Variant report

Variant	rs2968813
Chromosome Location	chr2:55328465-55328466
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55276735..55279463-chr2:55327258..55330571,3	K562	blood:
2	chr2:55323307..55326609-chr2:55326695..55329491,3	K562	blood:
3	chr2:55312676..55314647-chr2:55325733..55328474,2	K562	blood:
4	chr2:55327279..55331330-chr2:55337574..55341174,5	K562	blood:
5	chr2:55326388..55330538-chr2:55335061..55337994,3	K562	blood:
6	chr2:55326463..55328844-chr2:55338475..55342420,4	K562	blood:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction
ENSG00000266376	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10179594	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12989576	0.85[JPT][hapmap]
rs2580763	0.85[JPT][hapmap]
rs2580766	0.85[JPT][hapmap]
rs2588520	0.85[JPT][hapmap]
rs2919125	0.85[JPT][hapmap]
rs2920843	1.00[AMR][1000 genomes]
rs2920861	0.87[ASN][1000 genomes]
rs2920863	1.00[CHB][hapmap]
rs2920871	0.90[ASN][1000 genomes]
rs2920872	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920881	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2920883	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2920884	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2920889	0.87[ASN][1000 genomes]
rs2920890	0.87[ASN][1000 genomes]
rs2920897	1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs2920898	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs2968789	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2968807	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2968810	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968812	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968814	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968816	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2968823	0.87[ASN][1000 genomes]
rs2968824	0.87[ASN][1000 genomes]
rs2968826	0.87[ASN][1000 genomes]
rs2968829	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2968831	0.81[ASN][1000 genomes]
rs2972065	0.87[ASN][1000 genomes]
rs2972066	0.83[ASN][1000 genomes]
rs2972069	0.87[ASN][1000 genomes]
rs2972076	0.81[ASN][1000 genomes]
rs2972084	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2972085	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2972087	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2972091	0.83[AMR][1000 genomes];0.83[EUR][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	nsv1006172	chr2:55322883-55340812	Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2760568	chr2:55322895-55330350	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv2763510	chr2:55322895-55330350	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3345871	chr2:55323717-55336931	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3457756	chr2:55323755-55336917	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3457755	chr2:55323788-55336864	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3457757	chr2:55323788-55336864	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv9883	chr2:55323841-55336774	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv999212	chr2:55324276-55340812	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1004503	chr2:55324276-55343705	Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv997458	chr2:55324276-55344326	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1013316	chr2:55324276-55345262	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv2421886	chr2:55324288-55335045	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3693301	chr2:55324960-55335045	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv517331	chr2:55324960-55335045	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv817951	chr2:55324960-55335045	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv438350	chr2:55327091-55333235	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55318400-55329600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:55321600-55339400	Weak transcription	Thymus	Thymus
3	chr2:55321800-55336400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:55323600-55330000	Enhancers	HSMM	muscle
5	chr2:55323800-55329800	Enhancers	NH-A	brain
6	chr2:55325200-55340400	Weak transcription	Gastric	stomach
7	chr2:55325400-55330400	Weak transcription	Fetal Intestine Small	intestine
8	chr2:55326600-55329600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:55326600-55329600	Enhancers	NHEK	skin
10	chr2:55326600-55330000	Enhancers	Rectal Smooth Muscle	rectum
11	chr2:55326800-55330600	Enhancers	Stomach Smooth Muscle	stomach
12	chr2:55326800-55334600	Weak transcription	Brain Angular Gyrus	brain
13	chr2:55327000-55330800	Enhancers	Colon Smooth Muscle	Colon
14	chr2:55327200-55329600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:55327600-55328600	Weak transcription	HMEC	breast
16	chr2:55327600-55330400	Weak transcription	HepG2	liver
17	chr2:55327800-55328600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:55327800-55328600	Enhancers	NHDF-Ad	bronchial
19	chr2:55327800-55328800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:55327800-55328800	Enhancers	NHLF	lung
21	chr2:55327800-55329000	Enhancers	A549	lung
22	chr2:55327800-55329200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:55327800-55329200	Enhancers	Hela-S3	cervix
24	chr2:55327800-55329400	Weak transcription	Right Atrium	heart
25	chr2:55327800-55329600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:55327800-55329600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:55327800-55329600	Weak transcription	Aorta	Aorta
28	chr2:55327800-55329600	Weak transcription	Fetal Thymus	thymus
29	chr2:55327800-55329800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:55327800-55329800	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:55327800-55330000	Weak transcription	Left Ventricle	heart
32	chr2:55327800-55330200	Enhancers	HSMMtube	muscle
33	chr2:55327800-55330200	Enhancers	Osteobl	bone
34	chr2:55327800-55331000	Enhancers	HUVEC	blood vessel
35	chr2:55327800-55334600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:55327800-55335400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:55327800-55338600	Weak transcription	Lung	lung
38	chr2:55327800-55338600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr2:55328000-55328800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:55328000-55328800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:55328000-55329400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:55328000-55329600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr2:55328000-55329600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:55328000-55330600	Enhancers	Adipose Nuclei	Adipose
45	chr2:55328000-55330800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:55328000-55331200	Enhancers	Dnd41	blood
47	chr2:55328000-55333200	Weak transcription	Fetal Heart	heart
48	chr2:55328000-55334200	Weak transcription	Brain Substantia Nigra	brain
49	chr2:55328200-55328600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:55328200-55329400	Weak transcription	K562	blood

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