Variant report

Variant	rs548961727
Chromosome Location	chr6:35656722-35656723
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	chr6:35656423-35657052	K562	blood:	n/a	chr6:35656423-35656434 chr6:35656671-35656685 chr6:35656872-35656881
2	USF1	chr6:35656677-35657224	K562	blood:	n/a	chr6:35656911-35656922
3	JUND	chr6:35656569-35657265	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr6:35655515-35657103	GM12892	blood:	n/a	n/a
5	TAF1	chr6:35656445-35656876	H1-hESC	embryonic stem cell:	n/a	n/a
6	TAF1	chr6:35656111-35656980	K562	blood:	n/a	n/a
7	SP1	chr6:35656484-35657133	GM12878	blood:	n/a	chr6:35656870-35656882 chr6:35656871-35656880 chr6:35656872-35656881 chr6:35656871-35656881 chr6:35656871-35656885 chr6:35656870-35656882 chr6:35656871-35656880 chr6:35656871-35656881 chr6:35656793-35656804
8	PAX5	chr6:35656558-35656758	GM12878	blood:	n/a	chr6:35656662-35656671
9	MAX	chr6:35656261-35657250	H1-hESC	embryonic stem cell:	n/a	chr6:35656911-35656922 chr6:35656463-35656472 chr6:35656912-35656922
10	E2F4	chr6:35656538-35657228	MCF10A-Er-Src	breast:	n/a	chr6:35656872-35656881 chr6:35656806-35656813
11	HMGN3	chr6:35655731-35656998	K562	blood:	n/a	n/a
12	ELF1	chr6:35656081-35657090	GM12878	blood:	n/a	chr6:35656133-35656145 chr6:35656296-35656308
13	TBP	chr6:35656454-35657231	HepG2	liver:	n/a	n/a
14	FOXP2	chr6:35656515-35656960	PFSK-1	brain:	n/a	n/a
15	MYC	chr6:35655480-35657167	NB4	blood:	n/a	chr6:35656911-35656922 chr6:35656463-35656472 chr6:35656912-35656922
16	MAX	chr6:35656207-35657181	SK-N-SH	brain:	n/a	chr6:35656911-35656922 chr6:35656463-35656472 chr6:35656912-35656922
17	USF1	chr6:35656699-35657251	H1-hESC	embryonic stem cell:	n/a	chr6:35656911-35656922
18	BCLAF1	chr6:35656520-35657014	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:35656335-35656884	PANC-1	pancreas:	n/a	n/a
20	RUNX3	chr6:35656381-35657146	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:35655672-35657359	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr6:35656371-35656849	H1-neurons	neurons:	n/a	n/a
23	MAZ	chr6:35655319-35657308	IMR90	lung:	n/a	chr6:35656911-35656922 chr6:35656463-35656472
24	SRF	chr6:35656601-35656896	HepG2	liver:	n/a	n/a
25	MAFK	chr6:35656648-35656798	Hela-S3	cervix:	n/a	n/a
26	USF1	chr6:35656677-35657175	ECC-1	luminal epithelium:	n/a	chr6:35656911-35656922
27	MXI1	chr6:35655255-35657347	IMR90	lung:	n/a	chr6:35656913-35656922
28	TCF7L2	chr6:35656507-35656843	PANC-1	pancreas:	n/a	n/a
29	SP1	chr6:35656528-35657112	A549	lung:	n/a	chr6:35656870-35656882 chr6:35656871-35656880 chr6:35656872-35656881 chr6:35656871-35656881 chr6:35656871-35656885 chr6:35656870-35656882 chr6:35656871-35656880 chr6:35656871-35656881 chr6:35656793-35656804
30	POLR2A	chr6:35656371-35656787	GM12891	blood:	n/a	n/a
31	MAZ	chr6:35655760-35657182	HepG2	liver:	n/a	chr6:35656911-35656922 chr6:35656463-35656472
32	POLR2A	chr6:35655733-35657016	MCF-7	breast:	n/a	n/a
33	SIN3A	chr6:35655524-35657253	H1-hESC	embryonic stem cell:	n/a	chr6:35656695-35656704 chr6:35656648-35656659
34	ETS1	chr6:35655615-35657164	K562	blood:	n/a	chr6:35656322-35656333 chr6:35656676-35656687 chr6:35656280-35656291 chr6:35656283-35656294
35	CHD2	chr6:35656709-35657095	HepG2	liver:	n/a	chr6:35656806-35656813
36	MYC	chr6:35656457-35657098	MCF10A-Er-Src	breast:	n/a	chr6:35656911-35656922 chr6:35656463-35656472 chr6:35656912-35656922
37	POLR2A	chr6:35656297-35656862	HEK293	kidney:	n/a	n/a
38	YY1	chr6:35655768-35657128	HepG2	liver:	n/a	chr6:35657100-35657111 chr6:35656289-35656303 chr6:35656282-35656291 chr6:35656423-35656434 chr6:35656671-35656685 chr6:35656872-35656881
39	NFYB	chr6:35656448-35657211	GM12878	blood:	n/a	n/a
40	CREB1	chr6:35656566-35657273	H1-hESC	embryonic stem cell:	n/a	n/a
41	MYC	chr6:35655412-35657338	K562	blood:	n/a	chr6:35656911-35656922 chr6:35656463-35656472 chr6:35656912-35656922
42	POLR2A	chr6:35656239-35657061	Hela-S3	cervix:	n/a	n/a
43	EBF1	chr6:35656542-35656773	GM12878	blood:	n/a	n/a
44	PML	chr6:35656431-35656799	MCF-7	breast:	n/a	n/a
45	NFYA	chr6:35656448-35657088	Hela-S3	cervix:	n/a	n/a
46	BCLAF1	chr6:35656118-35656848	K562	blood:	n/a	chr6:35656126-35656139 chr6:35656279-35656292 chr6:35656423-35656436
47	UBTF	chr6:35654993-35656790	K562	blood:	n/a	n/a
48	TBP	chr6:35656589-35657131	GM12878	blood:	n/a	n/a
49	ZBTB33	chr6:35656430-35656871	HCT-116	colon:	n/a	n/a
50	TBL1XR1	chr6:35656448-35657056	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:35649127..35664209-chr6:35693738..35704622,45	K562	blood:
2	chr6:35656516..35657052-chr7:39663216..39663813,2	Hela-S3	cervix:
3	chr6:35655179..35657311-chr6:35699143..35705251,6	MCF-7	breast:
4	chr6:35630752..35636758-chr6:35653263..35658179,9	K562	blood:
5	chr6:35654784..35658036-chr6:35702203..35706321,5	MCF-7	breast:
6	chr6:35654560..35658324-chr6:35694292..35699560,11	MCF-7	breast:
7	chr15:75660565..75661351-chr6:35656003..35656976,2	Hela-S3	cervix:
8	chr16:31191242..31191988-chr6:35656271..35657158,2	Hela-S3	cervix:
9	chr6:35653875..35657933-chr6:35692950..35698749,12	MCF-7	breast:
10	chr6:35464601..35467910-chr6:35655207..35659461,3	K562	blood:
11	chr6:35463571..35465690-chr6:35654249..35656915,2	K562	blood:
12	chr2:10262416..10262948-chr6:35656174..35657022,2	NB4	blood:
13	chr6:35649031..35660636-chr6:35692310..35701686,35	K562	blood:
14	chr6:35654156..35657013-chr6:35704693..35707749,4	K562	blood:
15	chr16:31884910..31885705-chr6:35656392..35657131,2	Hela-S3	cervix:
16	chr12:121837205..121837751-chr6:35656008..35656965,2	NB4	blood:

Variant related genes	Relation type
FKBP5	TF binding region
ENSG00000089280	Chromatin interaction
ENSG00000007866	Chromatin interaction
ENSG00000232909	Chromatin interaction
ENSG00000096060	Chromatin interaction
ENSG00000157343	Chromatin interaction
ENSG00000089053	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000185947	Chromatin interaction
ENSG00000006451	Chromatin interaction
ENSG00000265527	Chromatin interaction
ENSG00000140400	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758048	chr6:35463741-35806504	Genic enhancers Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759420	chr6:35463741-35806504	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv602924	chr6:35505311-35750299	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv885801	chr6:35537406-35671651	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv3430300	chr6:35549151-35959004	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv5258	chr6:35601724-35658344	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv821646	chr6:35604428-35802594	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv885802	chr6:35621781-35787417	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
9	nsv885803	chr6:35621781-35805133	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv885804	chr6:35621781-35809776	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv428143	chr6:35637083-35806504	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	esv14568	chr6:35655914-35656759	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35652200-35657000	Active TSS	Psoas Muscle	Psoas
2	chr6:35652800-35656800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr6:35652800-35656800	Active TSS	Ovary	ovary
4	chr6:35652800-35656800	Active TSS	Right Ventricle	heart
5	chr6:35652800-35657000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:35653400-35656800	Active TSS	Muscle Satellite Cultured Cells	--
7	chr6:35653400-35656800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:35653400-35656800	Active TSS	Stomach Smooth Muscle	stomach
9	chr6:35653400-35657000	Active TSS	NHEK	skin
10	chr6:35653600-35656800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:35653600-35656800	Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr6:35653600-35656800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr6:35653600-35656800	Active TSS	HMEC	breast
14	chr6:35653800-35656800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr6:35653800-35656800	Active TSS	Liver	Liver
16	chr6:35653800-35656800	Active TSS	GM12878-XiMat	blood
17	chr6:35653800-35656800	Active TSS	K562	blood
18	chr6:35653800-35657000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:35653800-35657000	Active TSS	Brain Substantia Nigra	brain
20	chr6:35653800-35657000	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr6:35654000-35657000	Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr6:35654000-35657000	Active TSS	Brain Anterior Caudate	brain
23	chr6:35654000-35657000	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr6:35654200-35656800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:35654200-35656800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:35654200-35657000	Active TSS	Duodenum Mucosa	Duodenum
27	chr6:35654400-35656800	Active TSS	Aorta	Aorta
28	chr6:35654400-35656800	Active TSS	Fetal Thymus	thymus
29	chr6:35654400-35657000	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr6:35654400-35657000	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr6:35654400-35657000	Active TSS	Brain Cingulate Gyrus	brain
32	chr6:35654400-35657000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr6:35654400-35657000	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr6:35654600-35657000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:35654600-35657000	Active TSS	Brain Angular Gyrus	brain
36	chr6:35654600-35657000	Active TSS	Brain Hippocampus Middle	brain
37	chr6:35654600-35657000	Active TSS	HSMM	muscle
38	chr6:35654600-35657000	Active TSS	HSMMtube	muscle
39	chr6:35654800-35656800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:35654800-35656800	Active TSS	Monocytes-CD14+_RO01746	blood
41	chr6:35654800-35657000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:35655000-35656800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:35655000-35656800	Active TSS	Left Ventricle	heart
44	chr6:35655000-35656800	Active TSS	Pancreas	Pancrea
45	chr6:35655000-35656800	Active TSS	Small Intestine	intestine
46	chr6:35655000-35656800	Active TSS	A549	lung
47	chr6:35655000-35656800	Active TSS	HUVEC	blood vessel
48	chr6:35655000-35656800	Active TSS	NHDF-Ad	bronchial
49	chr6:35655000-35656800	Active TSS	NHLF	lung
50	chr6:35655000-35657000	Active TSS	H9 Cell Line	embryonic stem cell

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