Variant report

Variant	rs6740893
Chromosome Location	chr2:54834380-54834381
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54823186..54826195-chr2:54832588..54835705,3	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10166844	0.89[EUR][1000 genomes]
rs10169954	0.90[EUR][1000 genomes]
rs10169975	0.90[EUR][1000 genomes]
rs10170066	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10170355	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10176359	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10176445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10182538	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10182836	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10183043	0.82[ASN][1000 genomes]
rs10183867	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10184128	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs10187338	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10188185	1.00[CHB][hapmap]
rs10188545	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10193692	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10205410	1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs10206143	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10208225	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10528	0.82[CHB][hapmap]
rs1137645	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11555856	0.86[ASN][1000 genomes]
rs11892236	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11892443	0.93[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11896957	0.95[ASN][1000 genomes]
rs11898032	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11898033	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11902987	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs11904679	0.84[CHB][hapmap]
rs12713264	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12713265	0.93[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12713266	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12713267	0.85[EUR][1000 genomes]
rs12713268	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12713269	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12713270	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12713271	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12713273	1.00[CHB][hapmap]
rs12713274	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13021615	0.82[CHB][hapmap]
rs13386146	0.93[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs13391522	0.93[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13391803	1.00[CHB][hapmap]
rs13399656	0.93[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs13403284	0.93[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13407214	0.87[EUR][1000 genomes]
rs13423873	0.88[EUR][1000 genomes]
rs13432302	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17039558	0.84[CHB][hapmap]
rs17045939	1.00[CHB][hapmap]
rs17046036	0.91[ASN][1000 genomes]
rs17046097	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs17046108	0.82[CHB][hapmap]
rs17046257	1.00[CHB][hapmap]
rs2048370	0.82[CHB][hapmap]
rs2229503	1.00[CHB][hapmap]
rs2271329	0.82[CHB][hapmap]
rs28581481	0.90[EUR][1000 genomes]
rs3287	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs354232	0.84[CHB][hapmap]
rs3739109	1.00[CHB][hapmap]
rs3796017	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3796018	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3796019	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs3796022	0.84[CHB][hapmap]
rs4261758	0.84[CHB][hapmap]
rs4319969	0.84[CHB][hapmap]
rs4346422	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs4347868	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4358162	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4374410	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4455200	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs4519566	0.80[ASN][1000 genomes]
rs4577321	0.80[ASN][1000 genomes]
rs4616509	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4641979	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58419243	0.91[ASN][1000 genomes]
rs6545430	1.00[CHB][hapmap]
rs6545435	1.00[CHB][hapmap]
rs6706263	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67079536	0.86[ASN][1000 genomes]
rs6721612	0.95[ASN][1000 genomes]
rs67244067	0.86[ASN][1000 genomes]
rs6730876	0.95[ASN][1000 genomes]
rs6734445	1.00[CHB][hapmap]
rs6734536	1.00[CHB][hapmap]
rs6739140	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6749802	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7340302	0.93[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs7424459	0.82[ASN][1000 genomes]
rs7556752	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7564719	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7569127	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7584223	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs7586311	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7591204	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7591231	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7599241	0.93[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs7608414	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54824600-54834400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:54824800-54834400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:54824800-54839200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:54826800-54834400	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr2:54827200-54839000	Weak transcription	Hela-S3	cervix
6	chr2:54827600-54834400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:54827600-54834400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr2:54827600-54839200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:54827600-54839200	Weak transcription	Dnd41	blood
10	chr2:54827800-54835600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr2:54828200-54834400	Enhancers	Brain Angular Gyrus	brain
12	chr2:54828400-54834600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr2:54829800-54834800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:54829800-54859800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:54830200-54835800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr2:54830400-54834400	Enhancers	Fetal Heart	heart
17	chr2:54830800-54839200	Weak transcription	Esophagus	oesophagus
18	chr2:54831000-54837800	Weak transcription	Osteobl	bone
19	chr2:54831200-54838000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:54831400-54837000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:54832200-54835000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:54832200-54836200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:54832200-54838200	Enhancers	Brain Hippocampus Middle	brain
24	chr2:54832200-54839200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:54832200-54839200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:54832200-54839200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:54832200-54840800	Weak transcription	K562	blood
28	chr2:54832400-54834400	Enhancers	Adipose Nuclei	Adipose
29	chr2:54832400-54837200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:54832400-54839200	Weak transcription	Placenta	Placenta
31	chr2:54832400-54843400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:54832400-54843800	Weak transcription	Brain Germinal Matrix	brain
33	chr2:54832600-54835800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr2:54832600-54837200	Weak transcription	HSMMtube	muscle
35	chr2:54832600-54839200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:54832800-54835400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:54832800-54839000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr2:54832800-54839600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr2:54833000-54835000	Weak transcription	Ovary	ovary
40	chr2:54833000-54836000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr2:54833000-54836600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:54833000-54837800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:54833000-54839400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:54833000-54839400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:54833000-54839400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr2:54833000-54839600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:54833000-54841000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:54833200-54835000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:54833200-54836600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:54833200-54836600	Weak transcription	Small Intestine	intestine

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