Variant report

Variant	rs555381286
Chromosome Location	chr6:24720636-24720637
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	BCL3	chr6:24720199-24720666	A549	lung:	n/a	chr6:24720401-24720410 chr6:24720470-24720483 chr6:24720402-24720411 chr6:24720596-24720609
2	POU2F2	chr6:24720332-24720646	GM12878	blood:	n/a	n/a
3	RCOR1	chr6:24720378-24722426	GM12878	blood:	n/a	n/a
4	REST	chr6:24720290-24721331	HL-60	blood:	n/a	n/a
5	NFATC1	chr6:24720298-24722239	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:24720466-24722160	HEK293	kidney:	n/a	n/a
7	POLR2A	chr6:24719540-24722490	NB4	blood:	n/a	n/a
8	MAZ	chr6:24719873-24722157	Hela-S3	cervix:	n/a	chr6:24721856-24721863 chr6:24720992-24721002 chr6:24721851-24721866 chr6:24721855-24721864 chr6:24721855-24721864
9	POLR2A	chr6:24720285-24721247	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr6:24720320-24722058	H1-hESC	embryonic stem cell:	n/a	chr6:24721471-24721481
11	POLR2A	chr6:24720400-24720689	U87	brain:	n/a	n/a
12	TAF1	chr6:24720417-24722118	ECC-1	luminal epithelium:	n/a	n/a
13	ETS1	chr6:24720317-24720750	K562	blood:	n/a	n/a
14	HEY1	chr6:24718714-24721326	K562	blood:	n/a	chr6:24720627-24720642
15	CEBPD	chr6:24720292-24722191	K562	blood:	n/a	n/a
16	POLR2A	chr6:24720241-24721219	GM12878	blood:	n/a	n/a
17	TCF12	chr6:24720535-24722285	A549	lung:	n/a	chr6:24721784-24721791
18	SMC3	chr6:24720379-24722082	Hela-S3	cervix:	n/a	chr6:24720650-24720660
19	POLR2A	chr6:24720256-24722275	Hela-S3	cervix:	n/a	n/a
20	BHLHE40	chr6:24720460-24722377	K562	blood:	n/a	chr6:24720625-24720641 chr6:24720633-24720649 chr6:24721097-24721113
21	YY1	chr6:24720401-24722056	ECC-1	luminal epithelium:	n/a	chr6:24721092-24721102 chr6:24720994-24721003 chr6:24720789-24720798
22	POLR2A	chr6:24717288-24722666	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr6:24720241-24722389	SK-N-SH	brain:	n/a	n/a
24	EGR1	chr6:24720347-24720669	K562	blood:	n/a	chr6:24720498-24720512 chr6:24720516-24720530
25	YY1	chr6:24720373-24722142	HepG2	liver:	n/a	chr6:24722106-24722122 chr6:24721092-24721102 chr6:24720994-24721003 chr6:24720789-24720798
26	USF2	chr6:24720555-24722212	GM12878	blood:	n/a	chr6:24720625-24720641 chr6:24720633-24720649 chr6:24721097-24721113
27	TBP	chr6:24720403-24722236	H1-hESC	embryonic stem cell:	n/a	n/a
28	TAF1	chr6:24720348-24722095	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr6:24719329-24722375	ProgFib	skin:	n/a	n/a
30	POLR2A	chr6:24720356-24720726	A549	lung:	n/a	n/a
31	POLR2A	chr6:24720264-24720742	A549	lung:	n/a	n/a
32	POLR2A	chr6:24718468-24721182	A549	lung:	n/a	n/a
33	CTCF	chr6:24720560-24720710	GM12873	blood:	n/a	chr6:24720647-24720660
34	POLR2A	chr6:24719230-24722689	GM19193	blood:	n/a	n/a
35	POLR2A	chr6:24719246-24722397	GM19099	blood:	n/a	n/a
36	POLR2A	chr6:24720245-24721259	GM12878	blood:	n/a	n/a
37	POLR2A	chr6:24720238-24721308	ECC-1	luminal epithelium:	n/a	n/a
38	CREB1	chr6:24720630-24720831	A549	lung:	n/a	n/a
39	MAX	chr6:24720341-24722223	ECC-1	luminal epithelium:	n/a	chr6:24721856-24721863 chr6:24720992-24721002 chr6:24721851-24721866 chr6:24721855-24721864 chr6:24721855-24721864
40	MAX	chr6:24720332-24722202	K562	blood:	n/a	chr6:24721856-24721863 chr6:24720992-24721002 chr6:24721851-24721866 chr6:24721855-24721864 chr6:24721855-24721864
41	POLR2A	chr6:24718890-24721200	Hela-S3	cervix:	n/a	n/a
42	FOXA1	chr6:24720337-24721278	HepG2	liver:	n/a	n/a
43	YY1	chr6:24720255-24722215	GM12892	blood:	n/a	chr6:24722106-24722122 chr6:24721092-24721102 chr6:24720994-24721003 chr6:24720789-24720798
44	POLR2A	chr6:24720247-24721279	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr6:24719425-24721273	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr6:24720307-24720694	HepG2	liver:	n/a	n/a
47	TAF1	chr6:24720567-24722149	PFSK-1	brain:	n/a	n/a
48	TAF1	chr6:24720477-24720812	GM12878	blood:	n/a	n/a
49	MAX	chr6:24720243-24722330	HepG2	liver:	n/a	chr6:24721856-24721863 chr6:24720992-24721002 chr6:24721851-24721866 chr6:24721855-24721864 chr6:24721855-24721864
50	YY1	chr6:24720276-24722233	SK-N-SH	brain:	n/a	chr6:24722106-24722122 chr6:24721092-24721102 chr6:24720994-24721003 chr6:24720789-24720798

No.	Distal block	Cell Line	Cell type
1	chr1:117602549..117603342-chr6:24720361..24721151,2	Hela-S3	cervix:
2	chr15:22832998..22833888-chr6:24720600..24721120,2	Hela-S3	cervix:
3	chr10:74856143..74856681-chr6:24720587..24721485,2	HCT-116	colon:
4	chr6:24711892..24724164-chr6:24769415..24786834,81	K562	blood:
5	chr6:24719858..24721554-chr6:25106494..25110308,3	MCF-7	breast:
6	chr6:24719506..24722494-chr6:24741132..24743826,4	K562	blood:
7	chr11:82996932..82997497-chr6:24720214..24721050,2	Hela-S3	cervix:
8	chr6:24719119..24721965-chr6:26020764..26023234,2	MCF-7	breast:
9	chr6:24657655..24659922-chr6:24720349..24722391,2	K562	blood:
10	chr6:24715365..24725462-chr6:24770390..24783002,86	K562	blood:
11	chr10:102822040..102823090-chr6:24720609..24721522,3	Hela-S3	cervix:
12	chr6:24719711..24722073-chr6:24797818..24801450,3	K562	blood:
13	chr4:129730688..129731418-chr6:24720530..24721134,2	Hela-S3	cervix:
14	chr15:89877635..89878185-chr6:24720350..24720905,2	HCT-116	colon:
15	chr6:24716219..24722234-chr6:24748111..24753033,8	K562	blood:
16	chr6:24718870..24722603-chr6:26025035..26028594,6	K562	blood:
17	chr12:57913817..57914668-chr6:24720612..24721518,2	MCF-7	breast:
18	chr17:7387539..7388163-chr6:24720560..24721067,2	Hela-S3	cervix:
19	chr6:24696748..24707740-chr6:24716503..24724189,24	MCF-7	breast:
20	chr5:36241334..36243447-chr6:24720553..24722359,2	K562	blood:
21	chr6:24644992..24647314-chr6:24719656..24721157,2	MCF-7	breast:
22	chr6:24720594..24721143-chrX:16804209..16804747,2	Hela-S3	cervix:
23	chr6:24494955..24497307-chr6:24719219..24721474,2	MCF-7	breast:
24	chr6:24493014..24496474-chr6:24718971..24722650,4	K562	blood:
25	chr6:24718549..24722818-chr6:24771512..24777723,8	MCF-7	breast:
26	chr6:24661385..24670379-chr6:24713871..24722680,32	K562	blood:
27	chr6:24720585..24722124-chr7:7679223..7680620,4	Hela-S3	cervix:
28	chr6:24720510..24721203-chr7:157129013..157129921,2	Hela-S3	cervix:
29	chr6:24720507..24721060-chr6:30584580..30585315,2	Hela-S3	cervix:
30	chr6:24719968..24721731-chr6:26234799..26237042,2	K562	blood:
31	chr15:83478214..83478879-chr6:24720555..24721193,2	Hela-S3	cervix:
32	chr11:71823331..71823910-chr6:24720361..24721080,2	Hela-S3	cervix:
33	chr6:24717870..24723661-chr6:24773711..24778808,16	MCF-7	breast:
34	chr6:24720530..24721205-chrX:40594623..40595592,2	Hela-S3	cervix:
35	chr6:24660920..24672880-chr6:24713381..24723000,42	K562	blood:
36	chr6:24720555..24721055-chrX:47517927..47518652,2	Hela-S3	cervix:
37	chr12:93835218..93835818-chr6:24720128..24720890,2	NB4	blood:
38	chr6:24719766..24721631-chr8:99304778..99307612,2	MCF-7	breast:
39	chr6:24665745..24668755-chr6:24718443..24722281,4	MCF-7	breast:
40	chr14:53416668..53418435-chr6:24720286..24722655,2	MCF-7	breast:
41	chr6:20401095..20405762-chr6:24718847..24722714,7	K562	blood:
42	chr6:20400126..20404982-chr6:24718144..24722714,11	K562	blood:
43	chr6:24666041..24667769-chr6:24719597..24721263,2	MCF-7	breast:
44	chr17:8076344..8077165-chr6:24720254..24721231,2	Hela-S3	cervix:
45	chr12:57039267..57039827-chr6:24720314..24721063,2	Hela-S3	cervix:
46	chr6:24719372..24721476-chr6:26021686..26024000,3	K562	blood:
47	chr6:24719452..24722494-chr6:24742032..24745228,7	K562	blood:
48	chr10:116581424..116582241-chr6:24720620..24721196,2	Hela-S3	cervix:
49	chr6:24492199..24495699-chr6:24718792..24721987,5	K562	blood:

Variant related genes	Relation type
C6orf62	TF binding region
ENSG00000137500	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000104361	Chromatin interaction
ENSG00000174282	Chromatin interaction
ENSG00000137261	Chromatin interaction
ENSG00000073712	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000110200	Chromatin interaction
ENSG00000180182	Chromatin interaction
ENSG00000156232	Chromatin interaction
ENSG00000140521	Chromatin interaction
ENSG00000181222	Chromatin interaction
ENSG00000218806	Chromatin interaction
ENSG00000267064	Chromatin interaction
ENSG00000260286	Chromatin interaction
ENSG00000272402	Chromatin interaction
ENSG00000234636	Chromatin interaction
ENSG00000153575	Chromatin interaction
ENSG00000112304	Chromatin interaction
ENSG00000255234	Chromatin interaction
ENSG00000124575	Chromatin interaction
ENSG00000168405	Chromatin interaction
ENSG00000112293	Chromatin interaction
ENSG00000111802	Chromatin interaction
ENSG00000107821	Chromatin interaction
ENSG00000077684	Chromatin interaction
ENSG00000151553	Chromatin interaction
ENSG00000122884	Chromatin interaction
ENSG00000177889	Chromatin interaction
ENSG00000112294	Chromatin interaction
ENSG00000105993	Chromatin interaction
ENSG00000219545	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000224164	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000086712	Chromatin interaction
ENSG00000200463	Chromatin interaction
ENSG00000106399	Chromatin interaction
ENSG00000272345	Chromatin interaction
ENSG00000110955	Chromatin interaction
ENSG00000126756	Chromatin interaction
ENSG00000112312	Chromatin interaction
ENSG00000116830	Chromatin interaction
ENSG00000112242	Chromatin interaction
ENSG00000152620	Chromatin interaction
ENSG00000166987	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	esv3508002	chr6:24618580-24732946	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv3508003	chr6:24618580-24732946	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv830609	chr6:24712086-24896647	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
4	nsv428474	chr6:24714157-24797977	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	esv3423914	chr6:24719198-24721746	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	63 gene(s)	inside rSNPs	diseases
6	esv3527679	chr6:24719323-24721621	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	62 gene(s)	inside rSNPs	diseases
7	esv3527680	chr6:24719323-24721621	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	62 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	chr6:24716400-24722400	Active TSS	Ovary	ovary
2	chr6:24716600-24720800	Active TSS	Aorta	Aorta
3	chr6:24716600-24722000	Active TSS	Stomach Mucosa	stomach
4	chr6:24716600-24722400	Active TSS	Right Ventricle	heart
5	chr6:24716800-24722400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:24716800-24722600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr6:24717000-24721800	Active TSS	NH-A	brain
8	chr6:24717000-24722200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:24717000-24722400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:24717000-24722400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:24717000-24722400	Active TSS	Brain Angular Gyrus	brain
12	chr6:24717000-24722600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr6:24717400-24722200	Active TSS	Fetal Intestine Large	intestine
14	chr6:24717600-24722000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:24717600-24722200	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr6:24717600-24722200	Active TSS	HSMMtube	muscle
17	chr6:24717800-24722000	Active TSS	Fetal Intestine Small	intestine
18	chr6:24717800-24722000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr6:24717800-24722000	Active TSS	NHLF	lung
20	chr6:24717800-24722200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:24717800-24722400	Active TSS	H1 Cell Line	embryonic stem cell
22	chr6:24717800-24722400	Active TSS	Psoas Muscle	Psoas
23	chr6:24717800-24722400	Active TSS	Thymus	Thymus
24	chr6:24718000-24722000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr6:24718000-24722200	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr6:24718000-24722400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr6:24718000-24722400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:24718000-24722600	Active TSS	Stomach Smooth Muscle	stomach
29	chr6:24718200-24722000	Active TSS	Placenta	Placenta
30	chr6:24718200-24722200	Active TSS	A549	lung
31	chr6:24718200-24722400	Active TSS	Brain Anterior Caudate	brain
32	chr6:24718400-24721800	Active TSS	Hela-S3	cervix
33	chr6:24718400-24722000	Active TSS	Small Intestine	intestine
34	chr6:24718400-24722200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:24718400-24722200	Active TSS	Left Ventricle	heart
36	chr6:24718400-24722200	Active TSS	Lung	lung
37	chr6:24718400-24722200	Active TSS	Placenta Amnion	Placenta Amnion
38	chr6:24718400-24722400	Active TSS	H9 Cell Line	embryonic stem cell
39	chr6:24718600-24722000	Active TSS	Fetal Muscle Trunk	muscle
40	chr6:24718600-24722000	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr6:24718600-24722000	Active TSS	HSMM	muscle
42	chr6:24718600-24722200	Active TSS	Brain Substantia Nigra	brain
43	chr6:24718800-24722000	Active TSS	Pancreas	Pancrea
44	chr6:24718800-24722200	Active TSS	Colonic Mucosa	Colon
45	chr6:24718800-24722600	Active TSS	NHDF-Ad	bronchial
46	chr6:24719000-24722000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:24719000-24722000	Active TSS	Duodenum Mucosa	Duodenum
48	chr6:24719000-24722400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr6:24719200-24722000	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr6:24719200-24722000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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