Variant report

Variant	rs3757262
Chromosome Location	chr6:13616712-13616713
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:13614344-13616751	IMR90	lung:	n/a	n/a
2	SREBP1	chr6:13615167-13617937	GM12878	blood:	n/a	n/a
3	JUN	chr6:13614040-13617251	K562	blood:	n/a	chr6:13614130-13614142
4	POLR2A	chr6:13613363-13618463	K562	blood:	n/a	n/a
5	POLR2A	chr6:13613799-13616792	HepG2	liver:	n/a	n/a
6	POLR2A	chr6:13614500-13617487	GM12878	blood:	n/a	n/a
7	POLR2A	chr6:13614592-13617269	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr6:13614179-13618297	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr6:13613634-13616783	MCF10A-Er-Src	breast:	n/a	n/a
10	MXI1	chr6:13614272-13617414	SK-N-SH	brain:	n/a	chr6:13615415-13615424 chr6:13615415-13615424
11	POLR2A	chr6:13613290-13618341	HepG2	liver:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13613755..13617282-chr6:13813110..13815971,5	MCF-7	breast:
2	chr6:13572923..13577086-chr6:13614342..13617597,6	K562	blood:
3	chr6:13616347..13618794-chr6:13812919..13815608,3	K562	blood:
4	chr6:13615829..13619201-chr6:13633909..13638104,5	K562	blood:
5	chr6:13613655..13618769-chr6:13709987..13714197,10	MCF-7	breast:
6	chr6:13615100..13618262-chr6:13632919..13636030,3	K562	blood:
7	chr6:13572865..13577994-chr6:13612366..13619020,17	K562	blood:
8	chr6:13573004..13578027-chr6:13613856..13617870,10	MCF-7	breast:
9	chr6:13572710..13576955-chr6:13610549..13618685,22	MCF-7	breast:
10	chr6:13486736..13489619-chr6:13614070..13616875,2	MCF-7	breast:
11	chr6:13616347..13618348-chr6:13813347..13815608,2	K562	blood:
12	chr6:13612439..13617063-chr6:13710643..13713872,7	MCF-7	breast:
13	chr6:13486545..13489203-chr6:13612282..13616748,6	MCF-7	breast:
14	chr6:13612229..13617961-chr6:13707977..13713490,13	K562	blood:
15	chr6:13408206..13410464-chr6:13614798..13617307,2	MCF-7	breast:
16	chr6:13614163..13617329-chr6:13617495..13621513,6	MCF-7	breast:
17	chr6:13327180..13330479-chr6:13614329..13617751,5	MCF-7	breast:
18	chr6:13612983..13618304-chr6:13679034..13683117,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261071	TF binding region
ENSG00000124523	Chromatin interaction
ENSG00000145979	Chromatin interaction
ENSG00000050393	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000145990	Chromatin interaction
ENSG00000252966	Chromatin interaction
ENSG00000268059	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs16874275	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13613800-13616800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr6:13614000-13616800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:13614000-13617000	Active TSS	A549	lung
4	chr6:13614400-13617000	Active TSS	H1 Cell Line	embryonic stem cell
5	chr6:13614400-13617000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:13614400-13617000	Active TSS	Fetal Kidney	kidney
7	chr6:13614400-13617000	Active TSS	HSMMtube	muscle
8	chr6:13614600-13616800	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr6:13614600-13616800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:13614600-13616800	Active TSS	HSMM	muscle
11	chr6:13614600-13617000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:13614600-13617000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:13614600-13617000	Active TSS	Left Ventricle	heart
14	chr6:13614800-13616800	Active TSS	K562	blood
15	chr6:13614800-13617000	Active TSS	NHDF-Ad	bronchial
16	chr6:13614800-13617200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:13615000-13616800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:13615000-13616800	Active TSS	NHLF	lung
19	chr6:13615000-13617000	Active TSS	Right Ventricle	heart
20	chr6:13615400-13616800	Active TSS	HMEC	breast
21	chr6:13615800-13616800	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr6:13615800-13617200	Active TSS	Right Atrium	heart
23	chr6:13616000-13616800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr6:13616000-13616800	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr6:13616000-13616800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr6:13616000-13616800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr6:13616000-13616800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr6:13616000-13617000	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr6:13616200-13616800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:13616200-13616800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr6:13616200-13616800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr6:13616200-13616800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:13616200-13616800	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr6:13616200-13616800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr6:13616200-13616800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr6:13616200-13616800	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr6:13616200-13616800	Flanking Active TSS	HUVEC	blood vessel
38	chr6:13616200-13617000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr6:13616200-13617000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:13616200-13617000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr6:13616200-13617200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:13616200-13617800	Enhancers	Small Intestine	intestine
43	chr6:13616400-13616800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr6:13616400-13616800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr6:13616400-13616800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr6:13616400-13616800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr6:13616400-13616800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:13616400-13616800	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr6:13616400-13616800	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr6:13616400-13616800	Flanking Active TSS	Fetal Heart	heart

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