Variant report

Variant	rs4713778
Chromosome Location	chr6:34393591-34393592
allele	G/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	MAX	chr6:34393549-34394282	HCT-116	colon:	n/a	chr6:34393894-34393904
2	POLR2A	chr6:34393064-34394097	IMR90	lung:	n/a	n/a
3	POLR2A	chr6:34392845-34394223	PANC-1	pancreas:	n/a	n/a
4	ZNF263	chr6:34392670-34394171	HEK293-T-REx	kidney:	n/a	chr6:34392808-34392817
5	TCF12	chr6:34393558-34394220	ECC-1	luminal epithelium:	n/a	n/a
6	TAF7	chr6:34393077-34394167	H1-hESC	embryonic stem cell:	n/a	n/a
7	TBL1XR1	chr6:34393479-34394074	K562	blood:	n/a	n/a
8	POLR2A	chr6:34393568-34394137	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr6:34393140-34394158	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr6:34393015-34394169	GM12878	blood:	n/a	n/a
11	RELA	chr6:34393419-34394187	GM19099	blood:	n/a	n/a
12	SP1	chr6:34393519-34394251	HCT-116	colon:	n/a	chr6:34393887-34393899 chr6:34393888-34393897 chr6:34393887-34393899 chr6:34393888-34393898
13	POLR2A	chr6:34393041-34394160	GM12891	blood:	n/a	n/a
14	MYC	chr6:34393021-34394174	K562	blood:	n/a	chr6:34393894-34393904 chr6:34393040-34393050
15	NFIC	chr6:34393518-34394239	GM12878	blood:	n/a	n/a
16	POLR2A	chr6:34393361-34394164	ProgFib	skin:	n/a	n/a
17	TAL1	chr6:34393513-34394123	K562	blood:	n/a	n/a
18	POLR2A	chr6:34393472-34394303	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr6:34393470-34393594	A549	lung:	n/a	n/a
20	POLR2A	chr6:34392951-34394233	K562	blood:	n/a	n/a
21	HEY1	chr6:34393424-34394247	HepG2	liver:	n/a	chr6:34393924-34393939
22	POLR2A	chr6:34392953-34394062	GM12892	blood:	n/a	n/a
23	POLR2A	chr6:34391702-34394136	K562	blood:	n/a	n/a
24	ELF1	chr6:34393478-34394326	HCT-116	colon:	n/a	chr6:34394007-34394016 chr6:34393869-34393882
25	MXI1	chr6:34392890-34394414	IMR90	lung:	n/a	n/a
26	POLR2A	chr6:34393426-34394224	U87	brain:	n/a	n/a
27	GABPA	chr6:34393496-34394136	K562	blood:	n/a	chr6:34393849-34393863 chr6:34393849-34393860
28	POLR2A	chr6:34391816-34394210	GM12892	blood:	n/a	n/a
29	POLR2A	chr6:34392968-34394072	GM12878	blood:	n/a	n/a
30	TAF1	chr6:34393395-34394103	GM12892	blood:	n/a	n/a
31	WRNIP1	chr6:34393114-34393983	GM12878	blood:	n/a	n/a
32	MYC	chr6:34392787-34394192	K562	blood:	n/a	chr6:34393894-34393904 chr6:34393040-34393050
33	MYC	chr6:34393331-34394083	MCF-7	breast:	n/a	chr6:34393894-34393904
34	POLR2A	chr6:34392973-34394250	SK-N-SH	brain:	n/a	n/a
35	PML	chr6:34393168-34394302	GM12878	blood:	n/a	n/a
36	POLR2A	chr6:34392985-34394179	PBDE	blood:	n/a	n/a
37	MAX	chr6:34392900-34394351	HCT-116	colon:	n/a	chr6:34393894-34393904 chr6:34393040-34393050
38	MAX	chr6:34393021-34394183	NB4	blood:	n/a	chr6:34393894-34393904 chr6:34393040-34393050
39	POLR2A	chr6:34392067-34394050	H1-hESC	embryonic stem cell:	n/a	n/a
40	MYBL2	chr6:34393507-34394251	HepG2	liver:	n/a	n/a
41	MAX	chr6:34392534-34394124	K562	blood:	n/a	chr6:34393894-34393904 chr6:34393040-34393050
42	REST	chr6:34393572-34393944	PANC-1	pancreas:	n/a	chr6:34393856-34393866
43	MAZ	chr6:34393562-34394230	HepG2	liver:	n/a	chr6:34393894-34393904
44	HEY1	chr6:34393095-34394150	HepG2	liver:	n/a	chr6:34393924-34393939
45	REST	chr6:34393524-34394104	HepG2	liver:	n/a	chr6:34393856-34393866
46	POLR2A	chr6:34393420-34394074	A549	lung:	n/a	n/a
47	FOXM1	chr6:34393482-34394196	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:34393209-34393596	HCT-116	colon:	n/a	n/a
49	SIN3AK20	chr6:34393557-34394075	HepG2	liver:	n/a	n/a
50	TBP	chr6:34393344-34394131	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:34202622..34206817-chr6:34391790..34393979,3	MCF-7	breast:
2	chr6:34209798..34218235-chr6:34387971..34396103,20	K562	blood:
3	chr6:34203584..34206226-chr6:34392090..34394590,2	K562	blood:
4	chr6:34357967..34362826-chr6:34390808..34395314,8	K562	blood:
5	chr13:28023643..28024354-chr6:34393046..34393849,2	Hela-S3	cervix:
6	chr11:46449233..46452238-chr6:34392226..34393967,6	K562	blood:
7	chr6:34212618..34219497-chr6:34387813..34394246,15	K562	blood:
8	chr6:34393013..34393817-chr9:130212883..130213745,2	Hela-S3	cervix:
9	chr6:34391617..34394715-chr6:34431838..34435722,3	MCF-7	breast:
10	chr15:101834947..101835608-chr6:34393258..34393900,2	Hela-S3	cervix:
11	chr11:46449218..46452238-chr6:34392341..34394490,5	MCF-7	breast:
12	chr6:34392492..34394082-chr6:34758851..34761190,2	MCF-7	breast:
13	chr6:34392408..34394621-chr6:34663502..34666102,2	K562	blood:
14	chr6:34358853..34362255-chr6:34392162..34395391,9	MCF-7	breast:
15	chr6:34392363..34394175-chr6:34723427..34725918,3	MCF-7	breast:
16	chr6:34203686..34207490-chr6:34388234..34395019,9	K562	blood:
17	chr6:34358195..34361774-chr6:34391620..34393850,4	K562	blood:
18	chr6:34392840..34394590-chr6:34855825..34858514,2	K562	blood:
19	chr11:46449211..46452238-chr6:34390894..34393967,4	K562	blood:
20	chr6:32936292..32939162-chr6:34392465..34394663,2	MCF-7	breast:
21	chr17:60554747..60557192-chr6:34392556..34394064,2	MCF-7	breast:
22	chr6:34203866..34208750-chr6:34388488..34394053,10	MCF-7	breast:
23	chr11:46450213..46450713-chr6:34392822..34393736,2	Hela-S3	cervix:
24	chr6:34215435..34217871-chr6:34390764..34394019,4	MCF-7	breast:
25	chr11:46450238..46451231-chr6:34393265..34393905,3	MCF-7	breast:

Variant related genes	Relation type
RPS10	TF binding region
ENSG00000223837	Chromatin interaction
ENSG00000122033	Chromatin interaction
ENSG00000124507	Chromatin interaction
ENSG00000065060	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000064995	Chromatin interaction
ENSG00000186577	Chromatin interaction
ENSG00000197958	Chromatin interaction
ENSG00000064999	Chromatin interaction
ENSG00000131876	Chromatin interaction
ENSG00000272288	Chromatin interaction
ENSG00000244313	Chromatin interaction
ENSG00000124562	Chromatin interaction
ENSG00000204257	Chromatin interaction
ENSG00000272325	Chromatin interaction
ENSG00000146872	Chromatin interaction
ENSG00000137309	Chromatin interaction
ENSG00000196821	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10947509	1.00[AMR][1000 genomes]
rs12660150	1.00[AFR][1000 genomes]
rs172280	1.00[YRI][hapmap]
rs182280	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1889733	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs205271	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs205272	1.00[AMR][1000 genomes]
rs205273	1.00[AMR][1000 genomes]
rs205274	1.00[AMR][1000 genomes]
rs205275	1.00[AMR][1000 genomes]
rs205277	1.00[AMR][1000 genomes]
rs205278	1.00[AMR][1000 genomes]
rs205285	1.00[AMR][1000 genomes]
rs206922	1.00[YRI][hapmap]
rs206928	1.00[YRI][hapmap]
rs206929	1.00[AMR][1000 genomes]
rs206931	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs206932	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs206933	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs206934	1.00[AMR][1000 genomes]
rs206938	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs206939	1.00[AMR][1000 genomes]
rs206940	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2182382	1.00[AMR][1000 genomes]
rs2395557	1.00[AMR][1000 genomes]
rs2395558	1.00[AMR][1000 genomes]
rs2395563	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2395565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2395566	1.00[AMR][1000 genomes]
rs2840286	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2894399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3843524	1.00[AMR][1000 genomes]
rs3846865	1.00[AMR][1000 genomes]
rs3846870	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3857561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs443351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs453919	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs460389	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs462194	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs466031	1.00[YRI][hapmap]
rs4713814	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6457780	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6457782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6457783	1.00[AMR][1000 genomes]
rs6908420	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6913723	1.00[AMR][1000 genomes]
rs6918865	1.00[AMR][1000 genomes]
rs6922059	1.00[AMR][1000 genomes]
rs7760590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7773372	1.00[YRI][hapmap]
rs7774674	1.00[AMR][1000 genomes]
rs9296118	1.00[AMR][1000 genomes]
rs9394233	1.00[YRI][hapmap]
rs9461986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34391600-34394000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr6:34392000-34393600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
3	chr6:34392000-34393600	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr6:34392400-34394000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:34392400-34394000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
6	chr6:34392400-34394400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:34392600-34393600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:34392600-34393600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
9	chr6:34392600-34393800	Active TSS	Small Intestine	intestine
10	chr6:34392600-34394000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
11	chr6:34392600-34394200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:34392600-34394200	Active TSS	Psoas Muscle	Psoas
13	chr6:34392600-34394400	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr6:34392600-34394400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr6:34392800-34393600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr6:34392800-34393600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr6:34392800-34393600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:34392800-34393600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:34392800-34393600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:34392800-34393600	Flanking Active TSS	Placenta	Placenta
21	chr6:34392800-34393600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr6:34392800-34393800	Bivalent/Poised TSS	HepG2	liver
23	chr6:34392800-34394000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:34392800-34394000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:34392800-34394000	Active TSS	Gastric	stomach
26	chr6:34392800-34394200	Active TSS	Brain Anterior Caudate	brain
27	chr6:34392800-34394200	Active TSS	Esophagus	oesophagus
28	chr6:34392800-34394200	Active TSS	Fetal Kidney	kidney
29	chr6:34392800-34394200	Active TSS	Ovary	ovary
30	chr6:34392800-34394200	Active TSS	Right Ventricle	heart
31	chr6:34392800-34394200	Active TSS	HSMM	muscle
32	chr6:34392800-34394200	Active TSS	HSMMtube	muscle
33	chr6:34392800-34394200	Active TSS	NH-A	brain
34	chr6:34392800-34394200	Active TSS	NHDF-Ad	bronchial
35	chr6:34392800-34394200	Active TSS	NHLF	lung
36	chr6:34392800-34394400	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr6:34392800-34394400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:34392800-34394400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:34392800-34394400	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr6:34392800-34394400	Active TSS	Muscle Satellite Cultured Cells	--
41	chr6:34392800-34394400	Active TSS	Thymus	Thymus
42	chr6:34392800-34394400	Active TSS	Hela-S3	cervix
43	chr6:34392800-34394600	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr6:34392800-34394600	Active TSS	Rectal Smooth Muscle	rectum
45	chr6:34393000-34393800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr6:34393000-34393800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:34393000-34393800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr6:34393000-34394000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:34393000-34394000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:34393000-34394000	Active TSS	HUES48 Cell Line	embryonic stem cell

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