Variant report

Variant	rs77965538
Chromosome Location	chr6:33386728-33386729
allele	C/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	MXI1	chr6:33386696-33386859	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:33384094-33387006	PFSK-1	brain:	n/a	n/a
3	RUNX3	chr6:33385027-33387193	GM12878	blood:	n/a	n/a
4	JUN	chr6:33384157-33388027	K562	blood:	n/a	chr6:33387272-33387283 chr6:33386177-33386186 chr6:33386981-33386990 chr6:33386847-33386856
5	POLR2A	chr6:33385639-33386891	GM12892	blood:	n/a	n/a
6	JUN	chr6:33386640-33386890	H1-hESC	embryonic stem cell:	n/a	chr6:33386847-33386856
7	POLR2A	chr6:33385522-33386979	K562	blood:	n/a	n/a
8	POLR2A	chr6:33385451-33387100	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr6:33385318-33386843	GM12878	blood:	n/a	n/a
10	HEY1	chr6:33385690-33387124	K562	blood:	n/a	chr6:33386980-33386989 chr6:33386982-33386991
11	ELF1	chr6:33386644-33387140	K562	blood:	n/a	n/a
12	TAF1	chr6:33384999-33386859	H1-neurons	neurons:	n/a	n/a
13	SIN3A	chr6:33385528-33386787	GM12878	blood:	n/a	chr6:33386465-33386478 chr6:33386200-33386209
14	RCOR1	chr6:33385480-33386795	GM12878	blood:	n/a	n/a
15	MAX	chr6:33384966-33386765	HepG2	liver:	n/a	chr6:33386120-33386129 chr6:33385874-33385884 chr6:33385899-33385909 chr6:33386201-33386210 chr6:33386200-33386211
16	NR2F2	chr6:33384437-33387030	K562	blood:	n/a	n/a
17	POLR2A	chr6:33386085-33386818	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:33385435-33387053	K562	blood:	n/a	n/a
19	POLR2A	chr6:33384269-33387286	K562	blood:	n/a	n/a
20	TBP	chr6:33385446-33386787	K562	blood:	n/a	n/a
21	HCFC1	chr6:33384636-33386789	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr6:33385525-33386967	MCF-7	breast:	n/a	n/a
23	REST	chr6:33384793-33386939	H1-neurons	neurons:	n/a	n/a
24	POU2F2	chr6:33386566-33387059	GM12891	blood:	n/a	n/a
25	POLR2A	chr6:33385432-33387112	K562	blood:	n/a	n/a
26	RFX5	chr6:33385166-33386834	SK-N-SH	brain:	n/a	n/a
27	NFYA	chr6:33385689-33386775	Hela-S3	cervix:	n/a	chr6:33386173-33386186 chr6:33386172-33386184 chr6:33386173-33386188 chr6:33386006-33386018 chr6:33386173-33386188 chr6:33386175-33386185 chr6:33386173-33386187
28	RELA	chr6:33385419-33387090	GM18505	blood:	n/a	n/a
29	JUND	chr6:33385498-33387369	K562	blood:	n/a	chr6:33387272-33387283 chr6:33386177-33386186 chr6:33386981-33386990 chr6:33386847-33386856
30	POLR2A	chr6:33385517-33386803	MCF-7	breast:	n/a	n/a
31	MAX	chr6:33385301-33386745	MCF-7	breast:	n/a	chr6:33386120-33386129 chr6:33385874-33385884 chr6:33385899-33385909 chr6:33386201-33386210 chr6:33386200-33386211
32	POLR2A	chr6:33385441-33386984	K562	blood:	n/a	n/a
33	POLR2A	chr6:33386572-33386854	HepG2	liver:	n/a	n/a
34	POLR2A	chr6:33384494-33386932	K562	blood:	n/a	n/a
35	POLR2A	chr6:33385372-33387049	GM12878	blood:	n/a	n/a
36	NFYB	chr6:33385716-33386961	K562	blood:	n/a	chr6:33386173-33386186 chr6:33386172-33386184 chr6:33386173-33386188 chr6:33386006-33386018 chr6:33386843-33386857 chr6:33386173-33386188 chr6:33386843-33386858 chr6:33386175-33386185 chr6:33386173-33386187 chr6:33386843-33386858
37	MAZ	chr6:33385542-33387149	K562	blood:	n/a	chr6:33386120-33386129 chr6:33386201-33386210 chr6:33386200-33386211
38	POLR2A	chr6:33386066-33386991	GM12892	blood:	n/a	n/a
39	WRNIP1	chr6:33384218-33386895	GM12878	blood:	n/a	n/a
40	JUN	chr6:33385663-33387191	K562	blood:	n/a	chr6:33386177-33386186 chr6:33386981-33386990 chr6:33386847-33386856
41	RELA	chr6:33385609-33387099	GM19099	blood:	n/a	n/a
42	SMARCB1	chr6:33384818-33386849	Hela-S3	cervix:	n/a	n/a
43	ATF2	chr6:33386706-33387155	GM12878	blood:	n/a	chr6:33386980-33386991
44	MYBL2	chr6:33385054-33386776	HepG2	liver:	n/a	n/a
45	JUND	chr6:33385818-33387195	H1-hESC	embryonic stem cell:	n/a	chr6:33386177-33386186 chr6:33386981-33386990 chr6:33386847-33386856
46	POLR2A	chr6:33380085-33387208	IMR90	lung:	n/a	n/a
47	POLR2A	chr6:33385423-33386832	HepG2	liver:	n/a	n/a
48	CTCF	chr6:33386640-33386790	GM12867	blood:	n/a	n/a
49	BRCA1	chr6:33386663-33386843	GM12878	blood:	n/a	n/a
50	ZNF143	chr6:33385585-33386765	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:33242365..33247657-chr6:33386109..33388284,6	K562	blood:
2	chr6:33279489..33293095-chr6:33375317..33398824,56	K562	blood:
3	chr6:32938527..32941573-chr6:33384163..33387216,4	K562	blood:
4	chr6:33385453..33389637-chr6:33419628..33424957,5	MCF-7	breast:
5	chr6:33264410..33268847-chr6:33383674..33387403,5	MCF-7	breast:
6	chr6:33168527..33171468-chr6:33384494..33387586,3	K562	blood:
7	chr6:33169269..33171468-chr6:33384494..33387192,2	K562	blood:
8	chr6:33254516..33257651-chr6:33384634..33387572,3	K562	blood:
9	chr6:33365854..33369434-chr6:33385468..33388336,3	K562	blood:
10	chr6:33264378..33268881-chr6:33383627..33388443,14	K562	blood:
11	chr6:33357638..33360083-chr6:33386720..33388943,3	MCF-7	breast:
12	chr6:33280795..33292485-chr6:33374786..33387605,31	K562	blood:
13	chr6:33356382..33361019-chr6:33384058..33388661,8	K562	blood:
14	chr6:33384548..33387250-chr6:33422114..33424496,2	K562	blood:
15	chr6:33285422..33287849-chr6:33385883..33388858,2	MCF-7	breast:
16	chr6:33264858..33266557-chr6:33385922..33387524,2	K562	blood:
17	chr6:33237639..33241732-chr6:33383253..33390116,11	K562	blood:
18	chr6:33357335..33362175-chr6:33383352..33389421,14	K562	blood:
19	chr6:33242542..33249529-chr6:33381747..33388277,18	K562	blood:
20	chr6:33279097..33283546-chr6:33386045..33390564,5	MCF-7	breast:
21	chr6:33358575..33362850-chr6:33383674..33386989,4	MCF-7	breast:
22	chr6:33371627..33375942-chr6:33381284..33387543,6	K562	blood:
23	chr6:33237802..33241730-chr6:33382199..33389112,10	K562	blood:

Variant related genes	Relation type
CUTA	TF binding region
SYNGAP1	TF binding region
ENSG00000213588	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000204231	Chromatin interaction
ENSG00000227057	Chromatin interaction
ENSG00000237441	Chromatin interaction
ENSG00000112473	Chromatin interaction
ENSG00000263756	Chromatin interaction
ENSG00000204220	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000204194	Chromatin interaction
ENSG00000225644	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000204209	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000236104	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv885769	chr6:33377522-33412197	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	48 gene(s)	inside rSNPs	diseases
4	nsv602832	chr6:33382241-33520221	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv932196	chr6:33383131-33400706	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers 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	36 gene(s)	inside rSNPs	diseases
6	esv3491403	chr6:33386574-33390272	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
7	esv3491404	chr6:33386574-33390272	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	19 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	chr6:33384600-33386800	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr6:33384800-33386800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr6:33385000-33387000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:33386000-33387800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:33386000-33392600	Weak transcription	Gastric	stomach
6	chr6:33386200-33386800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
7	chr6:33386200-33386800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:33386200-33386800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:33386200-33386800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:33386200-33386800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr6:33386200-33386800	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr6:33386200-33386800	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr6:33386200-33386800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr6:33386200-33386800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:33386200-33386800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr6:33386200-33386800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:33386200-33386800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr6:33386200-33386800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:33386200-33386800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr6:33386200-33386800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:33386200-33386800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr6:33386200-33386800	Flanking Active TSS	Colonic Mucosa	Colon
23	chr6:33386200-33386800	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr6:33386200-33386800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr6:33386200-33386800	Flanking Active TSS	Fetal Brain Male	brain
26	chr6:33386200-33386800	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr6:33386200-33386800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr6:33386200-33386800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr6:33386200-33386800	Flanking Active TSS	GM12878-XiMat	blood
30	chr6:33386200-33386800	Flanking Active TSS	Hela-S3	cervix
31	chr6:33386200-33386800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr6:33386200-33386800	Flanking Active TSS	NHEK	skin
33	chr6:33386200-33386800	Flanking Active TSS	NHLF	lung
34	chr6:33386200-33386800	Flanking Active TSS	Osteobl	bone
35	chr6:33386200-33387000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr6:33386200-33387000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr6:33386200-33387000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:33386200-33387000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:33386200-33387000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr6:33386200-33387000	Flanking Active TSS	Thymus	Thymus
41	chr6:33386200-33387000	Flanking Bivalent TSS/Enh	HepG2	liver
42	chr6:33386200-33387200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr6:33386200-33387800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:33386200-33387800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:33386200-33387800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr6:33386200-33387800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:33386200-33387800	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr6:33386200-33387800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:33386200-33387800	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr6:33386200-33387800	Flanking Active TSS	K562	blood

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