Variant report

Variant	rs75573053
Chromosome Location	chr6:133136087-133136088
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:240)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:240 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr6:133135143-133136914	K562	blood:	n/a	n/a
2	TCF12	chr6:133134391-133136145	A549	lung:	n/a	n/a
3	POLR2A	chr6:133135039-133136794	GM12878	blood:	n/a	n/a
4	POLR2A	chr6:133133973-133142719	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr6:133134002-133136170	HCT-116	colon:	n/a	n/a
6	POLR2A	chr6:133135088-133136727	SK-N-SH	brain:	n/a	n/a
7	SIN3AK20	chr6:133135924-133136157	A549	lung:	n/a	n/a
8	WRNIP1	chr6:133135124-133136519	GM12878	blood:	n/a	n/a
9	NFIC	chr6:133135035-133136093	HepG2	liver:	n/a	n/a
10	USF2	chr6:133135661-133136557	K562	blood:	n/a	n/a
11	POLR2A	chr6:133135032-133137592	HCT-116	colon:	n/a	n/a
12	TEAD4	chr6:133135032-133136666	K562	blood:	n/a	n/a
13	TAF1	chr6:133134632-133136152	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr6:133134162-133138350	GM12892	blood:	n/a	n/a
15	POLR2A	chr6:133135005-133136562	HepG2	liver:	n/a	n/a
16	POLR2A	chr6:133133509-133142958	HepG2	liver:	n/a	n/a
17	POLR2A	chr6:133134992-133136843	K562	blood:	n/a	n/a
18	STAT5A	chr6:133134219-133136486	GM12878	blood:	n/a	chr6:133134283-133134294 chr6:133134277-133134288 chr6:133135591-133135602 chr6:133134635-133134644 chr6:133134636-133134645
19	POLR2A	chr6:133135043-133136381	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:133134236-133136890	MCF-7	breast:	n/a	n/a
21	MXI1	chr6:133135103-133136685	IMR90	lung:	n/a	n/a
22	POLR2A	chr6:133135037-133136507	GM12891	blood:	n/a	n/a
23	PML	chr6:133135217-133136112	GM12878	blood:	n/a	n/a
24	MYC	chr6:133133521-133138056	K562	blood:	n/a	chr6:133134081-133134091 chr6:133135767-133135777
25	POLR2A	chr6:133134007-133138262	GM15510	blood:	n/a	n/a
26	POLR2A	chr6:133134121-133142902	PFSK-1	brain:	n/a	n/a
27	MAX	chr6:133135072-133136266	GM12878	blood:	n/a	chr6:133135767-133135777
28	HA-E2F1	chr6:133134284-133136173	MCF-7	breast:	n/a	chr6:133134503-133134510 chr6:133134605-133134614 chr6:133135649-133135658
29	POLR2A	chr6:133135219-133144621	HepG2	liver:	n/a	n/a
30	GATA3	chr6:133136016-133136318	T-47D	breast:	n/a	n/a
31	POLR2A	chr6:133135104-133136794	K562	blood:	n/a	n/a
32	POLR2A	chr6:133135075-133142824	K562	blood:	n/a	n/a
33	MTA3	chr6:133133767-133137277	GM12878	blood:	n/a	n/a
34	POLR2A	chr6:133134120-133142624	GM18505	blood:	n/a	n/a
35	POLR2A	chr6:133135033-133136366	GM12878	blood:	n/a	n/a
36	POLR2A	chr6:133134787-133136856	PANC-1	pancreas:	n/a	n/a
37	RELA	chr6:133133625-133136264	GM10847	blood:	n/a	n/a
38	BCLAF1	chr6:133135109-133136572	GM12878	blood:	n/a	n/a
39	TAF7	chr6:133134418-133138128	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr6:133133442-133144695	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr6:133133522-133142994	GM12891	blood:	n/a	n/a
42	POLR2A	chr6:133134246-133136628	K562	blood:	n/a	n/a
43	POLR2A	chr6:133135098-133136635	GM12891	blood:	n/a	n/a
44	CHD2	chr6:133135154-133136787	K562	blood:	n/a	n/a
45	RELA	chr6:133133917-133136548	GM12891	blood:	n/a	n/a
46	BCL3	chr6:133135109-133136146	A549	lung:	n/a	n/a
47	SIN3A	chr6:133135121-133136437	GM12878	blood:	n/a	chr6:133135767-133135778
48	MAX	chr6:133135060-133136459	ECC-1	luminal epithelium:	n/a	chr6:133135767-133135777
49	MAX	chr6:133134228-133136485	HCT-116	colon:	n/a	chr6:133135767-133135777
50	POLR2A	chr6:133135035-133138163	U87	brain:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:77656072..77656696-chr6:133135247..133136163,2	Hela-S3	cervix:
2	chr1:94146402..94147127-chr6:133135595..133136405,2	Hela-S3	cervix:
3	chr11:122932373..122933017-chr6:133135657..133136205,2	Hela-S3	cervix:
4	chr6:133084942..133087324-chr6:133134860..133137280,2	MCF-7	breast:
5	chr20:52224699..52226307-chr6:133135521..133137429,2	MCF-7	breast:
6	chr14:69259781..69261291-chr6:133134489..133136848,2	MCF-7	breast:
7	chr19:1478974..1479621-chr6:133135658..133136245,2	Hela-S3	cervix:
8	chr1:150039196..150039749-chr6:133135355..133136176,2	Hela-S3	cervix:
9	chr6:133135261..133136170-chr7:7680235..7681119,2	Hela-S3	cervix:
10	chr6:132832429..132834669-chr6:133134284..133137002,3	K562	blood:
11	chr17:79479507..79480059-chr6:133135411..133136304,2	HCT-116	colon:
12	chr6:133135551..133136205-chrX:117479469..117480079,2	Hela-S3	cervix:
13	chr6:133135224..133137195-chr7:86974442..86977103,2	MCF-7	breast:
14	chr1:853806..855355-chr6:133134480..133137289,2	MCF-7	breast:
15	chr6:132855902..132859597-chr6:133135974..133139810,3	K562	blood:
16	chr6:133084415..133087080-chr6:133134762..133137402,2	MCF-7	breast:
17	chr6:133118544..133124606-chr6:133132137..133138834,13	MCF-7	breast:
18	chr19:2163733..2164433-chr6:133135620..133136388,2	HCT-116	colon:
19	chr6:133135683..133136351-chr9:130547259..130548177,2	Hela-S3	cervix:
20	chr6:133134320..133137127-chr6:136569335..136571574,2	K562	blood:
21	chr6:132833194..132835178-chr6:133134140..133136704,2	MCF-7	breast:
22	chr6:133135604..133137467-chr6:144606007..144608305,2	K562	blood:
23	chr17:73083843..73084453-chr6:133135605..133136113,2	Hela-S3	cervix:
24	chr6:133117688..133126502-chr6:133133829..133139054,19	MCF-7	breast:
25	chr1:159894871..159895411-chr6:133135389..133136277,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
SNORD100	TF binding region
SNORA33	TF binding region
SNORD101	TF binding region
ENSG00000137936	Chromatin interaction
ENSG00000182165	Chromatin interaction
ENSG00000085365	Chromatin interaction
ENSG00000158710	Chromatin interaction
ENSG00000106399	Chromatin interaction
ENSG00000235415	Chromatin interaction
ENSG00000223764	Chromatin interaction
ENSG00000184009	Chromatin interaction
ENSG00000109971	Chromatin interaction
ENSG00000131725	Chromatin interaction
ENSG00000119559	Chromatin interaction
ENSG00000079950	Chromatin interaction
ENSG00000237110	Chromatin interaction
ENSG00000136807	Chromatin interaction
ENSG00000185650	Chromatin interaction
ENSG00000005469	Chromatin interaction
ENSG00000112303	Chromatin interaction
ENSG00000266070	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000104885	Chromatin interaction
ENSG00000245556	Chromatin interaction
ENSG00000219545	Chromatin interaction
ENSG00000146409	Chromatin interaction
ENSG00000170190	Chromatin interaction
ENSG00000152818	Chromatin interaction
ENSG00000271488	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000146410	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv886676	chr6:133111706-133168582	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	esv1806734	chr6:133125643-133168582	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
5	nsv970166	chr6:133135836-133136464	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	43 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	chr6:133133400-133136200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:133133400-133136200	Active TSS	NHDF-Ad	bronchial
3	chr6:133133400-133136400	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr6:133133600-133136200	Active TSS	Brain Substantia Nigra	brain
5	chr6:133133600-133136400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
6	chr6:133133600-133136400	Active TSS	Brain Angular Gyrus	brain
7	chr6:133133600-133136400	Active TSS	Brain Anterior Caudate	brain
8	chr6:133133600-133136600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:133133600-133136600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:133133600-133136800	Active TSS	Brain Cingulate Gyrus	brain
11	chr6:133133600-133137000	Active TSS	Aorta	Aorta
12	chr6:133133600-133137000	Active TSS	Fetal Intestine Small	intestine
13	chr6:133133600-133137000	Active TSS	Ovary	ovary
14	chr6:133133600-133137000	Active TSS	Thymus	Thymus
15	chr6:133133600-133137200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr6:133133600-133137200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:133133600-133137200	Active TSS	Colonic Mucosa	Colon
18	chr6:133133800-133136200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:133133800-133136200	Active TSS	Stomach Smooth Muscle	stomach
20	chr6:133133800-133136400	Active TSS	Fetal Thymus	thymus
21	chr6:133133800-133136600	Active TSS	Colon Smooth Muscle	Colon
22	chr6:133133800-133136600	Active TSS	Small Intestine	intestine
23	chr6:133133800-133136800	Active TSS	Fetal Muscle Trunk	muscle
24	chr6:133133800-133136800	Active TSS	Placenta	Placenta
25	chr6:133133800-133136800	Active TSS	Fetal Stomach	stomach
26	chr6:133133800-133137000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:133133800-133137000	Active TSS	Fetal Intestine Large	intestine
28	chr6:133133800-133137000	Active TSS	Right Ventricle	heart
29	chr6:133133800-133137000	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr6:133133800-133137000	Active TSS	Stomach Mucosa	stomach
31	chr6:133133800-133137200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:133134000-133136200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:133134000-133136200	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr6:133134000-133136200	Active TSS	Primary B cells from peripheral blood	blood
35	chr6:133134000-133136200	Active TSS	Primary T cells from cord blood	blood
36	chr6:133134000-133136200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:133134000-133136200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:133134000-133136200	Active TSS	Liver	Liver
39	chr6:133134000-133136200	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr6:133134000-133136200	Active TSS	A549	lung
41	chr6:133134000-133136200	Active TSS	GM12878-XiMat	blood
42	chr6:133134000-133136200	Active TSS	HSMM	muscle
43	chr6:133134000-133136200	Active TSS	NHLF	lung
44	chr6:133134000-133136400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:133134000-133136400	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr6:133134000-133136400	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr6:133134000-133136400	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr6:133134000-133136400	Active TSS	Spleen	Spleen
49	chr6:133134000-133136600	ZNF genes & repeats	Fetal Brain Male	brain
50	chr6:133134000-133136800	Active TSS	Fetal Kidney	kidney

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