Variant report

Variant	rs4668729
Chromosome Location	chr2:11640935-11640936
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11639160..11641163-chr2:11820706..11822536,2	MCF-7	breast:
2	chr12:131506010..131507766-chr2:11639592..11642275,2	MCF-7	breast:
3	chr2:11624474..11626052-chr2:11639612..11642018,2	K562	blood:
4	chr2:11483004..11485278-chr2:11638232..11641196,2	MCF-7	breast:
5	chr2:11638999..11641397-chr2:11660488..11662917,2	K562	blood:

Variant related genes	Relation type
ENSG00000228496	Chromatin interaction
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10169987	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174895	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10192123	1.00[ASN][1000 genomes]
rs10201673	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10205078	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10929750	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11897533	1.00[ASN][1000 genomes]
rs12165170	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13383410	0.86[ASN][1000 genomes]
rs13388093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395155	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs13407457	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs13418262	0.86[ASN][1000 genomes]
rs13424905	0.86[ASN][1000 genomes]
rs13430148	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1595018	1.00[JPT][hapmap]
rs16857565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16857586	1.00[CEU][hapmap]
rs2002730	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2043542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082829	1.00[ASN][1000 genomes]
rs2082830	1.00[ASN][1000 genomes]
rs4669736	1.00[EUR][1000 genomes]
rs4669737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669740	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669741	0.87[ASN][1000 genomes]
rs58651473	1.00[EUR][1000 genomes]
rs61362255	0.86[ASN][1000 genomes]
rs6432202	1.00[CHB][hapmap]
rs6432209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728365	1.00[CEU][hapmap]
rs6739168	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741736	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756327	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73187472	0.86[ASN][1000 genomes]
rs7566661	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7597108	0.86[ASN][1000 genomes]
rs7597865	1.00[EUR][1000 genomes]
rs875231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs877164	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11636400-11646400	Weak transcription	Right Atrium	heart
2	chr2:11636600-11641200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:11638800-11641400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:11638800-11646200	Weak transcription	Psoas Muscle	Psoas
5	chr2:11639600-11641000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:11639600-11641000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:11639600-11641000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:11639600-11641000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:11639600-11641200	Weak transcription	Colonic Mucosa	Colon
10	chr2:11639600-11643000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:11639600-11643400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:11639600-11645400	Weak transcription	Pancreas	Pancrea
13	chr2:11639600-11646000	Weak transcription	Hela-S3	cervix
14	chr2:11639600-11646400	Weak transcription	Right Ventricle	heart
15	chr2:11639600-11647600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:11639600-11648200	Weak transcription	Stomach Mucosa	stomach
17	chr2:11639600-11655000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:11639800-11641000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:11639800-11646200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:11640000-11641000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:11640000-11641000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:11640000-11641000	Enhancers	HepG2	liver
23	chr2:11640000-11643000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:11640000-11643000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:11640000-11643000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:11640000-11643200	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:11640000-11646200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:11640000-11648000	Weak transcription	Fetal Heart	heart
29	chr2:11640600-11641000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:11640600-11641200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:11640600-11641200	Enhancers	Brain Substantia Nigra	brain
32	chr2:11640600-11641400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:11640600-11641400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr2:11640600-11641600	Flanking Active TSS	GM12878-XiMat	blood
35	chr2:11640800-11641000	Active TSS	Duodenum Mucosa	Duodenum
36	chr2:11640800-11641000	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr2:11640800-11641000	Flanking Bivalent TSS/Enh	Osteobl	bone
38	chr2:11640800-11641200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:11640800-11641200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:11640800-11641200	Flanking Active TSS	Liver	Liver
41	chr2:11640800-11641200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr2:11640800-11641200	Enhancers	A549	lung
43	chr2:11640800-11641400	Flanking Active TSS	Ovary	ovary
44	chr2:11640800-11641600	Enhancers	Adipose Nuclei	Adipose
45	chr2:11640800-11641600	Enhancers	Fetal Muscle Leg	muscle

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