-194958000	Enhancers	Stomach Smooth Muscle	stomach
48	chr3:194957200-194958200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:194957200-194958200	ZNF genes & repeats	Fetal Thymus	thymus
50	chr3:194957200-194971800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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