Variant report

Variant	rs35727311
Chromosome Location	chr2:11580317-11580318
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11573792..11575740-chr2:11578673..11581004,4	MCF-7	breast:
2	chr2:11578661..11580841-chr2:11582473..11584908,4	MCF-7	breast:
3	chr2:11271803..11274218-chr2:11577731..11580499,2	MCF-7	breast:
4	chr2:11578835..11581557-chr2:11582606..11584299,2	K562	blood:

Variant related genes	Relation type
ENSG00000145063	Chromatin interaction
ENSG00000150873	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10186511	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10929736	0.82[EUR][1000 genomes]
rs10929737	0.85[EUR][1000 genomes]
rs10929739	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10929740	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10929741	0.84[ASN][1000 genomes]
rs10929742	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674593	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11680919	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11682602	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11685543	0.89[ASN][1000 genomes]
rs11686138	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687681	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11691211	0.91[EUR][1000 genomes]
rs11693023	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11694857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12472962	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12611958	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12612948	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12613503	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12614218	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12615317	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12617534	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12988106	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12990560	0.85[EUR][1000 genomes]
rs12995996	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13007909	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34079430	0.82[EUR][1000 genomes]
rs34514099	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35053846	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35306821	0.99[ASN][1000 genomes]
rs35423645	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35818376	0.89[ASN][1000 genomes]
rs3922995	0.82[EUR][1000 genomes]
rs4292073	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4335920	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4491705	0.83[ASN][1000 genomes]
rs4553788	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4588159	0.82[EUR][1000 genomes]
rs57197575	0.85[EUR][1000 genomes]
rs61016299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432192	0.84[EUR][1000 genomes]
rs6432193	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432195	0.83[ASN][1000 genomes]
rs6432196	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6708001	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6708015	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6729114	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735687	0.80[EUR][1000 genomes]
rs6735707	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6736199	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6750266	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6750482	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6750499	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6751915	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7425786	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7556984	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7584175	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595697	0.86[EUR][1000 genomes]
rs9789694	0.82[AMR][1000 genomes];0.90[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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11546600-11584200	Weak transcription	Pancreas	Pancrea
2	chr2:11560400-11584000	Weak transcription	Aorta	Aorta
3	chr2:11562800-11582400	Weak transcription	Left Ventricle	heart
4	chr2:11563000-11583800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:11563000-11586800	Weak transcription	Psoas Muscle	Psoas
6	chr2:11563400-11581600	Weak transcription	Adipose Nuclei	Adipose
7	chr2:11569600-11581800	Weak transcription	HepG2	liver
8	chr2:11571200-11582600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:11571200-11582800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:11571400-11581800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:11571800-11581600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:11572400-11583800	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:11572600-11588600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:11573800-11582000	Strong transcription	A549	lung
15	chr2:11574000-11581800	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:11574000-11582400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:11574200-11583000	Weak transcription	K562	blood
18	chr2:11574600-11581800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:11575000-11584800	Weak transcription	Esophagus	oesophagus
20	chr2:11575200-11581800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:11575200-11584000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:11575400-11583800	Weak transcription	Osteobl	bone
23	chr2:11575600-11581600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:11575600-11583200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:11575600-11584000	Weak transcription	Right Ventricle	heart
26	chr2:11575600-11586800	Weak transcription	NHEK	skin
27	chr2:11575800-11584000	Weak transcription	HMEC	breast
28	chr2:11575800-11597000	Weak transcription	Fetal Heart	heart
29	chr2:11576000-11586800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr2:11576200-11581600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr2:11576400-11582600	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:11576400-11583800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:11576600-11586600	Weak transcription	Brain Substantia Nigra	brain
34	chr2:11576800-11583600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:11576800-11585000	Weak transcription	Hela-S3	cervix
36	chr2:11576800-11586600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:11577000-11580600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:11577000-11589200	Weak transcription	Small Intestine	intestine
39	chr2:11577200-11580600	Weak transcription	Placenta	Placenta
40	chr2:11577200-11582000	Weak transcription	Primary B cells from cord blood	blood
41	chr2:11577400-11581600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr2:11577400-11581800	Weak transcription	Liver	Liver
43	chr2:11577400-11581800	Weak transcription	Fetal Brain Female	brain
44	chr2:11577400-11581800	Weak transcription	Thymus	Thymus
45	chr2:11577400-11584400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:11577600-11580400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
47	chr2:11577600-11581400	Weak transcription	GM12878-XiMat	blood
48	chr2:11577600-11585000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr2:11577600-11603800	Weak transcription	Colonic Mucosa	Colon
50	chr2:11577800-11580600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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