Variant report

Variant	rs9767608
Chromosome Location	chr6:150067968-150067969
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:174)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:174 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:150067409-150068028	H1-neurons	neurons:	n/a	n/a
2	MAX	chr6:150067162-150068078	HCT-116	colon:	n/a	n/a
3	POLR2A	chr6:150067242-150067986	U87	brain:	n/a	n/a
4	POLR2A	chr6:150067403-150068008	K562	blood:	n/a	n/a
5	MAFK	chr6:150067414-150068047	HepG2	liver:	n/a	n/a
6	TAF1	chr6:150067389-150067970	PFSK-1	brain:	n/a	n/a
7	ZNF143	chr6:150067458-150067970	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:150067322-150068072	K562	blood:	n/a	n/a
9	HCFC1	chr6:150067227-150068314	Hela-S3	cervix:	n/a	n/a
10	NR3C1	chr6:150067556-150068000	A549	lung:	n/a	n/a
11	GABPA	chr6:150067440-150068044	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr6:150067398-150067969	GM12891	blood:	n/a	n/a
13	SIN3AK20	chr6:150067202-150068111	HCT-116	colon:	n/a	n/a
14	POLR2A	chr6:150067258-150068228	HepG2	liver:	n/a	n/a
15	POLR2A	chr6:150067298-150068128	K562	blood:	n/a	n/a
16	POLR2A	chr6:150067374-150067982	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr6:150067319-150067982	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr6:150067424-150067995	HepG2	liver:	n/a	n/a
19	RCOR1	chr6:150067376-150068081	HepG2	liver:	n/a	n/a
20	POLR2A	chr6:150067185-150068131	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr6:150067279-150068007	GM18505	blood:	n/a	n/a
22	POLR2A	chr6:150067455-150067968	H1-neurons	neurons:	n/a	n/a
23	KAP1	chr6:150067203-150068117	U2OS	brain:	n/a	n/a
24	SP1	chr6:150067446-150067995	GM12878	blood:	n/a	chr6:150067474-150067488
25	RCOR1	chr6:150067445-150068006	Hela-S3	cervix:	n/a	n/a
26	MYC	chr6:150067158-150068126	K562	blood:	n/a	n/a
27	POLR2A	chr6:150067431-150068093	HEK293	kidney:	n/a	n/a
28	BRCA1	chr6:150067585-150068013	H1-hESC	embryonic stem cell:	n/a	n/a
29	JUND	chr6:150067341-150067968	K562	blood:	n/a	n/a
30	MYBL2	chr6:150067167-150068137	HepG2	liver:	n/a	n/a
31	CHD2	chr6:150067303-150068136	HepG2	liver:	n/a	n/a
32	CTCF	chr6:150067820-150067970	NHEK	skin:	n/a	n/a
33	HEY1	chr6:150067320-150068013	K562	blood:	n/a	n/a
34	POLR2A	chr6:150067387-150068013	K562	blood:	n/a	n/a
35	MXI1	chr6:150066971-150068397	IMR90	lung:	n/a	n/a
36	POLR2A	chr6:150067407-150067984	MCF10A-Er-Src	breast:	n/a	n/a
37	EP300	chr6:150067452-150068020	HepG2	liver:	n/a	chr6:150067939-150067953
38	POLR2A	chr6:150067294-150068029	GM12878	blood:	n/a	n/a
39	RELA	chr6:150067346-150068053	GM15510	blood:	n/a	n/a
40	MBD4	chr6:150067366-150068162	HepG2	liver:	n/a	n/a
41	POLR2A	chr6:150067263-150068019	NB4	blood:	n/a	n/a
42	MAFK	chr6:150067407-150068073	HepG2	liver:	n/a	n/a
43	MAX	chr6:150067399-150067988	SK-N-SH	brain:	n/a	n/a
44	FOXM1	chr6:150067200-150068016	GM12878	blood:	n/a	n/a
45	EP300	chr6:150067492-150068031	GM12878	blood:	n/a	chr6:150067939-150067953
46	SP1	chr6:150067412-150068009	A549	lung:	n/a	chr6:150067474-150067488
47	NFYB	chr6:150067379-150068073	K562	blood:	n/a	chr6:150067709-150067724
48	FOS	chr6:150067532-150068006	K562	blood:	n/a	n/a
49	POLR2A	chr6:150067297-150068034	Raji	blood:	n/a	n/a
50	POLR2A	chr6:150067301-150068138	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:150038744..150042586-chr6:150067819..150072874,7	K562	blood:
2	chr6:150037658..150040820-chr6:150066171..150069234,4	MCF-7	breast:
3	chr6:150067770..150069561-chr6:150184088..150185718,2	MCF-7	breast:
4	chr6:149865412..149868638-chr6:150066732..150070347,4	K562	blood:
5	chr6:150036817..150045008-chr6:150066563..150073628,17	MCF-7	breast:
6	chr6:149864573..149867229-chr6:150066856..150070071,3	K562	blood:
7	chr6:150067696..150070482-chr6:150117638..150119336,2	K562	blood:

No data

Variant related genes	Relation type
NUP43	TF binding region
PCMT1	TF binding region
ENSG00000231760	Chromatin interaction
ENSG00000120256	Chromatin interaction
ENSG00000131013	Chromatin interaction
ENSG00000268592	Chromatin interaction
ENSG00000131023	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs60764176	1.00[AMR][1000 genomes]
rs6899726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6939718	1.00[YRI][hapmap]
rs9688377	1.00[YRI][hapmap]
rs9767306	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886762	chr6:149866452-150174507	Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv1792620	chr6:149909491-150083621	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv3475167	chr6:150003006-150086225	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv3475168	chr6:150003006-150086225	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv1803291	chr6:150018508-150164190	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr6:150066200-150068000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:150066400-150068000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:150066600-150068000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:150066600-150068000	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr6:150066600-150068000	Active TSS	Fetal Brain Female	brain
6	chr6:150066600-150068200	Flanking Active TSS	Liver	Liver
7	chr6:150066600-150068200	Active TSS	NHLF	lung
8	chr6:150066800-150068000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:150066800-150068000	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr6:150066800-150068000	Active TSS	Brain Germinal Matrix	brain
11	chr6:150066800-150068000	Active TSS	Colonic Mucosa	Colon
12	chr6:150066800-150068000	Active TSS	Ovary	ovary
13	chr6:150066800-150068000	Active TSS	Psoas Muscle	Psoas
14	chr6:150066800-150068200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr6:150067000-150068000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr6:150067000-150068000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:150067000-150068000	Active TSS	Left Ventricle	heart
18	chr6:150067000-150068200	Active TSS	Fetal Brain Male	brain
19	chr6:150067000-150068200	Active TSS	NHEK	skin
20	chr6:150067200-150068000	Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr6:150067200-150068000	Active TSS	Colon Smooth Muscle	Colon
22	chr6:150067200-150068000	Active TSS	Esophagus	oesophagus
23	chr6:150067200-150068200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:150067200-150068200	Active TSS	Brain Cingulate Gyrus	brain
25	chr6:150067600-150068000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr6:150067600-150068000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:150067600-150068000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:150067600-150068000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr6:150067600-150068000	Flanking Active TSS	Fetal Muscle Trunk	muscle
30	chr6:150067600-150068000	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr6:150067600-150068000	Flanking Active TSS	Fetal Stomach	stomach
32	chr6:150067600-150068000	Flanking Active TSS	Fetal Thymus	thymus
33	chr6:150067600-150068000	Enhancers	Spleen	Spleen
34	chr6:150067600-150068200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:150067600-150068200	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr6:150067600-150068200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr6:150067600-150068400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr6:150067600-150068400	Flanking Active TSS	Dnd41	blood
39	chr6:150067800-150068000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
40	chr6:150067800-150068000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:150067800-150068000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:150067800-150068000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:150067800-150068000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:150067800-150068000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
45	chr6:150067800-150068000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:150067800-150068000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr6:150067800-150068000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr6:150067800-150068000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr6:150067800-150068000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:150067800-150068000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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