Variant report

Variant	rs9399586
Chromosome Location	chr6:147179022-147179023
allele	A/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	RAD21	chr6:147178552-147179093	Hela-S3	cervix:	n/a	chr6:147179005-147179018 chr6:147178756-147178775 chr6:147178761-147178773 chr6:147178723-147178735 chr6:147178759-147178772 chr6:147178761-147178771
2	RAD21	chr6:147178506-147179432	SK-N-SH_RA	brain:	n/a	chr6:147179005-147179018 chr6:147178756-147178775 chr6:147178761-147178773 chr6:147178723-147178735 chr6:147178759-147178772 chr6:147178761-147178771
3	SMC3	chr6:147178292-147179709	SK-N-SH	brain:	n/a	chr6:147178757-147178771 chr6:147178761-147178771
4	RAD21	chr6:147178535-147179089	SK-N-SH_RA	brain:	n/a	chr6:147179005-147179018 chr6:147178756-147178775 chr6:147178761-147178773 chr6:147178723-147178735 chr6:147178759-147178772 chr6:147178761-147178771
5	TCF7L2	chr6:147178721-147179200	PANC-1	pancreas:	n/a	n/a
6	MAFF	chr6:147178259-147179438	K562	blood:	n/a	chr6:147178841-147178859
7	ZMIZ1	chr6:147178345-147179300	K562	blood:	n/a	n/a
8	MBD4	chr6:147178520-147179072	HepG2	liver:	n/a	n/a
9	CREB1	chr6:147178519-147179413	K562	blood:	n/a	n/a
10	MYC	chr6:147178296-147179447	K562	blood:	n/a	n/a
11	JUN	chr6:147175193-147179604	K562	blood:	n/a	chr6:147178979-147178991 chr6:147176865-147176875 chr6:147176865-147176875 chr6:147178350-147178364 chr6:147177670-147177681
12	CTCF	chr6:147178542-147179031	HCT-116	colon:	n/a	chr6:147178755-147178773 chr6:147178757-147178778 chr6:147178760-147178770 chr6:147178758-147178771 chr6:147178758-147178767 chr6:147178758-147178771 chr6:147178756-147178772
13	POLR2A	chr6:147178192-147179291	K562	blood:	n/a	n/a
14	POLR2A	chr6:147178251-147179562	K562	blood:	n/a	n/a
15	MAZ	chr6:147178480-147179464	K562	blood:	n/a	n/a
16	CCNT2	chr6:147178446-147179275	K562	blood:	n/a	n/a
17	TEAD4	chr6:147178237-147179447	K562	blood:	n/a	chr6:147178425-147178434
18	NR2F2	chr6:147178201-147179401	K562	blood:	n/a	n/a
19	SIN3A	chr6:147178665-147179269	H1-hESC	embryonic stem cell:	n/a	n/a
20	NRF1	chr6:147178462-147179168	SK-N-SH	brain:	n/a	chr6:147178824-147178835
21	CTCF	chr6:147178546-147179025	K562	blood:	n/a	chr6:147178755-147178773 chr6:147178757-147178778 chr6:147178760-147178770 chr6:147178758-147178771 chr6:147178758-147178767 chr6:147178758-147178771 chr6:147178756-147178772
22	CEBPB	chr6:147178577-147179157	MCF-7	breast:	n/a	chr6:147178809-147178818 chr6:147178809-147178818 chr6:147178809-147178818
23	ATF1	chr6:147178518-147179025	K562	blood:	n/a	n/a
24	EP300	chr6:147178566-147179079	K562	blood:	n/a	chr6:147179003-147179019 chr6:147178636-147178650 chr6:147178764-147178773
25	POLR2A	chr6:147178699-147179086	H1-neurons	neurons:	n/a	n/a
26	JUN	chr6:147178573-147179064	K562	blood:	n/a	chr6:147178979-147178991
27	MYC	chr6:147178354-147179531	K562	blood:	n/a	n/a
28	RAD21	chr6:147178504-147179101	A549	lung:	n/a	chr6:147179005-147179018 chr6:147178756-147178775 chr6:147178761-147178773 chr6:147178723-147178735 chr6:147178759-147178772 chr6:147178761-147178771
29	MAX	chr6:147178488-147179385	K562	blood:	n/a	n/a
30	MAFK	chr6:147178607-147179152	IMR90	lung:	n/a	chr6:147178843-147178858
31	HEY1	chr6:147178516-147179344	K562	blood:	n/a	n/a
32	POLR2A	chr6:147178243-147179618	K562	blood:	n/a	n/a
33	IRF1	chr6:147178479-147179673	K562	blood:	n/a	chr6:147179483-147179500 chr6:147179479-147179499 chr6:147179483-147179497 chr6:147179475-147179486 chr6:147179487-147179497 chr6:147179481-147179495 chr6:147179473-147179487
34	RCOR1	chr6:147178287-147179440	K562	blood:	n/a	n/a
35	JUND	chr6:147178416-147179425	K562	blood:	n/a	chr6:147178979-147178991
36	RAD21	chr6:147178468-147179149	HCT-116	colon:	n/a	chr6:147179005-147179018 chr6:147178756-147178775 chr6:147178761-147178773 chr6:147178723-147178735 chr6:147178759-147178772 chr6:147178761-147178771
37	CEBPB	chr6:147178616-147179030	A549	lung:	n/a	chr6:147178809-147178818 chr6:147178809-147178818 chr6:147178809-147178818
38	POLR2A	chr6:147178338-147179431	K562	blood:	n/a	n/a
39	CEBPB	chr6:147178583-147179115	IMR90	lung:	n/a	chr6:147178809-147178818 chr6:147178809-147178818 chr6:147178809-147178818
40	CTCF	chr6:147178474-147179072	MCF-7	breast:	n/a	chr6:147178755-147178773 chr6:147178757-147178778 chr6:147178760-147178770 chr6:147178758-147178771 chr6:147178501-147178509 chr6:147178758-147178767 chr6:147178758-147178771 chr6:147178756-147178772
41	MAX	chr6:147178598-147179085	NB4	blood:	n/a	n/a
42	HCFC1	chr6:147178505-147179485	K562	blood:	n/a	n/a
43	RAD21	chr6:147178576-147179078	GM12878	blood:	n/a	chr6:147179005-147179018 chr6:147178756-147178775 chr6:147178761-147178773 chr6:147178723-147178735 chr6:147178759-147178772 chr6:147178761-147178771
44	RAD21	chr6:147178373-147179079	HCT-116	colon:	n/a	chr6:147179005-147179018 chr6:147178756-147178775 chr6:147178761-147178773 chr6:147178723-147178735 chr6:147178759-147178772 chr6:147178761-147178771
45	STAT3	chr6:147178750-147179043	MCF10A-Er-Src	breast:	n/a	n/a
46	MAX	chr6:147178638-147179073	SK-N-SH	brain:	n/a	n/a
47	CREB1	chr6:147178306-147179421	K562	blood:	n/a	n/a
48	JUND	chr6:147178600-147179028	H1-hESC	embryonic stem cell:	n/a	chr6:147178979-147178991
49	CEBPB	chr6:147178336-147179512	K562	blood:	n/a	chr6:147178809-147178818 chr6:147178809-147178818 chr6:147178809-147178818
50	CTCF	chr6:147178534-147179036	IMR90	lung:	n/a	chr6:147178755-147178773 chr6:147178757-147178778 chr6:147178760-147178770 chr6:147178758-147178771 chr6:147178758-147178767 chr6:147178758-147178771 chr6:147178756-147178772

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:147179017-147179067	ovcar-3	ovarian:	n/a
2	chr6:147179017-147179067	HUVEC	blood vessel:	n/a
3	chr6:147179017-147179067	HRPEpiC	eye:	n/a
4	chr6:147179017-147179067	U87	brain:	n/a
5	chr6:147179017-147179067	Hela-S3	cervix:	n/a
6	chr6:147179017-147179067	HRE	kidney:	n/a
7	chr6:147179017-147179067	HCPEpiC	choroid plexus:	n/a
8	chr6:147179017-147179067	HCT-116	colon:	n/a
9	chr6:147179017-147179067	Hepatocyte	liver:	n/a
10	chr6:147179017-147179067	AG10803	skin:	n/a
11	chr6:147179017-147179067	AoSMC	blood vessel:	n/a
12	chr6:147179017-147179067	NT2-D1	testis:	n/a
13	chr6:147179017-147179067	HRCEpiC	kidney:	n/a
14	chr6:147179017-147179067	A549	lung:	n/a
15	chr6:147179017-147179067	T-47D	breast:	n/a
16	chr6:147179017-147179067	RPTEC	kidney:	n/a
17	chr6:147179017-147179067	IMR90	lung:	fetal
18	chr6:147179017-147179067	PrEC	prostate:	n/a
19	chr6:147179017-147179067	PANC-1	pancreas:	n/a
20	chr6:147179017-147179067	HEEpiC	esophagus:	n/a
21	chr6:147179017-147179067	AG09309	skin:	n/a
22	chr6:147179017-147179067	SK-N-MC	brain:	n/a
23	chr6:147179017-147179067	SAEC	small airway:	n/a
24	chr6:147179017-147179067	HCF	heart:	n/a
25	chr6:147179017-147179067	Jurkat	blood:	n/a
26	chr6:147179017-147179067	HepG2	liver:	n/a
27	chr6:147179017-147179067	MCF-7	breast:	n/a
28	chr6:147179017-147179067	NHDF-neo	bronchial:	n/a
29	chr6:147179017-147179067	HNPCEpiC	eye:	n/a
30	chr6:147179017-147179067	Caco-2	colon:	n/a
31	chr6:147179017-147179067	SKMC	muscle:	n/a
32	chr6:147179017-147179067	HCM	heart:	n/a
33	chr6:147179017-147179067	LNCaP	prostate:	n/a
34	chr6:147179017-147179067	ProgFib	skin:	n/a
35	chr6:147179017-147179067	GM19239	blood:	n/a
36	chr6:147179017-147179067	GM12878	blood:	n/a
37	chr6:147179017-147179067	GM06990	blood:	n/a
38	chr6:147179017-147179067	ECC-1	luminal epithelium:	n/a
39	chr6:147179017-147179067	HIPEpiC	eye:	n/a
40	chr6:147179017-147179067	NB4	blood:	n/a
41	chr6:147179017-147179067	K562	blood:	n/a
42	chr6:147179017-147179067	NHBE	bronchial:	n/a
43	chr6:147179017-147179067	HAEpiC	amniotic membrane:	n/a
44	chr6:147179017-147179067	SK-N-SH	brain:	n/a
45	chr6:147179017-147179067	BE2_C	brain:	n/a
46	chr6:147179017-147179067	GM12891	blood:	n/a
47	chr6:147179017-147179067	GM12892	blood:	n/a
48	chr6:147179017-147179067	H1-hESC	embryonic stem cell:	embryo
49	chr6:147179017-147179067	NH-A	brain:	n/a
50	chr6:147179017-147179067	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:147178357..147179200-chr6:147526683..147527596,2	K562	blood:
2	chr6:147178357..147179230-chr6:147543410..147544182,3	K562	blood:
3	chr6:147178646..147179531-chr6:147606189..147606807,2	MCF-7	breast:
4	chr6:147178386..147179221-chr6:147703832..147704746,2	K562	blood:
5	chr6:147178857..147181755-chr6:147524235..147526085,2	MCF-7	breast:
6	chr6:147178467..147179520-chr6:147223209..147224373,3	MCF-7	breast:
7	chr6:147178650..147179155-chr6:147605934..147606927,2	K562	blood:
8	chr6:147178602..147180311-chr6:147503523..147505454,2	K562	blood:
9	chr6:147177851..147181465-chr6:147522179..147525344,4	K562	blood:

Variant related genes	Relation type
ENSG00000227748	TF binding region
ENSG00000227748	CpG island
ENSG00000164506	Chromatin interaction
ENSG00000233452	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1052449	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs12665141	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1324679	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1324681	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1575612	0.80[ASN][1000 genomes]
rs2025505	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2025506	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2068333	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2328760	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs2328771	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2328772	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3861404	0.94[JPT][hapmap]
rs4535573	0.94[JPT][hapmap]
rs4896891	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4896893	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6915214	0.85[CEU][hapmap]
rs6927327	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6927572	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9322078	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9373511	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9373512	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9377030	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9377031	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9386170	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9386171	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9386172	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9386173	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9390422	0.94[JPT][hapmap]
rs9390431	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9399585	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9403819	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9403820	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9403821	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9403822	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9403825	0.83[CEU][hapmap]
rs9485129	0.85[EUR][1000 genomes];0.88[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	nsv830838	chr6:147090745-147274669	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147178400-147179200	Enhancers	Placenta Amnion	Placenta Amnion
2	chr6:147178400-147179200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr6:147178400-147179400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:147178400-147179400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:147178400-147179600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr6:147178600-147179200	Active TSS	Fetal Brain Female	brain
7	chr6:147178600-147179200	Active TSS	Stomach Smooth Muscle	stomach
8	chr6:147178600-147179600	Active TSS	Brain Hippocampus Middle	brain
9	chr6:147178800-147179200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr6:147178800-147179200	Active TSS	H1 Cell Line	embryonic stem cell
11	chr6:147178800-147179200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:147178800-147179200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:147178800-147179200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr6:147178800-147179200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:147178800-147179200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:147178800-147179200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:147178800-147179200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:147178800-147179200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:147178800-147179200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:147178800-147179200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:147178800-147179200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr6:147178800-147179200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr6:147178800-147179200	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr6:147178800-147179200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:147178800-147179200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr6:147178800-147179200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:147178800-147179200	Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr6:147178800-147179200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:147178800-147179200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr6:147178800-147179200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr6:147178800-147179200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:147178800-147179200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:147178800-147179200	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr6:147178800-147179200	Active TSS	Aorta	Aorta
35	chr6:147178800-147179200	Enhancers	Liver	Liver
36	chr6:147178800-147179200	Active TSS	Brain Anterior Caudate	brain
37	chr6:147178800-147179200	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr6:147178800-147179200	Active TSS	Colonic Mucosa	Colon
39	chr6:147178800-147179200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr6:147178800-147179200	Active TSS	Fetal Brain Male	brain
41	chr6:147178800-147179200	Flanking Active TSS	Fetal Muscle Trunk	muscle
42	chr6:147178800-147179200	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr6:147178800-147179200	Flanking Active TSS	Placenta	Placenta
44	chr6:147178800-147179200	Active TSS	Rectal Smooth Muscle	rectum
45	chr6:147178800-147179200	Active TSS	Right Ventricle	heart
46	chr6:147178800-147179200	Flanking Active TSS	Stomach Mucosa	stomach
47	chr6:147178800-147179200	Flanking Active TSS	GM12878-XiMat	blood
48	chr6:147178800-147179200	Flanking Active TSS	HepG2	liver
49	chr6:147178800-147179200	Flanking Active TSS	HUVEC	blood vessel
50	chr6:147178800-147179200	Active TSS	NH-A	brain

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