Variant report

Variant	rs6721970
Chromosome Location	chr2:54347902-54347903
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54341176..54344555-chr2:54346430..54350020,7	K562	blood:
2	chr2:54294456..54296366-chr2:54347167..54348766,2	K562	blood:
3	chr2:54341176..54343229-chr2:54346629..54349067,2	K562	blood:
4	chr2:54195752..54197966-chr2:54347709..54349839,3	K562	blood:

Variant related genes	Relation type
ENSG00000170634	Chromatin interaction
ENSG00000068878	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10496028	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1075264	0.92[ASN][1000 genomes]
rs11676462	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11890838	0.87[CHB][hapmap]
rs11896815	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs17039547	0.89[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.83[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17045452	0.81[MEX][hapmap]
rs17045474	0.86[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes]
rs17045488	0.86[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes]
rs1877907	0.86[ASN][1000 genomes]
rs1877908	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs2287639	0.85[ASN][1000 genomes]
rs2287643	0.95[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2357896	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2909459	0.92[YRI][hapmap]
rs34498089	0.91[CEU][hapmap];0.81[CHB][hapmap];0.83[CHD][hapmap];1.00[LWK][hapmap];0.84[MKK][hapmap];0.86[TSI][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34773403	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4671861	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55649409	0.88[AMR][1000 genomes]
rs55705819	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56193146	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62137964	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62137976	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62137980	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62140990	0.84[AMR][1000 genomes]
rs62141002	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6545386	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6706363	0.84[ASN][1000 genomes]
rs6713088	0.87[CHB][hapmap];0.92[ASN][1000 genomes]
rs6751105	0.87[CHB][hapmap];0.80[CHD][hapmap];0.89[ASN][1000 genomes]
rs7559380	0.89[ASN][1000 genomes]
rs7565453	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7573551	0.87[AMR][1000 genomes]
rs7576901	0.87[AMR][1000 genomes]
rs7590819	0.84[AMR][1000 genomes]
rs805338	0.92[YRI][hapmap]
rs805352	0.80[ASW][hapmap]
rs805365	0.80[ASW][hapmap]
rs805446	0.92[YRI][hapmap]
rs805449	0.91[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv431069	chr2:54260132-54434049	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	esv1851003	chr2:54324701-54372931	Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
10	nsv1007731	chr2:54331179-54452329	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	nsv535723	chr2:54331179-54452329	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
12	nsv961690	chr2:54339295-54359290	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
13	nsv1006984	chr2:54343466-54384094	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	nsv874148	chr2:54344325-54432222	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	nsv1000652	chr2:54345892-54469703	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv1003889	chr2:54347750-54424601	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6721970	ACYP2	cis	multi-tissue	Pritchard

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54343200-54350600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:54343400-54348000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr2:54343400-54348000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:54343400-54348000	Weak transcription	Right Atrium	heart
5	chr2:54343400-54349000	Weak transcription	HSMMtube	muscle
6	chr2:54343400-54349400	Weak transcription	Psoas Muscle	Psoas
7	chr2:54343400-54349600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:54343400-54351000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr2:54343400-54353000	Weak transcription	Fetal Lung	lung
10	chr2:54343400-54388600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:54343600-54348000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:54343600-54348000	Weak transcription	Adipose Nuclei	Adipose
13	chr2:54343600-54348000	Weak transcription	NHLF	lung
14	chr2:54343600-54349000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:54343600-54349400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:54343600-54350000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:54343600-54350600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:54343800-54349000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:54343800-54349000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:54343800-54349400	Weak transcription	Fetal Heart	heart
21	chr2:54343800-54355800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr2:54344000-54348000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:54344000-54348000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:54344000-54349000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:54344000-54349800	Weak transcription	Primary T cells from cord blood	blood
26	chr2:54344000-54349800	Weak transcription	Hela-S3	cervix
27	chr2:54344200-54348000	Weak transcription	HepG2	liver
28	chr2:54344400-54348800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:54346800-54348400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr2:54347000-54348600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:54347000-54349400	ZNF genes & repeats	Primary B cells from cord blood	blood
32	chr2:54347200-54348400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr2:54347400-54348000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:54347400-54349200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
35	chr2:54347600-54348000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
36	chr2:54347600-54348200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:54347600-54348200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:54347600-54348400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:54347600-54348400	ZNF genes & repeats	Fetal Stomach	stomach
40	chr2:54347600-54348400	ZNF genes & repeats	Thymus	Thymus
41	chr2:54347600-54348600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:54347600-54348600	ZNF genes & repeats	Fetal Muscle Leg	muscle
43	chr2:54347800-54348200	ZNF genes & repeats	Aorta	Aorta
44	chr2:54347800-54348200	ZNF genes & repeats	Brain Substantia Nigra	brain
45	chr2:54347800-54348200	Genic enhancers	Gastric	stomach
46	chr2:54347800-54348200	ZNF genes & repeats	Lung	lung
47	chr2:54347800-54348200	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:54347800-54348400	Strong transcription	Brain Anterior Caudate	brain
49	chr2:54347800-54348400	ZNF genes & repeats	Fetal Brain Female	brain
50	chr2:54347800-54348400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links