Variant report

Variant	rs7771066
Chromosome Location	chr6:5260385-5260386
allele	A/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	MYC	chr6:5260300-5261943	K562	blood:	n/a	chr6:5261926-5261935 chr6:5261528-5261538 chr6:5261646-5261656
2	POLR2A	chr6:5260212-5262541	GM12891	blood:	n/a	n/a
3	POLR2A	chr6:5260263-5260822	K562	blood:	n/a	n/a
4	TAF1	chr6:5260316-5262128	H1-hESC	embryonic stem cell:	n/a	n/a
5	RCOR1	chr6:5260285-5262012	K562	blood:	n/a	n/a
6	MAX	chr6:5260382-5262148	HCT-116	colon:	n/a	chr6:5261926-5261935 chr6:5261528-5261538 chr6:5261646-5261656
7	HCFC1	chr6:5260243-5262113	K562	blood:	n/a	n/a
8	CREB1	chr6:5260293-5262056	GM12878	blood:	n/a	n/a
9	ATF1	chr6:5260289-5260755	K562	blood:	n/a	n/a
10	MXI1	chr6:5260273-5262162	HepG2	liver:	n/a	chr6:5261474-5261489
11	MAX	chr6:5260150-5262141	HepG2	liver:	n/a	chr6:5261926-5261935 chr6:5261528-5261538 chr6:5261646-5261656
12	ZMIZ1	chr6:5260311-5260774	K562	blood:	n/a	n/a
13	IRF1	chr6:5260310-5261965	K562	blood:	n/a	chr6:5261504-5261518 chr6:5261194-5261208 chr6:5261221-5261235 chr6:5261232-5261246
14	POLR2A	chr6:5260122-5262141	SK-N-MC	brain:	n/a	n/a
15	MXI1	chr6:5260305-5262442	Hela-S3	cervix:	n/a	chr6:5261474-5261489
16	UBTF	chr6:5260307-5260714	K562	blood:	n/a	n/a
17	JUND	chr6:5260301-5262032	K562	blood:	n/a	n/a
18	HCFC1	chr6:5259374-5262547	Hela-S3	cervix:	n/a	n/a
19	MXI1	chr6:5259910-5262664	SK-N-SH	brain:	n/a	chr6:5261474-5261489
20	POLR2A	chr6:5259206-5262355	MCF10A-Er-Src	breast:	n/a	n/a
21	UBTF	chr6:5260314-5262005	K562	blood:	n/a	n/a
22	POLR2A	chr6:5260367-5262627	GM12892	blood:	n/a	n/a
23	CTCF	chr6:5260380-5260530	HepG2	liver:	n/a	n/a
24	POLR2A	chr6:5260322-5262005	K562	blood:	n/a	n/a
25	CTCF	chr6:5260380-5260530	HEK293	kidney:	n/a	n/a
26	POLR2A	chr6:5260349-5262284	Raji	blood:	n/a	n/a
27	POLR2A	chr6:5260141-5261246	GM12892	blood:	n/a	n/a
28	MAFK	chr6:5260200-5260671	K562	blood:	n/a	n/a
29	SMC3	chr6:5260090-5262382	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr6:5260251-5260814	GM12891	blood:	n/a	n/a
31	TFAP2C	chr6:5260377-5262010	Hela-S3	cervix:	n/a	n/a
32	MYC	chr6:5259692-5261974	MCF10A-Er-Src	breast:	n/a	chr6:5261926-5261935 chr6:5261528-5261538 chr6:5259845-5259856 chr6:5261646-5261656
33	POLR2A	chr6:5260194-5262496	HepG2	liver:	n/a	n/a
34	JUN	chr6:5260099-5262034	K562	blood:	n/a	n/a
35	GTF2F1	chr6:5260253-5261925	Hela-S3	cervix:	n/a	n/a
36	ZNF384	chr6:5260251-5261962	K562	blood:	n/a	n/a
37	POLR2A	chr6:5260323-5262026	NB4	blood:	n/a	n/a
38	REST	chr6:5260305-5262354	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr6:5260332-5261458	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr6:5260306-5260810	GM12891	blood:	n/a	n/a
41	POLR2A	chr6:5260231-5261993	HepG2	liver:	n/a	n/a
42	CEBPB	chr6:5260195-5260779	Hela-S3	cervix:	n/a	n/a
43	YY1	chr6:5260359-5262182	SK-N-SH_RA	brain:	n/a	chr6:5261761-5261769 chr6:5261762-5261772 chr6:5261750-5261772 chr6:5261087-5261101 chr6:5261552-5261566 chr6:5261755-5261774 chr6:5261239-5261248 chr6:5261162-5261176
44	TBL1XR1	chr6:5260382-5262082	K562	blood:	n/a	n/a
45	HEY1	chr6:5260219-5261995	K562	blood:	n/a	chr6:5261279-5261294
46	FOS	chr6:5260225-5260655	MCF10A-Er-Src	breast:	n/a	n/a
47	MYC	chr6:5259990-5262001	A549	lung:	n/a	chr6:5261926-5261935 chr6:5261528-5261538 chr6:5261646-5261656
48	MAX	chr6:5260289-5262033	NB4	blood:	n/a	chr6:5261926-5261935 chr6:5261528-5261538 chr6:5261646-5261656
49	STAT3	chr6:5260226-5260622	MCF10A-Er-Src	breast:	n/a	n/a
50	MYC	chr6:5260060-5262278	K562	blood:	n/a	chr6:5261926-5261935 chr6:5261528-5261538 chr6:5261646-5261656

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5230476..5232022-chr6:5258422..5260596,2	MCF-7	breast:

Variant related genes	Relation type
FARS2	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10498666	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17139873	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17140085	0.89[YRI][hapmap]
rs17140092	0.83[GIH][hapmap];0.84[LWK][hapmap];0.82[MEX][hapmap];0.89[YRI][hapmap]
rs4481464	0.89[ASW][hapmap];1.00[CEU][hapmap];0.85[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55960383	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6921061	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6921237	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6939454	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73363048	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73363050	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73363073	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73363074	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73363091	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73363098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73365003	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7754129	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7766566	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7768590	0.88[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7772716	1.00[GIH][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv600872	chr6:4975313-5342190	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1034681	chr6:5070351-5387176	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv538113	chr6:5070351-5387176	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1018152	chr6:5077025-5387176	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv600873	chr6:5089278-5400658	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1030254	chr6:5132261-5431585	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1034463	chr6:5137959-5345678	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1021646	chr6:5157795-5367254	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv538115	chr6:5157795-5367254	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1029609	chr6:5187633-5397254	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1035080	chr6:5206533-5396019	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv538116	chr6:5206533-5396019	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv1016456	chr6:5216835-5315913	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv538117	chr6:5216835-5315913	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv522457	chr6:5245070-5260936	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv1028185	chr6:5247624-5340163	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr6:5241000-5260400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:5255400-5260400	Weak transcription	Aorta	Aorta
3	chr6:5259600-5260400	Enhancers	Spleen	Spleen
4	chr6:5259600-5260400	Flanking Active TSS	Hela-S3	cervix
5	chr6:5259600-5260400	Flanking Active TSS	HepG2	liver
6	chr6:5259600-5260600	Flanking Active TSS	Dnd41	blood
7	chr6:5259600-5263000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:5259600-5263200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr6:5259800-5260400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:5259800-5260400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:5259800-5260400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr6:5259800-5260400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr6:5259800-5260400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr6:5259800-5260400	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr6:5259800-5260400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr6:5259800-5260400	Flanking Active TSS	HMEC	breast
17	chr6:5259800-5260400	Flanking Active TSS	NHEK	skin
18	chr6:5259800-5260600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:5259800-5260600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:5259800-5260600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:5259800-5260600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:5259800-5260600	Flanking Active TSS	Brain Angular Gyrus	brain
23	chr6:5259800-5260600	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr6:5259800-5260600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:5259800-5260600	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr6:5259800-5260600	Flanking Active TSS	Fetal Brain Female	brain
27	chr6:5259800-5260800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:5259800-5262200	Active TSS	Stomach Smooth Muscle	stomach
29	chr6:5259800-5262800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:5259800-5262800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:5259800-5263200	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr6:5260000-5260400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:5260000-5260400	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr6:5260000-5260400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:5260000-5260400	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr6:5260000-5260400	Flanking Active TSS	Fetal Intestine Large	intestine
37	chr6:5260000-5260400	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr6:5260000-5260400	Weak transcription	Small Intestine	intestine
39	chr6:5260000-5260400	Flanking Active TSS	HSMM	muscle
40	chr6:5260000-5260600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:5260000-5260600	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr6:5260000-5260600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr6:5260000-5260600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr6:5260000-5260600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr6:5260000-5260600	Flanking Active TSS	Liver	Liver
46	chr6:5260000-5260600	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr6:5260000-5260600	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr6:5260000-5260600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr6:5260000-5260600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr6:5260000-5260600	Flanking Active TSS	Rectal Smooth Muscle	rectum

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