Variant report

Variant	rs182074653
Chromosome Location	chr6:128842740-128842741
allele	A/G
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	TEAD4	chr6:128841319-128842741	SK-N-SH	brain:	n/a	n/a
2	FOS	chr6:128842019-128842782	HUVEC	blood vessel:	n/a	chr6:128842574-128842585
3	RAD21	chr6:128841460-128842800	Hela-S3	cervix:	n/a	chr6:128841979-128841991 chr6:128841929-128841943
4	TCF12	chr6:128839932-128842908	SK-N-SH	brain:	n/a	chr6:128842311-128842318
5	FOS	chr6:128842240-128842750	MCF10A-Er-Src	breast:	n/a	chr6:128842574-128842585
6	FOS	chr6:128842295-128842750	MCF10A-Er-Src	breast:	n/a	chr6:128842574-128842585
7	PBX3	chr6:128841469-128842812	SK-N-SH	brain:	n/a	n/a
8	CEBPB	chr6:128841383-128842816	Hela-S3	cervix:	n/a	chr6:128842683-128842695
9	POLR2A	chr6:128841413-128842740	SK-N-SH	brain:	n/a	n/a
10	STAT3	chr6:128842522-128842753	MCF10A-Er-Src	breast:	n/a	chr6:128842576-128842585 chr6:128842575-128842584
11	MXI1	chr6:128839589-128842941	IMR90	lung:	n/a	n/a
12	STAT3	chr6:128842461-128842807	MCF10A-Er-Src	breast:	n/a	chr6:128842576-128842585 chr6:128842575-128842584
13	POLR2A	chr6:128840737-128842988	MCF10A-Er-Src	breast:	n/a	n/a
14	KAP1	chr6:128840787-128842750	HEK293	kidney:	n/a	chr6:128842058-128842066
15	RAD21	chr6:128839704-128842769	IMR90	lung:	n/a	chr6:128841979-128841991 chr6:128841149-128841158 chr6:128841929-128841943
16	PBX3	chr6:128841323-128842978	SK-N-SH	brain:	n/a	n/a
17	MYC	chr6:128841377-128842797	MCF10A-Er-Src	breast:	n/a	chr6:128841389-128841399
18	POLR2A	chr6:128839793-128842852	MCF10A-Er-Src	breast:	n/a	n/a
19	MAZ	chr6:128839977-128842744	IMR90	lung:	n/a	chr6:128841389-128841399
20	REST	chr6:128840067-128842792	H1-neurons	neurons:	n/a	chr6:128841707-128841720 chr6:128841921-128841934 chr6:128841577-128841590
21	FOS	chr6:128842164-128842807	MCF10A-Er-Src	breast:	n/a	chr6:128842574-128842585
22	FOS	chr6:128842197-128842808	MCF10A-Er-Src	breast:	n/a	chr6:128842574-128842585
23	POLR2A	chr6:128842506-128842798	ProgFib	skin:	n/a	n/a
24	CEBPB	chr6:128842267-128842823	IMR90	lung:	n/a	chr6:128842683-128842695

No.	Distal block	Cell Line	Cell type
1	chr6:128529927..128532522-chr6:128841893..128843396,2	MCF-7	breast:
2	chr6:128669634..128671989-chr6:128842689..128844220,2	MCF-7	breast:
3	chr6:128666022..128668619-chr6:128842327..128844085,2	MCF-7	breast:
4	chr16:75143191..75144858-chr6:128840309..128843134,2	MCF-7	breast:
5	chr6:128819294..128822394-chr6:128840492..128843286,6	MCF-7	breast:
6	chr6:128817983..128822479-chr6:128839649..128843314,6	MCF-7	breast:

Variant related genes	Relation type
PTPRK	TF binding region
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:69 , 50 per page) page: 1 2

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	chr6:128838600-128842800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:128838600-128842800	Active TSS	Brain Angular Gyrus	brain
5	chr6:128838800-128842800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:128838800-128842800	Active TSS	Stomach Smooth Muscle	stomach
7	chr6:128839200-128842800	Active TSS	Right Atrium	heart
8	chr6:128839400-128842800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:128839400-128842800	Active TSS	HSMMtube	muscle
10	chr6:128840000-128842800	Active TSS	Muscle Satellite Cultured Cells	--
11	chr6:128840000-128842800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:128840000-128842800	Active TSS	Brain Substantia Nigra	brain
13	chr6:128840200-128842800	Active TSS	H1 Cell Line	embryonic stem cell
14	chr6:128840800-128842800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr6:128841000-128843000	Active TSS	Fetal Brain Female	brain
16	chr6:128841400-128843000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:128841600-128842800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:128842200-128842800	Flanking Active TSS	HUVEC	blood vessel
19	chr6:128842200-128843000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:128842200-128843000	Flanking Active TSS	HMEC	breast
21	chr6:128842400-128842800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr6:128842400-128842800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr6:128842400-128842800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr6:128842400-128842800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr6:128842400-128842800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
26	chr6:128842400-128842800	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr6:128842400-128842800	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr6:128842400-128842800	Flanking Active TSS	Fetal Kidney	kidney
29	chr6:128842400-128842800	Flanking Active TSS	Fetal Lung	lung
30	chr6:128842400-128842800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr6:128842400-128842800	Flanking Active TSS	NH-A	brain
32	chr6:128842400-128842800	Flanking Active TSS	NHEK	skin
33	chr6:128842400-128843000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:128842400-128843000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:128842400-128846200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:128842600-128842800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr6:128842600-128842800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:128842600-128842800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:128842600-128842800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr6:128842600-128842800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr6:128842600-128842800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:128842600-128842800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
43	chr6:128842600-128842800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr6:128842600-128842800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:128842600-128842800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:128842600-128842800	Enhancers	Liver	Liver
47	chr6:128842600-128842800	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr6:128842600-128842800	Enhancers	Brain Hippocampus Middle	brain
49	chr6:128842600-128842800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:128842600-128842800	Enhancers	Colon Smooth Muscle	Colon

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