Variant report

Variant	rs4713355
Chromosome Location	chr6:30685810-30685811
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	TEAD4	chr6:30684167-30685849	K562	blood:	n/a	n/a
2	POLR2A	chr6:30684196-30685822	MCF-7	breast:	n/a	n/a
3	YY1	chr6:30684528-30685827	ECC-1	luminal epithelium:	n/a	chr6:30684977-30684985 chr6:30684794-30684816 chr6:30684952-30684963 chr6:30685167-30685176 chr6:30684966-30684988
4	YY1	chr6:30684404-30685861	HepG2	liver:	n/a	chr6:30684977-30684985 chr6:30684794-30684816 chr6:30684952-30684963 chr6:30685167-30685176 chr6:30684966-30684988
5	MTA3	chr6:30683646-30685838	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:30683610-30695318	SK-N-MC	brain:	n/a	n/a
7	SRF	chr6:30684843-30685839	MCF-7	breast:	n/a	chr6:30684998-30685008
8	JUN	chr6:30684121-30685877	K562	blood:	n/a	chr6:30685104-30685113 chr6:30685571-30685580 chr6:30685463-30685471 chr6:30685461-30685473 chr6:30685461-30685472 chr6:30685649-30685658
9	YY1	chr6:30684202-30685812	K562	blood:	n/a	chr6:30684977-30684985 chr6:30684794-30684816 chr6:30684952-30684963 chr6:30685167-30685176 chr6:30684966-30684988
10	POLR2A	chr6:30684634-30685873	SK-N-SH	brain:	n/a	n/a
11	ELF1	chr6:30684703-30685811	MCF-7	breast:	n/a	n/a
12	SP2	chr6:30684748-30685861	HepG2	liver:	n/a	chr6:30685165-30685180 chr6:30685108-30685131
13	YY1	chr6:30684533-30685865	GM12892	blood:	n/a	chr6:30684977-30684985 chr6:30684794-30684816 chr6:30684952-30684963 chr6:30685167-30685176 chr6:30684966-30684988
14	POLR2A	chr6:30684183-30685823	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr6:30684084-30685884	PFSK-1	brain:	n/a	n/a
16	ATF2	chr6:30684696-30685821	GM12878	blood:	n/a	n/a
17	PML	chr6:30684172-30685874	K562	blood:	n/a	n/a
18	SP2	chr6:30684750-30685847	H1-hESC	embryonic stem cell:	n/a	chr6:30685165-30685180 chr6:30685108-30685131
19	NR2F2	chr6:30683678-30685879	K562	blood:	n/a	n/a
20	POLR2A	chr6:30684757-30685862	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr6:30684605-30685812	H1-neurons	neurons:	n/a	n/a
22	SIN3AK20	chr6:30684512-30685921	MCF-7	breast:	n/a	n/a
23	POLR2A	chr6:30684632-30685912	U87	brain:	n/a	n/a
24	POLR2A	chr6:30684486-30685877	K562	blood:	n/a	n/a
25	REST	chr6:30684272-30685942	H1-neurons	neurons:	n/a	n/a
26	YY1	chr6:30684534-30685819	SK-N-SH	brain:	n/a	chr6:30684977-30684985 chr6:30684794-30684816 chr6:30684952-30684963 chr6:30685167-30685176 chr6:30684966-30684988
27	POLR2A	chr6:30684474-30686482	K562	blood:	n/a	n/a
28	POLR2A	chr6:30683690-30685813	GM12878	blood:	n/a	n/a
29	YY1	chr6:30684521-30685811	GM12878	blood:	n/a	chr6:30684977-30684985 chr6:30684794-30684816 chr6:30684952-30684963 chr6:30685167-30685176 chr6:30684966-30684988
30	NFIC	chr6:30684069-30685879	GM12878	blood:	n/a	chr6:30684774-30684791 chr6:30684774-30684790
31	FOXM1	chr6:30684557-30685817	ECC-1	luminal epithelium:	n/a	n/a
32	SP2	chr6:30684510-30685923	HepG2	liver:	n/a	chr6:30685165-30685180 chr6:30685108-30685131
33	POLR2A	chr6:30684193-30685905	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr6:30683916-30687159	HepG2	liver:	n/a	n/a
35	HCFC1	chr6:30684213-30685980	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr6:30684410-30685923	H1-hESC	embryonic stem cell:	n/a	n/a
37	PML	chr6:30684161-30685864	K562	blood:	n/a	n/a
38	SIN3AK20	chr6:30684617-30685831	MCF-7	breast:	n/a	n/a
39	TCF12	chr6:30684491-30685840	ECC-1	luminal epithelium:	n/a	chr6:30685363-30685370
40	POLR2A	chr6:30683852-30685862	GM12878	blood:	n/a	n/a
41	RUNX3	chr6:30684056-30685828	GM12878	blood:	n/a	n/a
42	YY1	chr6:30684451-30685949	SK-N-SH	brain:	n/a	chr6:30684977-30684985 chr6:30684794-30684816 chr6:30684952-30684963 chr6:30685167-30685176 chr6:30684966-30684988
43	EP300	chr6:30684739-30685843	SK-N-SH	brain:	n/a	chr6:30685569-30685583 chr6:30685391-30685398 chr6:30685573-30685582
44	POLR2A	chr6:30684120-30685851	K562	blood:	n/a	n/a
45	PML	chr6:30683963-30685891	GM12878	blood:	n/a	n/a
46	JUND	chr6:30685101-30685849	MCF-7	breast:	n/a	chr6:30685104-30685113 chr6:30685571-30685580 chr6:30685463-30685471 chr6:30685461-30685473 chr6:30685461-30685472 chr6:30685649-30685658
47	YY1	chr6:30684657-30685845	H1-hESC	embryonic stem cell:	n/a	chr6:30684977-30684985 chr6:30684794-30684816 chr6:30684952-30684963 chr6:30685167-30685176 chr6:30684966-30684988
48	MXI1	chr6:30684240-30685879	SK-N-SH	brain:	n/a	n/a
49	TEAD4	chr6:30684473-30685854	HepG2	liver:	n/a	n/a
50	TRIM28	chr6:30684071-30685881	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:30523499..30526116-chr6:30685040..30688824,4	MCF-7	breast:
2	chr6:30685058..30687209-chr6:30852136..30853794,2	MCF-7	breast:
3	chr6:30613134..30616889-chr6:30684889..30690956,7	MCF-7	breast:
4	chr6:30618982..30621616-chr6:30685641..30687439,2	K562	blood:
5	chr6:30482934..30485578-chr6:30684677..30686611,2	K562	blood:
6	chr17:73775360..73776254-chr6:30684520..30685811,3	Hela-S3	cervix:
7	chr6:30576582..30588788-chr6:30682721..30700088,114	K562	blood:
8	chr6:30634661..30668428-chr6:30680318..30698953,145	MCF-7	breast:
9	chr6:30608315..30616989-chr6:30683761..30694958,31	K562	blood:
10	chr6:30591444..30595401-chr6:30685466..30689259,5	K562	blood:
11	chr6:30684320..30686534-chr6:30879167..30882068,2	MCF-7	breast:
12	chr6:30483905..30485578-chr6:30685111..30687168,2	K562	blood:
13	chr6:30683909..30686000-chr6:31586796..31589035,2	MCF-7	breast:
14	chr6:30577862..30587208-chr6:30682997..30696247,43	MCF-7	breast:
15	chr6:30685130..30687169-chr6:30748703..30751412,3	K562	blood:
16	chr6:30455852..30458015-chr6:30684660..30687891,3	K562	blood:
17	chr6:30685105..30690458-chr6:30847596..30854595,13	MCF-7	breast:
18	chr6:30590782..30598373-chr6:30685661..30690473,13	MCF-7	breast:
19	chr6:30682386..30686066-chr6:30878897..30882722,4	K562	blood:
20	chr6:30643326..30660432-chr6:30681522..30696111,127	MCF-7	breast:
21	chr6:30683784..30686577-chr6:30843156..30844763,2	K562	blood:
22	chr6:30577773..30589670-chr6:30680333..30700280,58	MCF-7	breast:
23	chr6:30670013..30672002-chr6:30685618..30688068,3	MCF-7	breast:

Variant related genes	Relation type
MDC1	TF binding region
TUBB	TF binding region
ENSG00000237775	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000137404	Chromatin interaction
ENSG00000137343	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000230449	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000224328	Chromatin interaction
ENSG00000235781	Chromatin interaction
ENSG00000204560	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000204564	Chromatin interaction
ENSG00000228022	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000146112	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000213780	Chromatin interaction
ENSG00000266183	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17292678	0.88[ASN][1000 genomes]
rs4711223	1.00[AFR][1000 genomes]
rs4713346	1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4713351	1.00[AFR][1000 genomes]
rs57999057	0.88[ASN][1000 genomes]
rs61572689	1.00[AFR][1000 genomes]

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	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS 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 lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases
6	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
7	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 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	chr6:30683800-30686800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr6:30684000-30686200	Active TSS	K562	blood
3	chr6:30684200-30686000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:30684200-30686200	Active TSS	Fetal Brain Female	brain
5	chr6:30684200-30686400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr6:30684200-30686800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr6:30684400-30686000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:30684400-30686400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr6:30684400-30687000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:30684400-30690200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr6:30684600-30686000	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr6:30684600-30686000	Active TSS	Fetal Intestine Large	intestine
13	chr6:30684600-30686000	Active TSS	Fetal Kidney	kidney
14	chr6:30684600-30686400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:30684800-30686000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:30684800-30686000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:30684800-30686000	Active TSS	Fetal Intestine Small	intestine
18	chr6:30684800-30686000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr6:30684800-30686000	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr6:30684800-30686000	Active TSS	Stomach Smooth Muscle	stomach
21	chr6:30684800-30686000	Active TSS	Hela-S3	cervix
22	chr6:30684800-30686200	Active TSS	Dnd41	blood
23	chr6:30684800-30686400	Active TSS	GM12878-XiMat	blood
24	chr6:30684800-30686800	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr6:30684800-30688800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:30684800-30689600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:30685000-30687000	Active TSS	Brain Germinal Matrix	brain
28	chr6:30685000-30687200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr6:30685200-30687200	Weak transcription	Lung	lung
30	chr6:30685200-30689400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:30685400-30686000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr6:30685600-30686000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:30685600-30686000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:30685600-30686000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr6:30685600-30686400	Weak transcription	Small Intestine	intestine
36	chr6:30685600-30687000	Weak transcription	Spleen	Spleen
37	chr6:30685600-30687200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr6:30685600-30687400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:30685600-30687400	Weak transcription	Pancreas	Pancrea
40	chr6:30685600-30687600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:30685600-30687600	Weak transcription	Gastric	stomach
42	chr6:30685600-30687800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr6:30685800-30686000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:30685800-30686000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:30685800-30686000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:30685800-30686000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr6:30685800-30686000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr6:30685800-30686000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:30685800-30686000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:30685800-30686000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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