Variant report

Variant	rs13207650
Chromosome Location	chr6:127663703-127663704
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:84)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:84 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr6:127662422-127665983	IMR90	lung:	n/a	n/a
2	CREB1	chr6:127663404-127665009	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:127663681-127665874	K562	blood:	n/a	n/a
4	POLR2A	chr6:127662633-127665925	HepG2	liver:	n/a	n/a
5	TBP	chr6:127663633-127665883	K562	blood:	n/a	n/a
6	FOXA1	chr6:127663253-127663934	HepG2	liver:	n/a	chr6:127663837-127663849
7	POLR2A	chr6:127663313-127663964	HepG2	liver:	n/a	n/a
8	MYBL2	chr6:127663618-127665770	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:127662974-127665790	GM19099	blood:	n/a	n/a
10	POLR2A	chr6:127663695-127665466	GM18951	blood:	n/a	n/a
11	ARID3A	chr6:127663395-127665038	HepG2	liver:	n/a	n/a
12	MAX	chr6:127663613-127665022	K562	blood:	n/a	n/a
13	POLR2A	chr6:127662989-127665867	K562	blood:	n/a	n/a
14	MAX	chr6:127663287-127665323	HepG2	liver:	n/a	n/a
15	POLR2A	chr6:127663666-127663864	HepG2	liver:	n/a	n/a
16	POLR2A	chr6:127663488-127665481	HepG2	liver:	n/a	n/a
17	TEAD4	chr6:127663321-127663834	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr6:127663434-127665773	MCF10A-Er-Src	breast:	n/a	n/a
19	FOXA1	chr6:127663361-127663933	HepG2	liver:	n/a	chr6:127663837-127663849
20	BHLHE40	chr6:127663438-127665336	K562	blood:	n/a	n/a
21	E2F6	chr6:127663618-127665181	H1-hESC	embryonic stem cell:	n/a	chr6:127664554-127664563
22	TBP	chr6:127663226-127665368	HepG2	liver:	n/a	n/a
23	WRNIP1	chr6:127663441-127663896	GM12878	blood:	n/a	n/a
24	MBD4	chr6:127663302-127665477	HepG2	liver:	n/a	n/a
25	MAX	chr6:127663427-127665428	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr6:127663359-127665000	HepG2	liver:	n/a	n/a
27	MYC	chr6:127663578-127665804	K562	blood:	n/a	n/a
28	POLR2A	chr6:127663631-127665430	PBDE	blood:	n/a	n/a
29	FOXA1	chr6:127663274-127663941	HepG2	liver:	n/a	chr6:127663837-127663849
30	CHD2	chr6:127663598-127665238	HepG2	liver:	n/a	chr6:127664554-127664564
31	MYBL2	chr6:127663341-127665118	HepG2	liver:	n/a	n/a
32	POLR2A	chr6:127663605-127665873	PANC-1	pancreas:	n/a	n/a
33	TAF1	chr6:127663377-127663919	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr6:127663327-127665906	K562	blood:	n/a	n/a
35	TEAD4	chr6:127663133-127665076	HepG2	liver:	n/a	n/a
36	POLR2A	chr6:127663359-127665011	HepG2	liver:	n/a	n/a
37	IRF1	chr6:127663682-127665637	K562	blood:	n/a	chr6:127664796-127664813 chr6:127664799-127664812 chr6:127664799-127664811 chr6:127664799-127664811 chr6:127664799-127664810
38	MAX	chr6:127663677-127665552	NB4	blood:	n/a	n/a
39	POLR2A	chr6:127662637-127663986	K562	blood:	n/a	n/a
40	MXI1	chr6:127662786-127666013	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr6:127663062-127666654	SK-N-MC	brain:	n/a	n/a
42	SIN3A	chr6:127663233-127665701	H1-hESC	embryonic stem cell:	n/a	chr6:127663869-127663877
43	MAX	chr6:127663401-127665079	H1-hESC	embryonic stem cell:	n/a	n/a
44	MYC	chr6:127663407-127665114	MCF10A-Er-Src	breast:	n/a	n/a
45	MAZ	chr6:127663656-127664942	K562	blood:	n/a	n/a
46	MAX	chr6:127663207-127665443	HepG2	liver:	n/a	n/a
47	MTA3	chr6:127662552-127663782	GM12878	blood:	n/a	n/a
48	MAX	chr6:127663685-127665022	SK-N-SH	brain:	n/a	n/a
49	ELF1	chr6:127663322-127663919	HepG2	liver:	n/a	n/a
50	POLR2A	chr6:127663367-127663731	SK-N-SH	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:127638086..127642248-chr6:127662682..127665372,3	K562	blood:
2	chr6:127586572..127589762-chr6:127662304..127666058,6	K562	blood:
3	chr6:127663267..127665190-chr6:127682385..127684934,2	MCF-7	breast:
4	chr6:127638086..127640827-chr6:127662682..127665250,2	K562	blood:
5	chr6:127586417..127590637-chr6:127662350..127666578,4	K562	blood:
6	chr6:127647745..127649356-chr6:127662389..127665188,2	K562	blood:

No data

Variant related genes	Relation type
ECHDC1	TF binding region
ENSG00000093144	Chromatin interaction
ENSG00000118518	Chromatin interaction
ENSG00000220744	Chromatin interaction
ENSG00000251768	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10457501	1.00[ASN][1000 genomes]
rs11154410	1.00[ASN][1000 genomes]
rs11154413	1.00[ASN][1000 genomes]
rs11759744	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11962618	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965031	1.00[ASN][1000 genomes]
rs12194762	1.00[ASN][1000 genomes]
rs13193647	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13194028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17272843	1.00[ASN][1000 genomes]
rs34239340	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34362686	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35237558	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36000432	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41285272	1.00[ASN][1000 genomes]
rs4321843	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6909829	1.00[ASN][1000 genomes]
rs6910292	1.00[ASN][1000 genomes]
rs6914921	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932990	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6937964	1.00[ASN][1000 genomes]
rs6939662	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7738747	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761452	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7772035	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9321092	1.00[ASN][1000 genomes]
rs9388581	1.00[ASN][1000 genomes]
rs9401964	1.00[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	nsv604641	chr6:127657099-127719062	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr6:127661200-127664000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:127661600-127666000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:127661800-127664000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:127662000-127664000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:127662000-127665600	Active TSS	Right Atrium	heart
6	chr6:127662200-127663800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr6:127662400-127663800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr6:127662400-127663800	Flanking Active TSS	Fetal Brain Female	brain
9	chr6:127662400-127664000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr6:127662600-127663800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:127662600-127663800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr6:127662600-127663800	Flanking Active TSS	NH-A	brain
13	chr6:127662600-127663800	Flanking Active TSS	NHEK	skin
14	chr6:127662600-127664000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:127662600-127664000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:127662600-127664000	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr6:127662600-127664000	Flanking Active TSS	Osteobl	bone
18	chr6:127662600-127664200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr6:127662600-127664200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr6:127662600-127664200	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr6:127662600-127664600	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr6:127662600-127665800	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr6:127662800-127663800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr6:127662800-127663800	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr6:127662800-127663800	Transcr. at gene 5' and 3'	K562	blood
26	chr6:127662800-127664000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr6:127662800-127664000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:127662800-127664000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr6:127662800-127664200	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr6:127662800-127664200	Flanking Active TSS	Fetal Lung	lung
31	chr6:127662800-127665600	Active TSS	H9 Cell Line	embryonic stem cell
32	chr6:127662800-127665600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:127662800-127665600	Active TSS	Lung	lung
34	chr6:127662800-127665800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:127662800-127665800	Active TSS	Aorta	Aorta
36	chr6:127662800-127665800	Active TSS	Ovary	ovary
37	chr6:127663000-127663800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:127663000-127663800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr6:127663000-127663800	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr6:127663000-127663800	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr6:127663000-127663800	Flanking Active TSS	Fetal Kidney	kidney
42	chr6:127663000-127663800	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr6:127663000-127663800	Flanking Active TSS	Thymus	Thymus
44	chr6:127663000-127663800	Flanking Active TSS	Hela-S3	cervix
45	chr6:127663000-127664000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr6:127663000-127664000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:127663000-127664000	Flanking Active TSS	Fetal Brain Male	brain
48	chr6:127663000-127664200	Flanking Active TSS	HUVEC	blood vessel
49	chr6:127663000-127665600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:127663200-127663800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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