Variant report

Variant	rs2101446
Chromosome Location	chr3:46032959-46032960
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	chr3:46023503..46025098-chr3:46030445..46033156,2	K562	blood:
2	chr3:46026501..46029475-chr3:46032165..46035137,4	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1388605	0.83[EUR][1000 genomes]
rs1388606	0.82[EUR][1000 genomes]
rs1388608	0.82[EUR][1000 genomes]
rs1392288	0.90[EUR][1000 genomes]
rs1491949	0.82[EUR][1000 genomes]
rs1546076	0.81[EUR][1000 genomes]
rs1566419	0.82[EUR][1000 genomes]
rs1809733	0.82[EUR][1000 genomes]
rs1826342	0.82[EUR][1000 genomes]
rs1873616	0.81[EUR][1000 genomes]
rs2373149	0.82[EUR][1000 genomes]
rs2373152	0.81[EUR][1000 genomes]
rs4682801	0.97[EUR][1000 genomes]
rs4682811	0.81[EUR][1000 genomes]
rs4683158	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4683177	0.82[EUR][1000 genomes]
rs6441938	0.82[EUR][1000 genomes]
rs6767559	0.82[EUR][1000 genomes]
rs6802312	0.99[EUR][1000 genomes]
rs6807578	0.81[EUR][1000 genomes]
rs6808712	0.82[EUR][1000 genomes]
rs7610953	0.83[EUR][1000 genomes]
rs7622333	0.83[EUR][1000 genomes]
rs7625348	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7653682	0.99[EUR][1000 genomes]
rs902760	0.82[EUR][1000 genomes]
rs904634	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9311388	0.82[EUR][1000 genomes]
rs9820016	0.82[EUR][1000 genomes]
rs9849771	0.91[AMR][1000 genomes]
rs9869458	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1805205	chr3:46032847-46111081	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46010200-46033000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:46013600-46034000	Genic enhancers	Fetal Thymus	thymus
3	chr3:46020000-46034200	Genic enhancers	Dnd41	blood
4	chr3:46021400-46036200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:46021600-46034000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:46025600-46033000	Enhancers	Right Ventricle	heart
7	chr3:46026400-46033800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr3:46026400-46034600	Genic enhancers	Primary T cells fromperipheralblood	blood
9	chr3:46026600-46033000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:46026600-46033000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr3:46026600-46033000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr3:46026600-46036200	Enhancers	Left Ventricle	heart
13	chr3:46026800-46033400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:46026800-46033600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr3:46026800-46033800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:46026800-46035600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:46027200-46033400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr3:46027200-46036000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:46027600-46033000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr3:46027600-46033400	Weak transcription	GM12878-XiMat	blood
21	chr3:46027600-46034400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr3:46027800-46033800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr3:46027800-46034000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr3:46028000-46034400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr3:46028200-46034600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr3:46028400-46035400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr3:46028800-46033000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr3:46029400-46036200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:46029400-46036200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr3:46029400-46036200	Weak transcription	A549	lung
31	chr3:46029800-46033000	Weak transcription	Primary T cells from cord blood	blood
32	chr3:46029800-46035800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:46029800-46036000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr3:46029800-46036000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:46030000-46033600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr3:46030000-46033600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:46030000-46033600	Weak transcription	Colonic Mucosa	Colon
38	chr3:46030000-46033600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr3:46030000-46034000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr3:46030000-46034400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:46030000-46034600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:46030000-46034600	Enhancers	Colon Smooth Muscle	Colon
43	chr3:46030000-46036000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:46030000-46036000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr3:46030200-46035000	Weak transcription	Fetal Lung	lung
46	chr3:46030200-46036200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr3:46030600-46033000	Weak transcription	Primary B cells from cord blood	blood
48	chr3:46030600-46033400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr3:46030600-46033800	Enhancers	K562	blood
50	chr3:46030600-46036000	Weak transcription	Fetal Intestine Small	intestine

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