Variant report

Variant	rs2502635
Chromosome Location	chr6:144605762-144605763
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	HDAC2	chr6:144605658-144607034	MCF-7	breast:	n/a	chr6:144606760-144606774 chr6:144606810-144606824 chr6:144606754-144606768 chr6:144606759-144606773 chr6:144606809-144606823 chr6:144606764-144606778 chr6:144606763-144606777
2	MYBL2	chr6:144605551-144606824	HepG2	liver:	n/a	n/a
3	ZKSCAN1	chr6:144605453-144607132	Hela-S3	cervix:	n/a	n/a
4	MAX	chr6:144605701-144608607	A549	lung:	n/a	chr6:144607617-144607627 chr6:144608063-144608073
5	HEY1	chr6:144605686-144608593	HepG2	liver:	n/a	chr6:144606176-144606191 chr6:144607647-144607662 chr6:144606001-144606016 chr6:144606173-144606188 chr6:144606206-144606221
6	MAX	chr6:144605678-144606717	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr6:144605199-144608606	HepG2	liver:	n/a	chr6:144605219-144605229 chr6:144605445-144605461 chr6:144607617-144607627 chr6:144608063-144608073 chr6:144605439-144605454
8	MYC	chr6:144605725-144608013	NB4	blood:	n/a	chr6:144607617-144607627
9	CEBPB	chr6:144605685-144608621	Hela-S3	cervix:	n/a	chr6:144606714-144606727 chr6:144606714-144606725 chr6:144606631-144606642 chr6:144606714-144606727 chr6:144606716-144606727 chr6:144607845-144607858
10	MYC	chr6:144605268-144606007	MCF10A-Er-Src	breast:	n/a	chr6:144605445-144605461 chr6:144605439-144605454
11	MAFF	chr6:144605363-144606117	HepG2	liver:	n/a	chr6:144605758-144605776
12	MAFK	chr6:144605296-144606127	HepG2	liver:	n/a	chr6:144605759-144605774 chr6:144605759-144605775
13	RAD21	chr6:144605133-144608594	IMR90	lung:	n/a	chr6:144606495-144606509 chr6:144605977-144605990 chr6:144606285-144606298
14	SIN3AK20	chr6:144605717-144608658	PANC-1	pancreas:	n/a	n/a
15	GATA3	chr6:144605713-144606829	A549	lung:	n/a	n/a
16	ZNF263	chr6:144604924-144608542	HEK293-T-REx	kidney:	n/a	chr6:144607029-144607038 chr6:144607880-144607889 chr6:144606409-144606418 chr6:144606412-144606421 chr6:144606416-144606437 chr6:144606415-144606424 chr6:144607284-144607293
17	RAD21	chr6:144605752-144606831	ECC-1	luminal epithelium:	n/a	chr6:144606495-144606509 chr6:144605977-144605990 chr6:144606285-144606298
18	POLR2A	chr6:144605702-144608394	Hela-S3	cervix:	n/a	n/a
19	SIN3A	chr6:144605403-144608535	H1-hESC	embryonic stem cell:	n/a	chr6:144606240-144606249 chr6:144606502-144606515
20	POLR2A	chr6:144605662-144607308	MCF10A-Er-Src	breast:	n/a	n/a
21	EP300	chr6:144605729-144607256	ECC-1	luminal epithelium:	n/a	chr6:144607021-144607030 chr6:144606175-144606184 chr6:144606753-144606767 chr6:144606177-144606186 chr6:144606583-144606592 chr6:144606176-144606192 chr6:144606496-144606512 chr6:144606308-144606324 chr6:144606761-144606775 chr6:144606401-144606417 chr6:144606499-144606515
22	TFAP2A	chr6:144605679-144607851	Hela-S3	cervix:	n/a	chr6:144606287-144606298 chr6:144606978-144606988 chr6:144607176-144607186 chr6:144606287-144606298 chr6:144606287-144606298 chr6:144607176-144607186 chr6:144606506-144606518 chr6:144606978-144606988 chr6:144607003-144607018 chr6:144607003-144607017 chr6:144606231-144606243 chr6:144607003-144607015 chr6:144605977-144605988 chr6:144606287-144606298 chr6:144606978-144606988 chr6:144605975-144605987 chr6:144605977-144605987 chr6:144606943-144606958 chr6:144606978-144606988 chr6:144607003-144607017
23	TEAD4	chr6:144605649-144606644	ECC-1	luminal epithelium:	n/a	n/a
24	USF1	chr6:144605700-144606724	HCT-116	colon:	n/a	chr6:144606007-144606023 chr6:144605999-144606015 chr6:144606497-144606513 chr6:144606500-144606516 chr6:144606059-144606070
25	KAP1	chr6:144604982-144607381	HEK293	kidney:	n/a	n/a
26	CTBP2	chr6:144605659-144607377	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr6:144605267-144608687	Hela-S3	cervix:	n/a	chr6:144605445-144605461 chr6:144607617-144607627 chr6:144608063-144608073 chr6:144605439-144605454
28	STAT3	chr6:144605460-144606042	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr6:144605761-144606784	HCT-116	colon:	n/a	n/a
30	RCOR1	chr6:144605761-144608601	Hela-S3	cervix:	n/a	n/a
31	STAT3	chr6:144605712-144606035	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr6:144605633-144608569	HepG2	liver:	n/a	n/a
33	MYBL2	chr6:144605571-144607213	HepG2	liver:	n/a	n/a
34	NFIC	chr6:144605714-144606798	HepG2	liver:	n/a	n/a
35	FOXA1	chr6:144605742-144606658	HepG2	liver:	n/a	n/a
36	TAF1	chr6:144605696-144607667	ECC-1	luminal epithelium:	n/a	n/a
37	EP300	chr6:144605754-144606232	HepG2	liver:	n/a	chr6:144606175-144606184 chr6:144606177-144606186 chr6:144606176-144606192
38	SIN3AK20	chr6:144605450-144607805	MCF-7	breast:	n/a	n/a
39	MAX	chr6:144605618-144608711	A549	lung:	n/a	chr6:144607617-144607627 chr6:144608063-144608073
40	BACH1	chr6:144605445-144605952	H1-hESC	embryonic stem cell:	n/a	chr6:144605858-144605872
41	MAX	chr6:144605686-144606768	HepG2	liver:	n/a	n/a
42	POLR2A	chr6:144605695-144606814	PFSK-1	brain:	n/a	n/a
43	POLR2A	chr6:144605330-144607776	HUVEC	blood vessel:	n/a	n/a
44	E2F6	chr6:144605684-144606736	H1-hESC	embryonic stem cell:	n/a	chr6:144606515-144606530 chr6:144606181-144606190 chr6:144606515-144606530 chr6:144606179-144606189 chr6:144606176-144606186 chr6:144606691-144606698
45	MAFK	chr6:144605313-144606086	IMR90	lung:	n/a	chr6:144605759-144605774 chr6:144605759-144605775
46	MXI1	chr6:144605336-144608539	HepG2	liver:	n/a	n/a
47	CTCF	chr6:144605620-144605770	AG09319	gingival:	n/a	n/a
48	POLR2A	chr6:144605627-144607088	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr6:144605652-144606026	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr6:144605686-144606032	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144601184..144602939-chr6:144604140..144606671,2	K562	blood:
2	chr6:144605120..144606682-chr6:144616870..144619155,2	K562	blood:

Variant related genes	Relation type
UTRN	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs2017652	0.89[EUR][1000 genomes]
rs2473130	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2473135	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2473136	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2473137	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2473138	0.89[EUR][1000 genomes]
rs2473139	0.89[EUR][1000 genomes]
rs2473140	0.89[EUR][1000 genomes]
rs2473141	0.89[EUR][1000 genomes]
rs2473142	0.89[EUR][1000 genomes]
rs2473143	0.89[EUR][1000 genomes]
rs2473144	0.89[EUR][1000 genomes]
rs2473146	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2473147	0.81[ASN][1000 genomes]
rs2473148	0.86[EUR][1000 genomes]
rs2473149	0.86[EUR][1000 genomes]
rs2473150	0.84[EUR][1000 genomes]
rs2473151	0.82[EUR][1000 genomes]
rs2502628	0.89[EUR][1000 genomes]
rs2502630	0.91[EUR][1000 genomes]
rs2502631	0.84[EUR][1000 genomes]
rs2502634	0.84[AMR][1000 genomes]
rs2502637	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2502638	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2502639	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2502642	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2502643	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]

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	nsv830831	chr6:144501371-144649509	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144587800-144605800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:144604800-144608400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:144604800-144608800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:144604800-144608800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:144604800-144608800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:144604800-144609000	Active TSS	Brain Anterior Caudate	brain
7	chr6:144605000-144605800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr6:144605000-144605800	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr6:144605000-144605800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr6:144605000-144605800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:144605000-144605800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:144605000-144605800	Flanking Active TSS	NHEK	skin
13	chr6:144605000-144607200	Active TSS	H1 Cell Line	embryonic stem cell
14	chr6:144605000-144607400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:144605000-144607800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr6:144605000-144608600	Active TSS	Brain Hippocampus Middle	brain
17	chr6:144605000-144608800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:144605000-144608800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:144605000-144608800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr6:144605000-144608800	Active TSS	Fetal Lung	lung
21	chr6:144605000-144608800	Active TSS	Right Atrium	heart
22	chr6:144605000-144608800	Active TSS	Right Ventricle	heart
23	chr6:144605000-144608800	Active TSS	NHLF	lung
24	chr6:144605000-144609000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:144605000-144609000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr6:144605000-144609000	Active TSS	Ovary	ovary
27	chr6:144605000-144609000	Active TSS	Psoas Muscle	Psoas
28	chr6:144605000-144609600	Active TSS	Stomach Smooth Muscle	stomach
29	chr6:144605200-144605800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr6:144605200-144605800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr6:144605200-144605800	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr6:144605200-144605800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:144605200-144605800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr6:144605200-144605800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr6:144605200-144606000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr6:144605200-144606000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr6:144605200-144606000	Active TSS	Brain Germinal Matrix	brain
38	chr6:144605200-144606200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:144605200-144606800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:144605200-144606800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:144605200-144607200	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr6:144605200-144607800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:144605200-144608200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:144605200-144608400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:144605200-144608600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr6:144605200-144608600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:144605200-144608600	Active TSS	H9 Cell Line	embryonic stem cell
48	chr6:144605200-144608600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr6:144605200-144608600	Active TSS	Colonic Mucosa	Colon
50	chr6:144605200-144608600	Active TSS	Fetal Heart	heart

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