Variant report

Variant	rs12635494
Chromosome Location	chr3:46006285-46006286
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46002701..46006681-chr3:46007479..46011297,4	K562	blood:
2	chr3:46000436..46002879-chr3:46005170..46007859,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1072755	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11130080	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12630101	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12635657	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12639598	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13066048	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13091821	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13091979	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1392291	0.95[ASN][1000 genomes]
rs1532071	0.86[ASN][1000 genomes]
rs1552489	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1552490	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1601867	0.88[ASN][1000 genomes]
rs17078495	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1994488	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1994489	0.86[ASN][1000 genomes]
rs1994490	1.00[ASN][1000 genomes]
rs2054866	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2234358	0.87[ASN][1000 genomes]
rs2248228	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2291470	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28808964	0.81[ASN][1000 genomes]
rs35465473	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35537559	0.93[ASN][1000 genomes]
rs3733097	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3733100	1.00[ASN][1000 genomes]
rs3733103	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3774634	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3774635	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3774639	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3796375	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3796376	0.83[ASN][1000 genomes]
rs3821884	0.96[ASN][1000 genomes]
rs4234452	0.81[ASN][1000 genomes]
rs4535265	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4682799	0.86[ASN][1000 genomes]
rs4682800	0.86[ASN][1000 genomes]
rs4683148	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4683149	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4683152	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4683154	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4683156	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4683157	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59226168	0.93[ASN][1000 genomes]
rs60539039	0.83[ASN][1000 genomes]
rs62242796	0.93[ASN][1000 genomes]
rs67044455	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6778896	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7129	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs730983	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs737452	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs751552	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs751553	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9311380	0.86[ASN][1000 genomes]
rs931704	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs936938	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9824253	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9831315	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv834678	chr3:45804294-46010256	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv876736	chr3:45900621-46027410	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr3:45959400-46009800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:45980800-46013400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr3:45981600-46025000	Strong transcription	Fetal Intestine Large	intestine
4	chr3:45983200-46012400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr3:45986200-46006800	Strong transcription	Fetal Intestine Small	intestine
6	chr3:45986200-46007600	Strong transcription	Fetal Stomach	stomach
7	chr3:45986400-46006800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr3:45986400-46007600	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr3:45986400-46012200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:45986400-46026600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:45986600-46009000	Strong transcription	Primary B cells from cord blood	blood
12	chr3:45986600-46012000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr3:45986600-46026800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:45986800-46012200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr3:45987200-46013600	Strong transcription	Primary hematopoietic stem cells	blood
16	chr3:45987200-46027200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:45987400-46026600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr3:45987600-46007800	Strong transcription	K562	blood
19	chr3:45987800-46012200	Strong transcription	HepG2	liver
20	chr3:45987800-46026400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:45987800-46026800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:45987800-46027200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr3:45988000-46012000	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr3:45988000-46026600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:45988200-46009800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:45988200-46012000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:45988800-46011800	Strong transcription	Lung	lung
28	chr3:45989400-46013800	Strong transcription	Dnd41	blood
29	chr3:45990600-46017200	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr3:45991200-46006800	Strong transcription	HSMMtube	muscle
31	chr3:45991200-46012000	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr3:45991200-46017400	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr3:45991400-46009800	Strong transcription	Aorta	Aorta
34	chr3:45991400-46009800	Strong transcription	NHLF	lung
35	chr3:45992600-46013200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:45992600-46013600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:45992800-46006400	Strong transcription	Primary T cells from cord blood	blood
38	chr3:45993000-46013600	Strong transcription	Thymus	Thymus
39	chr3:45993200-46007000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr3:45994200-46007600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr3:45994400-46007600	Strong transcription	Adipose Nuclei	Adipose
42	chr3:45994400-46008000	Strong transcription	Placenta	Placenta
43	chr3:45995000-46007400	Strong transcription	HUVEC	blood vessel
44	chr3:45995400-46008400	Weak transcription	Fetal Brain Male	brain
45	chr3:45996200-46025400	Strong transcription	Liver	Liver
46	chr3:45998400-46009600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr3:45998800-46008400	Strong transcription	Colonic Mucosa	Colon
48	chr3:45999000-46008000	Strong transcription	Gastric	stomach
49	chr3:45999200-46010600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr3:45999200-46011600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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