Variant report

Variant	rs2415533
Chromosome Location	chr14:39582695-39582696
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr14:39582683-39582883	K562	blood:	n/a	chr14:39582858-39582869 chr14:39582857-39582871 chr14:39582860-39582874 chr14:39582859-39582870 chr14:39582859-39582872 chr14:39582858-39582872 chr14:39582860-39582870
2	CEBPB	chr14:39582184-39582705	A549	lung:	n/a	n/a
3	HCFC1	chr14:39582267-39584355	Hela-S3	cervix:	n/a	n/a
4	STAT3	chr14:39582483-39582931	MCF10A-Er-Src	breast:	n/a	chr14:39582859-39582870

No.	Distal block	Cell Line	Cell type
1	chr14:39580731..39583379-chr14:39639659..39641422,2	K562	blood:
2	chr14:39582528..39584759-chr14:39643385..39645029,2	K562	blood:
3	chr14:39576571..39578731-chr14:39581364..39582921,2	MCF-7	breast:
4	chr14:39582116..39585012-chr14:39643452..39645860,4	MCF-7	breast:
5	chr14:39582047..39584964-chr14:39643383..39645099,4	K562	blood:
6	chr14:39582622..39586619-chr14:39638047..39642701,6	MCF-7	breast:
7	chr14:39581660..39583614-chr5:118323067..118325473,2	MCF-7	breast:
8	chr14:39581109..39582848-chr14:39652631..39654902,2	K562	blood:

Variant related genes	Relation type
SEC23A	TF binding region
GEMIN2	TF binding region
ENSG00000258591	Chromatin interaction
ENSG00000169570	Chromatin interaction
ENSG00000100941	Chromatin interaction
ENSG00000259083	Chromatin interaction
ENSG00000182400	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs12882909	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12883114	0.87[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12891260	0.85[ASN][1000 genomes]
rs12891438	0.85[ASN][1000 genomes]
rs12896384	0.85[ASN][1000 genomes]
rs12896963	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12897263	0.85[ASN][1000 genomes]
rs12897381	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12897593	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17616347	0.91[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17617123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17617289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17679493	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1884383	0.91[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1884386	0.80[ASN][1000 genomes]
rs1950508	0.87[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1980611	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1980612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1980613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2038359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2038360	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2144527	0.88[CHB][hapmap]
rs2273315	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2753596	0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs28364834	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34328534	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34870044	0.81[ASN][1000 genomes]
rs34896803	0.85[ASN][1000 genomes]
rs34984050	0.85[ASN][1000 genomes]
rs35006421	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35114880	0.93[ASN][1000 genomes]
rs35270180	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35395604	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35412542	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35502984	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35534904	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35729735	0.85[ASN][1000 genomes]
rs35767652	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36057038	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55902358	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55993688	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57550673	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59881143	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60085216	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66488055	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67190795	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67849341	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67968129	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7140282	0.91[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7140321	0.93[ASN][1000 genomes]
rs71407778	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7145712	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7145856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7152392	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs715267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7157774	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8007028	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8007240	0.87[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8008726	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8011244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8011494	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8020013	0.88[CHB][hapmap]
rs8020321	0.95[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9743466	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9743749	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39573400-39583000	Weak transcription	HSMM	muscle
2	chr14:39573800-39583000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:39573800-39583000	Weak transcription	Thymus	Thymus
4	chr14:39574000-39582800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:39574000-39583000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr14:39574000-39583000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr14:39574000-39583000	Weak transcription	Stomach Mucosa	stomach
8	chr14:39574200-39583000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:39574400-39582800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:39577200-39582800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr14:39577600-39582800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr14:39579600-39583000	Weak transcription	K562	blood
13	chr14:39579800-39583000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr14:39579800-39583000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr14:39580000-39582800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr14:39580000-39582800	Weak transcription	GM12878-XiMat	blood
17	chr14:39580000-39583400	Weak transcription	Gastric	stomach
18	chr14:39581000-39582800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr14:39581800-39584200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr14:39582000-39582800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:39582200-39583000	Weak transcription	Fetal Intestine Small	intestine
22	chr14:39582400-39582800	Active TSS	H9 Cell Line	embryonic stem cell
23	chr14:39582400-39582800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr14:39582400-39582800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:39582400-39582800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:39582400-39582800	Weak transcription	Fetal Thymus	thymus
27	chr14:39582400-39582800	Weak transcription	NH-A	brain
28	chr14:39582400-39583000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr14:39582400-39583000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr14:39582400-39583000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr14:39582400-39583000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr14:39582400-39583000	Enhancers	Hela-S3	cervix
33	chr14:39582400-39583200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr14:39582400-39584200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr14:39582400-39584400	Active TSS	H1 Cell Line	embryonic stem cell
36	chr14:39582400-39584400	Active TSS	A549	lung
37	chr14:39582400-39584600	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr14:39582600-39582800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:39582600-39582800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:39582600-39582800	Enhancers	HepG2	liver
41	chr14:39582600-39583000	Enhancers	Brain Anterior Caudate	brain
42	chr14:39582600-39583200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:39582600-39583200	Flanking Active TSS	Dnd41	blood

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