Variant report

Variant	rs372092120
Chromosome Location	chr6:128842421-128842422
allele	-/CTCAC
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	POLR2A	chr6:128842247-128842442	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr6:128841319-128842741	SK-N-SH	brain:	n/a	n/a
3	FOS	chr6:128842019-128842782	HUVEC	blood vessel:	n/a	chr6:128842574-128842585
4	NFIC	chr6:128842012-128842721	ECC-1	luminal epithelium:	n/a	n/a
5	RAD21	chr6:128841460-128842800	Hela-S3	cervix:	n/a	chr6:128841979-128841991 chr6:128841929-128841943
6	KAP1	chr6:128841870-128842671	U2OS	brain:	n/a	chr6:128842058-128842066
7	TCF12	chr6:128839932-128842908	SK-N-SH	brain:	n/a	chr6:128842311-128842318
8	POLR2A	chr6:128841272-128842727	U87	brain:	n/a	n/a
9	POLR2A	chr6:128839590-128842584	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr6:128839641-128842717	HepG2	liver:	n/a	n/a
11	SIN3AK20	chr6:128839549-128842729	MCF-7	breast:	n/a	n/a
12	MAX	chr6:128840085-128842519	MCF-7	breast:	n/a	chr6:128841389-128841399
13	FOS	chr6:128842240-128842750	MCF10A-Er-Src	breast:	n/a	chr6:128842574-128842585
14	STAT3	chr6:128842298-128842737	MCF10A-Er-Src	breast:	n/a	chr6:128842576-128842585 chr6:128842575-128842584
15	FOS	chr6:128842295-128842750	MCF10A-Er-Src	breast:	n/a	chr6:128842574-128842585
16	PBX3	chr6:128841469-128842812	SK-N-SH	brain:	n/a	n/a
17	CEBPB	chr6:128841383-128842816	Hela-S3	cervix:	n/a	chr6:128842683-128842695
18	POLR2A	chr6:128841413-128842740	SK-N-SH	brain:	n/a	n/a
19	MYBL2	chr6:128841077-128842535	HepG2	liver:	n/a	n/a
20	POLR2A	chr6:128841278-128842689	U87	brain:	n/a	n/a
21	RAD21	chr6:128841286-128842486	H1-hESC	embryonic stem cell:	n/a	chr6:128841979-128841991 chr6:128841929-128841943
22	MXI1	chr6:128839589-128842941	IMR90	lung:	n/a	n/a
23	POLR2A	chr6:128840603-128842486	Hela-S3	cervix:	n/a	n/a
24	RCOR1	chr6:128839770-128842542	Hela-S3	cervix:	n/a	n/a
25	SMC3	chr6:128840095-128842611	Hela-S3	cervix:	n/a	chr6:128841851-128841861
26	TEAD4	chr6:128841557-128842565	ECC-1	luminal epithelium:	n/a	n/a
27	TCF7L2	chr6:128840753-128842468	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr6:128840737-128842988	MCF10A-Er-Src	breast:	n/a	n/a
29	CHD2	chr6:128840796-128842445	Hela-S3	cervix:	n/a	n/a
30	KAP1	chr6:128840787-128842750	HEK293	kidney:	n/a	chr6:128842058-128842066
31	POLR2A	chr6:128840089-128842472	H1-hESC	embryonic stem cell:	n/a	n/a
32	MBD4	chr6:128841824-128842535	HepG2	liver:	n/a	n/a
33	RAD21	chr6:128839704-128842769	IMR90	lung:	n/a	chr6:128841979-128841991 chr6:128841149-128841158 chr6:128841929-128841943
34	PBX3	chr6:128841323-128842978	SK-N-SH	brain:	n/a	n/a
35	TEAD4	chr6:128841379-128842546	SK-N-SH	brain:	n/a	n/a
36	MYC	chr6:128842283-128842700	MCF10A-Er-Src	breast:	n/a	n/a
37	TCF12	chr6:128842009-128842619	ECC-1	luminal epithelium:	n/a	chr6:128842311-128842318
38	POLR2A	chr6:128840204-128842666	IMR90	lung:	n/a	n/a
39	POLR2A	chr6:128841438-128842629	U87	brain:	n/a	n/a
40	POLR2A	chr6:128840058-128842443	Hela-S3	cervix:	n/a	n/a
41	MYC	chr6:128841377-128842797	MCF10A-Er-Src	breast:	n/a	chr6:128841389-128841399
42	POLR2A	chr6:128841457-128842524	H1-neurons	neurons:	n/a	n/a
43	CTCF	chr6:128841077-128842427	SK-N-SH	brain:	n/a	chr6:128841849-128841867 chr6:128841150-128841158 chr6:128841851-128841864
44	EP300	chr6:128841135-128842584	ECC-1	luminal epithelium:	n/a	chr6:128841695-128841711 chr6:128841924-128841940 chr6:128841840-128841849 chr6:128841692-128841708
45	TCF12	chr6:128841847-128842654	A549	lung:	n/a	chr6:128842311-128842318
46	POLR2A	chr6:128841216-128842568	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr6:128840252-128842716	HUVEC	blood vessel:	n/a	n/a
48	TAF1	chr6:128842302-128842493	SK-N-SH	brain:	n/a	n/a
49	TBP	chr6:128840118-128842492	HepG2	liver:	n/a	n/a
50	CTCF	chr6:128841124-128842448	A549	lung:	n/a	chr6:128841849-128841867 chr6:128841150-128841158 chr6:128841851-128841864

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:128842405-128842455	GM12892	blood:	n/a
2	chr6:128842405-128842455	HCT-116	colon:	n/a
3	chr6:128842405-128842455	GM19239	blood:	n/a
4	chr6:128842405-128842455	ovcar-3	ovarian:	n/a
5	chr6:128842405-128842455	HPAEpiC	pulmonary alveolar:	n/a
6	chr6:128842405-128842455	GM06990	blood:	n/a
7	chr6:128842405-128842455	HNPCEpiC	eye:	n/a
8	chr6:128842405-128842455	MCF10A-Er-Src	breast:	n/a
9	chr6:128842405-128842455	Jurkat	blood:	n/a
10	chr6:128842405-128842455	SKMC	muscle:	n/a
11	chr6:128842405-128842455	BJ	skin:	n/a
12	chr6:128842405-128842455	BE2_C	brain:	n/a
13	chr6:128842405-128842455	RPTEC	kidney:	n/a
14	chr6:128842405-128842455	AG10803	skin:	n/a
15	chr6:128842405-128842455	HRE	kidney:	n/a
16	chr6:128842405-128842455	HCM	heart:	n/a
17	chr6:128842405-128842455	A549	lung:	n/a
18	chr6:128842405-128842455	SK-N-SH	brain:	n/a
19	chr6:128842405-128842455	SK-N-SH_RA	brain:	n/a
20	chr6:128842405-128842455	IMR90	lung:	fetal
21	chr6:128842405-128842455	HAEpiC	amniotic membrane:	n/a
22	chr6:128842405-128842455	U87	brain:	n/a
23	chr6:128842405-128842455	MCF-7	breast:	n/a
24	chr6:128842405-128842455	HRCEpiC	kidney:	n/a
25	chr6:128842405-128842455	NH-A	brain:	n/a
26	chr6:128842405-128842455	GM12878	blood:	n/a
27	chr6:128842405-128842455	Hepatocyte	liver:	n/a
28	chr6:128842405-128842455	Hela-S3	cervix:	n/a
29	chr6:128842405-128842455	HMEC	breast:	n/a
30	chr6:128842405-128842455	NHDF-neo	bronchial:	n/a
31	chr6:128842405-128842455	Caco-2	colon:	n/a
32	chr6:128842405-128842455	HCF	heart:	n/a
33	chr6:128842405-128842455	NB4	blood:	n/a
34	chr6:128842405-128842455	HL-60	blood:	n/a
35	chr6:128842405-128842455	LNCaP	prostate:	n/a
36	chr6:128842405-128842455	ProgFib	skin:	n/a
37	chr6:128842405-128842455	HRPEpiC	eye:	n/a
38	chr6:128842405-128842455	AoSMC	blood vessel:	n/a
39	chr6:128842405-128842455	NHBE	bronchial:	n/a
40	chr6:128842405-128842455	HepG2	liver:	n/a
41	chr6:128842405-128842455	PANC-1	pancreas:	n/a
42	chr6:128842405-128842455	T-47D	breast:	n/a
43	chr6:128842405-128842455	HEEpiC	esophagus:	n/a
44	chr6:128842405-128842455	PrEC	prostate:	n/a
45	chr6:128842405-128842455	AG09319	gingival:	n/a
46	chr6:128842405-128842455	SK-N-MC	brain:	n/a
47	chr6:128842405-128842455	H1-hESC	embryonic stem cell:	embryo
48	chr6:128842405-128842455	HCPEpiC	choroid plexus:	n/a
49	chr6:128842405-128842455	HEK293	kidney:	embryo
50	chr6:128842405-128842455	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:128529927..128532522-chr6:128841893..128843396,2	MCF-7	breast:
2	chr6:128666022..128668619-chr6:128842327..128844085,2	MCF-7	breast:
3	chr16:75143191..75144858-chr6:128840309..128843134,2	MCF-7	breast:
4	chr6:128819294..128822394-chr6:128840492..128843286,6	MCF-7	breast:
5	chr6:128817983..128822479-chr6:128839649..128843314,6	MCF-7	breast:

Variant related genes	Relation type
PTPRK	TF binding region
PTPRK	CpG island
ENSG00000224733	Chromatin interaction
ENSG00000247033	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	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 target site	8 gene(s)	inside rSNPs	diseases
3	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv830800	chr6:128710631-128878435	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2758078	chr6:128842192-128844831	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv2759468	chr6:128842192-128844831	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128837200-128842800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr6:128838400-128843000	Active TSS	Fetal Brain Male	brain
3	chr6:128838600-128842600	Active TSS	Brain Hippocampus Middle	brain
4	chr6:128838600-128842600	Active TSS	Fetal Intestine Large	intestine
5	chr6:128838600-128842800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:128838600-128842800	Active TSS	Brain Angular Gyrus	brain
7	chr6:128838800-128842600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:128838800-128842800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:128838800-128842800	Active TSS	Stomach Smooth Muscle	stomach
10	chr6:128839200-128842800	Active TSS	Right Atrium	heart
11	chr6:128839400-128842600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr6:128839400-128842600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr6:128839400-128842600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:128839400-128842600	Active TSS	Brain Anterior Caudate	brain
15	chr6:128839400-128842600	Active TSS	Colonic Mucosa	Colon
16	chr6:128839400-128842600	Active TSS	Fetal Heart	heart
17	chr6:128839400-128842600	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr6:128839400-128842600	Active TSS	NHDF-Ad	bronchial
19	chr6:128839400-128842800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:128839400-128842800	Active TSS	HSMMtube	muscle
21	chr6:128839600-128842600	Active TSS	Left Ventricle	heart
22	chr6:128839600-128842600	Active TSS	Pancreas	Pancrea
23	chr6:128839600-128842600	Active TSS	Rectal Smooth Muscle	rectum
24	chr6:128839600-128842600	Active TSS	A549	lung
25	chr6:128839600-128842600	Active TSS	NHLF	lung
26	chr6:128839800-128842600	Active TSS	H9 Cell Line	embryonic stem cell
27	chr6:128839800-128842600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:128839800-128842600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:128839800-128842600	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr6:128839800-128842600	Active TSS	Psoas Muscle	Psoas
31	chr6:128840000-128842600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:128840000-128842600	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr6:128840000-128842600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:128840000-128842600	Active TSS	Primary T cells from cord blood	blood
35	chr6:128840000-128842600	Active TSS	Placenta Amnion	Placenta Amnion
36	chr6:128840000-128842800	Active TSS	Muscle Satellite Cultured Cells	--
37	chr6:128840000-128842800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:128840000-128842800	Active TSS	Brain Substantia Nigra	brain
39	chr6:128840200-128842600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:128840200-128842600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:128840200-128842600	Active TSS	Right Ventricle	heart
42	chr6:128840200-128842600	Active TSS	Hela-S3	cervix
43	chr6:128840200-128842600	Active TSS	HSMM	muscle
44	chr6:128840200-128842800	Active TSS	H1 Cell Line	embryonic stem cell
45	chr6:128840400-128842600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:128840400-128842600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:128840400-128842600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:128840400-128842600	Active TSS	Placenta	Placenta
49	chr6:128840600-128842600	Active TSS	Fetal Muscle Trunk	muscle
50	chr6:128840800-128842800	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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