Variant report

Variant	rs1322814
Chromosome Location	chr6:109775787-109775788
allele	C/T
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	YY1	chr6:109775774-109776592	GM12878	blood:	n/a	chr6:109776254-109776263
2	FOXM1	chr6:109775435-109776715	GM12878	blood:	n/a	n/a
3	MTA3	chr6:109775633-109776716	GM12878	blood:	n/a	n/a
4	EBF1	chr6:109775690-109776939	GM12878	blood:	n/a	n/a
5	ATF2	chr6:109775717-109776214	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:109775787-109777267	IMR90	lung:	n/a	n/a
7	POLR2A	chr6:109775370-109776972	GM12892	blood:	n/a	n/a
8	POLR2A	chr6:109774791-109778612	GM12892	blood:	n/a	n/a
9	SIN3A	chr6:109775640-109776879	GM12878	blood:	n/a	n/a
10	STAT5A	chr6:109775773-109776207	GM12878	blood:	n/a	chr6:109776179-109776191
11	BCLAF1	chr6:109775655-109776224	GM12878	blood:	n/a	chr6:109776038-109776047
12	POLR2A	chr6:109775261-109777757	GM19099	blood:	n/a	n/a
13	NFIC	chr6:109775502-109776367	GM12878	blood:	n/a	n/a
14	MTA3	chr6:109774944-109778262	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:109775300-109777378	NB4	blood:	n/a	n/a
16	REST	chr6:109775578-109777923	H1-neurons	neurons:	n/a	chr6:109776434-109776452 chr6:109777410-109777423 chr6:109775591-109775611 chr6:109777413-109777426 chr6:109775592-109775610
17	POLR2A	chr6:109775074-109777912	GM12878	blood:	n/a	n/a
18	RELA	chr6:109775723-109777443	GM10847	blood:	n/a	n/a
19	ELF1	chr6:109775739-109776203	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:109775718-109777473	H1-neurons	neurons:	n/a	n/a
21	WRNIP1	chr6:109775511-109776164	GM12878	blood:	n/a	n/a
22	POLR2A	chr6:109774855-109777633	GM12892	blood:	n/a	n/a
23	RELA	chr6:109775717-109777476	GM12892	blood:	n/a	n/a
24	MAX	chr6:109775363-109777255	NB4	blood:	n/a	chr6:109776320-109776330 chr6:109776227-109776237
25	SPI1	chr6:109775704-109776367	HL-60	blood:	n/a	chr6:109776143-109776150
26	SPI1	chr6:109775515-109776447	GM12878	blood:	n/a	chr6:109775647-109775656 chr6:109776143-109776150
27	SIN3A	chr6:109775713-109777875	H1-hESC	embryonic stem cell:	n/a	chr6:109777045-109777058 chr6:109777410-109777423
28	POLR2A	chr6:109775489-109777389	GM12892	blood:	n/a	n/a
29	POLR2A	chr6:109775374-109777341	GM12878	blood:	n/a	n/a
30	TCF12	chr6:109775695-109776431	GM12878	blood:	n/a	n/a
31	POLR2A	chr6:109775685-109776235	GM12891	blood:	n/a	n/a
32	PAX5	chr6:109775649-109776969	GM12878	blood:	n/a	chr6:109776038-109776047 chr6:109776141-109776150
33	POLR2A	chr6:109775738-109777462	GM12878	blood:	n/a	n/a
34	POLR2A	chr6:109774498-109777592	GM19193	blood:	n/a	n/a
35	RELA	chr6:109775717-109777349	GM19099	blood:	n/a	n/a
36	TBP	chr6:109775781-109776178	GM12878	blood:	n/a	n/a
37	POLR2A	chr6:109775781-109777478	GM10847	blood:	n/a	n/a
38	RCOR1	chr6:109775670-109776812	GM12878	blood:	n/a	n/a
39	STAT5A	chr6:109775299-109776940	GM12878	blood:	n/a	chr6:109776179-109776191 chr6:109776249-109776261
40	POLR2A	chr6:109774247-109777532	GM12878	blood:	n/a	n/a
41	POLR2A	chr6:109775064-109777376	Raji	blood:	n/a	n/a
42	POU2F2	chr6:109775650-109776244	GM12891	blood:	n/a	n/a
43	ZNF384	chr6:109775774-109776037	GM12878	blood:	n/a	n/a
44	POLR2A	chr6:109775594-109776032	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr6:109774772-109776119	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr6:109775422-109776233	GM12891	blood:	n/a	n/a
47	POLR2A	chr6:109775693-109777204	HL-60	blood:	n/a	n/a
48	FOXM1	chr6:109775628-109776290	GM12878	blood:	n/a	n/a
49	CREB1	chr6:109775717-109777411	GM12878	blood:	n/a	n/a
50	RELA	chr6:109775648-109777830	GM15510	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:109774016..109776250-chr6:109801827..109803875,2	K562	blood:
2	chr6:109742234..109744237-chr6:109774891..109776518,2	MCF-7	breast:
3	chr6:109703058..109705958-chr6:109774873..109777253,2	MCF-7	breast:
4	chr6:109414902..109417715-chr6:109774468..109776378,2	K562	blood:
5	chr6:109702694..109704324-chr6:109775011..109776713,2	K562	blood:

Variant related genes	Relation type
MICAL1	TF binding region
ENSG00000260273	Chromatin interaction
ENSG00000183137	Chromatin interaction
ENSG00000135535	Chromatin interaction
ENSG00000080546	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2232448	1.00[CEU][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28571794	1.00[EUR][1000 genomes]
rs28655743	1.00[EUR][1000 genomes]
rs34369365	1.00[EUR][1000 genomes]
rs56166063	1.00[EUR][1000 genomes]
rs56227394	1.00[EUR][1000 genomes]
rs57767615	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60129681	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61303854	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61426096	1.00[EUR][1000 genomes]
rs6904271	1.00[CEU][hapmap]
rs6907946	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6921167	1.00[TSI][hapmap]
rs6936036	1.00[EUR][1000 genomes]
rs73762703	1.00[EUR][1000 genomes]
rs73762704	1.00[EUR][1000 genomes]
rs73762708	1.00[EUR][1000 genomes]
rs73762709	1.00[EUR][1000 genomes]
rs73762713	1.00[EUR][1000 genomes]
rs73762715	1.00[EUR][1000 genomes]
rs73762724	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73762751	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73762754	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73762755	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73766319	1.00[EUR][1000 genomes]
rs7764669	1.00[TSI][hapmap]
rs9480932	1.00[EUR][1000 genomes]
rs9487067	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9487072	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9487075	1.00[EUR][1000 genomes]
rs9487091	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][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	esv3395145	chr6:109775784-109778832	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109762800-109775800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:109763200-109775800	Weak transcription	HUVEC	blood vessel
3	chr6:109763600-109775800	Weak transcription	Right Atrium	heart
4	chr6:109764400-109775800	Weak transcription	Hela-S3	cervix
5	chr6:109766600-109775800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:109767000-109776000	Weak transcription	A549	lung
7	chr6:109767200-109776000	Weak transcription	Osteobl	bone
8	chr6:109768400-109775800	Weak transcription	Liver	Liver
9	chr6:109768400-109775800	Weak transcription	Left Ventricle	heart
10	chr6:109768400-109776000	Weak transcription	Ovary	ovary
11	chr6:109768400-109776400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:109768400-109776400	Weak transcription	K562	blood
13	chr6:109773200-109775800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:109774600-109775800	Enhancers	Stomach Mucosa	stomach
15	chr6:109774800-109775800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:109774800-109775800	Enhancers	Pancreas	Pancrea
17	chr6:109774800-109775800	Enhancers	Small Intestine	intestine
18	chr6:109774800-109776000	Enhancers	Lung	lung
19	chr6:109775000-109775800	Weak transcription	NHEK	skin
20	chr6:109775000-109776000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr6:109775000-109776200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr6:109775000-109776200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr6:109775000-109776800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr6:109775000-109776800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:109775200-109775800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:109775200-109775800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:109775200-109775800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr6:109775200-109775800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:109775200-109775800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:109775200-109775800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:109775200-109775800	Enhancers	Placenta	Placenta
32	chr6:109775200-109775800	Enhancers	HMEC	breast
33	chr6:109775200-109776000	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr6:109775200-109776000	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr6:109775200-109776000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:109775200-109776000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:109775200-109776000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:109775200-109776000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr6:109775200-109776000	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr6:109775200-109776000	Flanking Active TSS	Fetal Brain Female	brain
41	chr6:109775200-109776000	Weak transcription	Gastric	stomach
42	chr6:109775200-109776000	Flanking Active TSS	GM12878-XiMat	blood
43	chr6:109775200-109776000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr6:109775200-109776200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:109775200-109776200	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr6:109775200-109776400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr6:109775200-109776400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:109775200-109776600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr6:109775200-109776600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr6:109775200-109776600	Flanking Active TSS	Fetal Muscle Leg	muscle

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