Variant report

Variant	rs560419503
Chromosome Location	chr6:26520793-26520794
allele	A/C
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	USF1	chr6:26520733-26521077	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr6:26520578-26521483	HL-60	blood:	n/a	n/a
3	USF1	chr6:26520535-26521004	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr6:26520792-26521400	NB4	blood:	n/a	n/a
5	RUNX3	chr6:26520604-26521006	GM12878	blood:	n/a	n/a
6	ATF3	chr6:26520742-26520897	GM12878	blood:	n/a	n/a
7	POLR2A	chr6:26520703-26521581	K562	blood:	n/a	n/a
8	SIN3AK20	chr6:26520707-26521045	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:26520748-26521566	K562	blood:	n/a	n/a
10	ELF1	chr6:26520683-26521298	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:26520658-26521100	GM12892	blood:	n/a	n/a
12	CHD2	chr6:26520781-26520975	K562	blood:	n/a	n/a
13	MAX	chr6:26520634-26521030	H1-hESC	embryonic stem cell:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26520809-26520820
14	MAX	chr6:26520543-26521095	SK-N-SH	brain:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26520809-26520820
15	POLR2A	chr6:26520684-26521058	PANC-1	pancreas:	n/a	n/a
16	MAX	chr6:26520505-26521041	MCF-7	breast:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26520809-26520820
17	EGR1	chr6:26520448-26521604	K562	blood:	n/a	chr6:26521323-26521336 chr6:26521328-26521343 chr6:26521329-26521342 chr6:26521322-26521337 chr6:26521047-26521061 chr6:26521350-26521363 chr6:26521083-26521097 chr6:26521332-26521341 chr6:26521327-26521337 chr6:26521063-26521077
18	USF2	chr6:26520674-26520973	K562	blood:	n/a	n/a
19	YY1	chr6:26520642-26521046	K562	blood:	n/a	n/a
20	POLR2A	chr6:26520766-26521041	Hela-S3	cervix:	n/a	n/a
21	CEBPD	chr6:26520719-26521647	K562	blood:	n/a	n/a
22	MXI1	chr6:26520639-26521037	GM12878	blood:	n/a	chr6:26520809-26520818
23	FOSL2	chr6:26520718-26521810	SK-N-SH	brain:	n/a	chr6:26521014-26521024 chr6:26521354-26521363
24	MAX	chr6:26520313-26521740	HepG2	liver:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26521328-26521338 chr6:26520809-26520820
25	POLR2A	chr6:26520247-26521311	HepG2	liver:	n/a	n/a
26	MXI1	chr6:26520387-26522051	SK-N-SH	brain:	n/a	chr6:26520809-26520818
27	ZC3H11A	chr6:26520542-26521008	K562	blood:	n/a	n/a
28	TBL1XR1	chr6:26520597-26520911	K562	blood:	n/a	n/a
29	TBL1XR1	chr6:26520717-26520912	GM12878	blood:	n/a	n/a
30	ELK1	chr6:26520785-26520933	GM12878	blood:	n/a	n/a
31	POLR2A	chr6:26520570-26521064	K562	blood:	n/a	n/a
32	MYC	chr6:26520662-26520927	HUVEC	blood vessel:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26520809-26520820
33	MTA3	chr6:26520278-26521040	GM12878	blood:	n/a	n/a
34	SIN3AK20	chr6:26520626-26521059	K562	blood:	n/a	n/a
35	POLR2A	chr6:26520394-26521034	PANC-1	pancreas:	n/a	n/a
36	MAX	chr6:26520515-26521763	HCT-116	colon:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26521328-26521338 chr6:26520809-26520820
37	MAX	chr6:26520488-26521037	A549	lung:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26520809-26520820
38	POLR2A	chr6:26520639-26521060	K562	blood:	n/a	n/a
39	USF1	chr6:26520713-26520870	GM12878	blood:	n/a	n/a
40	POLR2A	chr6:26520702-26520829	A549	lung:	n/a	n/a
41	MAX	chr6:26520363-26522824	A549	lung:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26521328-26521338 chr6:26520809-26520820
42	PML	chr6:26520480-26521311	K562	blood:	n/a	n/a
43	USF1	chr6:26520693-26521022	A549	lung:	n/a	n/a
44	YY1	chr6:26520647-26521023	HepG2	liver:	n/a	n/a
45	USF1	chr6:26520649-26521009	SK-N-SH_RA	brain:	n/a	n/a
46	EP300	chr6:26520758-26521001	K562	blood:	n/a	n/a
47	MYC	chr6:26520482-26521057	K562	blood:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26520809-26520820
48	TAF1	chr6:26520694-26521073	PFSK-1	brain:	n/a	n/a
49	ELF1	chr6:26520624-26521067	HepG2	liver:	n/a	n/a
50	MTA3	chr6:26520571-26521086	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:26520793-26520843	GM12891	blood:	n/a
2	chr6:26520793-26520843	SAEC	small airway:	n/a
3	chr6:26520793-26520843	LNCaP	prostate:	n/a
4	chr6:26520793-26520843	HUVEC	blood vessel:	n/a
5	chr6:26520793-26520843	T-47D	breast:	n/a
6	chr6:26520793-26520843	ovcar-3	ovarian:	n/a
7	chr6:26520793-26520843	HIPEpiC	eye:	n/a
8	chr6:26520793-26520843	H1-hESC	embryonic stem cell:	embryo
9	chr6:26520793-26520843	Caco-2	colon:	n/a
10	chr6:26520793-26520843	AG04449	skin:	fetal
11	chr6:26520793-26520843	HMEC	breast:	n/a
12	chr6:26520793-26520843	Hepatocyte	liver:	n/a
13	chr6:26520793-26520843	AoSMC	blood vessel:	n/a
14	chr6:26520793-26520843	CMK	blood:	n/a
15	chr6:26520793-26520843	HCF	heart:	n/a
16	chr6:26520793-26520843	NT2-D1	testis:	n/a
17	chr6:26520793-26520843	HRE	kidney:	n/a
18	chr6:26520793-26520843	GM12892	blood:	n/a
19	chr6:26520793-26520843	HPAEpiC	pulmonary alveolar:	n/a
20	chr6:26520793-26520843	AG09309	skin:	n/a
21	chr6:26520793-26520843	HL-60	blood:	n/a
22	chr6:26520793-26520843	PANC-1	pancreas:	n/a
23	chr6:26520793-26520843	GM06990	blood:	n/a
24	chr6:26520793-26520843	NH-A	brain:	n/a
25	chr6:26520793-26520843	PrEC	prostate:	n/a
26	chr6:26520793-26520843	AG09319	gingival:	n/a
27	chr6:26520793-26520843	HRCEpiC	kidney:	n/a
28	chr6:26520793-26520843	HNPCEpiC	eye:	n/a
29	chr6:26520793-26520843	SK-N-MC	brain:	n/a
30	chr6:26520793-26520843	MCF10A-Er-Src	breast:	n/a
31	chr6:26520793-26520843	Hela-S3	cervix:	n/a
32	chr6:26520793-26520843	NB4	blood:	n/a
33	chr6:26520793-26520843	HCT-116	colon:	n/a
34	chr6:26520793-26520843	HAEpiC	amniotic membrane:	n/a
35	chr6:26520793-26520843	AG10803	skin:	n/a
36	chr6:26520793-26520843	HepG2	liver:	n/a
37	chr6:26520793-26520843	GM12878	blood:	n/a
38	chr6:26520793-26520843	HCM	heart:	n/a
39	chr6:26520793-26520843	HEK293	kidney:	embryo
40	chr6:26520793-26520843	HRPEpiC	eye:	n/a
41	chr6:26520793-26520843	SK-N-SH_RA	brain:	n/a
42	chr6:26520793-26520843	A549	lung:	n/a
43	chr6:26520793-26520843	MCF-7	breast:	n/a
44	chr6:26520793-26520843	BJ	skin:	n/a
45	chr6:26520793-26520843	ProgFib	skin:	n/a
46	chr6:26520793-26520843	PFSK-1	brain:	n/a
47	chr6:26520793-26520843	U87	brain:	n/a
48	chr6:26520793-26520843	GM19239	blood:	n/a
49	chr6:26520793-26520843	BE2_C	brain:	n/a
50	chr6:26520793-26520843	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:26297237..26299588-chr6:26519952..26522018,2	K562	blood:
2	chr6:26383299..26384986-chr6:26520070..26522600,2	K562	blood:
3	chr6:26420252..26422779-chr6:26519711..26522673,2	K562	blood:
4	chr6:26198124..26199998-chr6:26520705..26522799,2	K562	blood:
5	chr6:26229652..26232354-chr6:26520028..26522000,2	K562	blood:
6	chr6:26517743..26520869-chr6:26521157..26524450,4	MCF-7	breast:
7	chr6:26157128..26159753-chr6:26519202..26521718,3	K562	blood:
8	chr6:26520764..26524239-chr6:26594606..26597481,4	K562	blood:
9	chr6:26234528..26236146-chr6:26520612..26523386,2	K562	blood:
10	chr6:26195075..26199998-chr6:26518402..26523264,7	K562	blood:
11	chr6:26518768..26523261-chr6:26527138..26531427,8	MCF-7	breast:
12	chr6:26319791..26322184-chr6:26520367..26521947,2	K562	blood:
13	chr6:26187831..26190328-chr6:26520761..26523308,3	K562	blood:
14	chr6:26122811..26125684-chr6:26519933..26522732,4	K562	blood:
15	chr6:26341603..26342500-chr6:26520725..26521500,3	K562	blood:
16	chr6:26321606..26324992-chr6:26518176..26520933,3	K562	blood:
17	chr6:26352176..26356420-chr6:26519489..26524545,4	K562	blood:
18	chr6:26520627..26522671-chr6:26536742..26539578,4	MCF-7	breast:
19	chr6:26248591..26251636-chr6:26519454..26522320,3	K562	blood:
20	chr6:26520458..26524632-chr6:26536427..26540091,8	MCF-7	breast:
21	chr6:26519250..26523737-chr6:27099178..27105777,8	K562	blood:
22	chr6:26457960..26461047-chr6:26519488..26522400,3	MCF-7	breast:
23	chr6:26420245..26422646-chr6:26519763..26522632,2	K562	blood:
24	chr6:26399787..26402548-chr6:26520304..26522588,2	K562	blood:
25	chr6:26215412..26219085-chr6:26518224..26524021,6	K562	blood:
26	chr6:26122246..26124996-chr6:26519353..26522732,3	K562	blood:
27	chr5:44809278..44810132-chr6:26520519..26521156,2	Hela-S3	cervix:
28	chr6:26187760..26190799-chr6:26518890..26523308,5	K562	blood:
29	chr1:228783557..228784071-chr6:26519913..26520856,2	Hela-S3	cervix:
30	chr6:26364672..26366648-chr6:26519902..26522691,2	K562	blood:
31	chr6:26360935..26366570-chr6:26520779..26523276,5	K562	blood:
32	chr6:26284286..26286997-chr6:26519588..26522057,2	K562	blood:
33	chr6:26520371..26522004-chr6:27113193..27114715,2	K562	blood:
34	chr6:26283829..26285786-chr6:26519588..26522507,3	K562	blood:
35	chr6:26440218..26442900-chr6:26520172..26522018,2	K562	blood:

Variant related genes	Relation type
HCG11	TF binding region
RNU6-502P	TF binding region
HCG11	CpG island
RNU6-502P	CpG island
ENSG00000220875	Chromatin interaction
ENSG00000186470	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000216331	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000256316	Chromatin interaction
ENSG00000124549	Chromatin interaction
ENSG00000124575	Chromatin interaction
ENSG00000261353	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000215979	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000252399	Chromatin interaction
ENSG00000026950	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000188987	Chromatin interaction
ENSG00000146109	Chromatin interaction
ENSG00000228223	Chromatin interaction
ENSG00000112996	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000111801	Chromatin interaction
ENSG00000182952	Chromatin interaction
ENSG00000158406	Chromatin interaction
ENSG00000124508	Chromatin interaction
ENSG00000212237	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000112763	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	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
4	nsv482836	chr6:26352883-26520964	Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv482407	chr6:26369320-26550148	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
6	esv3421845	chr6:26519998-26522546	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
7	esv3415199	chr6:26520373-26522371	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 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	chr6:26520400-26520800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
2	chr6:26520400-26520800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:26520400-26520800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:26520400-26520800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr6:26520400-26520800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr6:26520400-26520800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr6:26520400-26520800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr6:26520400-26520800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:26520400-26520800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:26520400-26520800	Flanking Active TSS	Aorta	Aorta
11	chr6:26520400-26520800	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr6:26520400-26520800	Flanking Active TSS	Brain Cingulate Gyrus	brain
13	chr6:26520400-26520800	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr6:26520400-26520800	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr6:26520400-26520800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr6:26520400-26520800	Flanking Active TSS	Colon Smooth Muscle	Colon
17	chr6:26520400-26520800	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr6:26520400-26520800	Active TSS	Fetal Brain Male	brain
19	chr6:26520400-26520800	Flanking Active TSS	Fetal Kidney	kidney
20	chr6:26520400-26520800	Flanking Active TSS	Rectal Smooth Muscle	rectum
21	chr6:26520400-26520800	Enhancers	Right Ventricle	heart
22	chr6:26520400-26520800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr6:26520400-26520800	Flanking Active TSS	Thymus	Thymus
24	chr6:26520400-26520800	Enhancers	HUVEC	blood vessel
25	chr6:26520400-26520800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr6:26520400-26521000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr6:26520400-26521000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr6:26520400-26521000	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr6:26520400-26521000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr6:26520400-26521000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr6:26520400-26521000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:26520400-26521000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr6:26520400-26521000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr6:26520400-26521000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:26520400-26521000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:26520400-26521000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:26520400-26521000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr6:26520400-26521000	Flanking Active TSS	A549	lung
39	chr6:26520400-26521000	Flanking Active TSS	Dnd41	blood
40	chr6:26520400-26521000	Flanking Active TSS	GM12878-XiMat	blood
41	chr6:26520400-26521000	Flanking Active TSS	Hela-S3	cervix
42	chr6:26520400-26521000	Flanking Active TSS	HepG2	liver
43	chr6:26520400-26521000	Flanking Active TSS	HMEC	breast
44	chr6:26520400-26521000	Flanking Active TSS	K562	blood
45	chr6:26520400-26521000	Flanking Active TSS	NHEK	skin
46	chr6:26520400-26521000	Flanking Active TSS	Osteobl	bone
47	chr6:26520400-26521600	Active TSS	Liver	Liver
48	chr6:26520400-26522400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:26520400-26522800	Active TSS	Brain Angular Gyrus	brain
50	chr6:26520400-26522800	Active TSS	Fetal Lung	lung

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