Variant report

Variant	rs536136417
Chromosome Location	chr6:150346787-150346788
allele	C/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	MYC	chr6:150346578-150346931	MCF10A-Er-Src	breast:	n/a	chr6:150346726-150346735
2	JUND	chr6:150346418-150347065	MCF-7	breast:	n/a	chr6:150346726-150346736 chr6:150346490-150346499 chr6:150346726-150346736 chr6:150346725-150346736 chr6:150346726-150346736 chr6:150346727-150346736 chr6:150346726-150346736 chr6:150346725-150346737
3	TBP	chr6:150346558-150346909	Hela-S3	cervix:	n/a	n/a
4	MAX	chr6:150346566-150346978	Hela-S3	cervix:	n/a	chr6:150346726-150346735
5	RCOR1	chr6:150346577-150346921	Hela-S3	cervix:	n/a	n/a
6	GATA3	chr6:150346418-150346945	SK-N-SH	brain:	n/a	chr6:150346725-150346734
7	TEAD4	chr6:150346490-150346983	ECC-1	luminal epithelium:	n/a	n/a
8	STAT3	chr6:150346633-150346829	MCF10A-Er-Src	breast:	n/a	chr6:150346727-150346736
9	HDAC2	chr6:150346433-150347114	MCF-7	breast:	n/a	n/a
10	TCF12	chr6:150346654-150347153	ECC-1	luminal epithelium:	n/a	n/a
11	EP300	chr6:150346587-150346852	Hela-S3	cervix:	n/a	chr6:150346726-150346735
12	GATA3	chr6:150346271-150347128	MCF-7	breast:	n/a	chr6:150346725-150346734
13	GATA3	chr6:150346467-150346998	MCF-7	breast:	n/a	chr6:150346725-150346734
14	USF2	chr6:150346603-150346832	Hela-S3	cervix:	n/a	n/a
15	TCF7L2	chr6:150346613-150347499	HCT-116	colon:	n/a	chr6:150346727-150346736
16	GATA3	chr6:150346420-150346966	MCF-7	breast:	n/a	chr6:150346725-150346734
17	JUND	chr6:150346578-150346860	K562	blood:	n/a	chr6:150346726-150346736 chr6:150346726-150346736 chr6:150346725-150346736 chr6:150346726-150346736 chr6:150346727-150346736 chr6:150346726-150346736 chr6:150346725-150346737
18	E2F4	chr6:150346607-150346927	MCF10A-Er-Src	breast:	n/a	n/a
19	TCF12	chr6:150346488-150347009	ECC-1	luminal epithelium:	n/a	n/a
20	YY1	chr6:150346457-150346951	HCT-116	colon:	n/a	n/a
21	JUND	chr6:150346607-150346891	HepG2	liver:	n/a	chr6:150346726-150346736 chr6:150346726-150346736 chr6:150346725-150346736 chr6:150346726-150346736 chr6:150346727-150346736 chr6:150346726-150346736 chr6:150346725-150346737
22	FOSL2	chr6:150346570-150346790	A549	lung:	n/a	chr6:150346726-150346736 chr6:150346726-150346736 chr6:150346726-150346736 chr6:150346727-150346736 chr6:150346726-150346736 chr6:150346725-150346737
23	JUND	chr6:150346539-150346942	Hela-S3	cervix:	n/a	chr6:150346726-150346736 chr6:150346726-150346736 chr6:150346725-150346736 chr6:150346726-150346736 chr6:150346727-150346736 chr6:150346726-150346736 chr6:150346725-150346737
24	RAD21	chr6:150346633-150346886	Hela-S3	cervix:	n/a	n/a
25	NFIC	chr6:150346463-150347192	ECC-1	luminal epithelium:	n/a	n/a
26	NFIC	chr6:150346477-150347154	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr6:150346431-150347183	HCT-116	colon:	n/a	n/a
28	SMC3	chr6:150346531-150346974	Hela-S3	cervix:	n/a	chr6:150346613-150346621
29	CEBPB	chr6:150346556-150346899	Hela-S3	cervix:	n/a	n/a
30	GTF2F1	chr6:150346574-150346966	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr6:150346487-150347137	HCT-116	colon:	n/a	n/a
32	POLR2A	chr6:150346620-150346895	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr6:150346544-150346923	MCF10A-Er-Src	breast:	n/a	chr6:150346726-150346736 chr6:150346725-150346736 chr6:150346726-150346736 chr6:150346726-150346736 chr6:150346727-150346736 chr6:150346726-150346736 chr6:150346725-150346737
34	RFX5	chr6:150346545-150346927	Hela-S3	cervix:	n/a	n/a
35	MAX	chr6:150346592-150347142	ECC-1	luminal epithelium:	n/a	chr6:150346726-150346735
36	FOSL2	chr6:150346507-150347052	MCF-7	breast:	n/a	chr6:150346726-150346736 chr6:150346726-150346736 chr6:150346726-150346736 chr6:150346727-150346736 chr6:150346726-150346736 chr6:150346725-150346737
37	ZNF217	chr6:150346593-150346837	MCF-7	breast:	n/a	n/a
38	JUND	chr6:150346696-150346896	H1-hESC	embryonic stem cell:	n/a	chr6:150346726-150346736 chr6:150346726-150346736 chr6:150346725-150346736 chr6:150346726-150346736 chr6:150346727-150346736 chr6:150346726-150346736 chr6:150346725-150346737
39	FOSL2	chr6:150346497-150346996	SK-N-SH	brain:	n/a	chr6:150346726-150346736 chr6:150346726-150346736 chr6:150346726-150346736 chr6:150346727-150346736 chr6:150346726-150346736 chr6:150346725-150346737
40	MAZ	chr6:150346546-150346993	Hela-S3	cervix:	n/a	chr6:150346726-150346735
41	STAT3	chr6:150346493-150346903	MCF10A-Er-Src	breast:	n/a	chr6:150346727-150346736
42	BATF	chr6:150346621-150346888	GM12878	blood:	n/a	chr6:150346723-150346734 chr6:150346728-150346738 chr6:150346724-150346734
43	HA-E2F1	chr6:150346502-150347024	MCF-7	breast:	n/a	n/a
44	MYC	chr6:150346606-150346896	MCF10A-Er-Src	breast:	n/a	chr6:150346726-150346735
45	JUN	chr6:150346553-150346903	Hela-S3	cervix:	n/a	chr6:150346726-150346736 chr6:150346726-150346736 chr6:150346726-150346736 chr6:150346727-150346736 chr6:150346726-150346736 chr6:150346725-150346737
46	FOS	chr6:150346550-150347601	MCF10A-Er-Src	breast:	n/a	chr6:150346726-150346736 chr6:150346725-150346736 chr6:150346726-150346736 chr6:150346726-150346736 chr6:150346727-150346736 chr6:150346726-150346736 chr6:150346725-150346737
47	STAT3	chr6:150346554-150346895	MCF10A-Er-Src	breast:	n/a	chr6:150346727-150346736
48	GATA3	chr6:150346555-150346788	T-47D	breast:	n/a	chr6:150346725-150346734
49	STAT3	chr6:150346528-150346981	MCF10A-Er-Src	breast:	n/a	chr6:150346727-150346736
50	MAX	chr6:150346595-150347111	ECC-1	luminal epithelium:	n/a	chr6:150346726-150346735

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:150346787-150346837	NB4	blood:	n/a
2	chr6:150346787-150346837	BJ	skin:	n/a
3	chr6:150346787-150346837	HCT-116	colon:	n/a
4	chr6:150346787-150346837	GM06990	blood:	n/a
5	chr6:150346787-150346837	Caco-2	colon:	n/a
6	chr6:150346787-150346837	NT2-D1	testis:	n/a
7	chr6:150346787-150346837	SK-N-SH_RA	brain:	n/a
8	chr6:150346787-150346837	NHBE	bronchial:	n/a
9	chr6:150346787-150346837	HRE	kidney:	n/a
10	chr6:150346787-150346837	U87	brain:	n/a
11	chr6:150346787-150346837	PANC-1	pancreas:	n/a
12	chr6:150346787-150346837	NH-A	brain:	n/a
13	chr6:150346787-150346837	AG09309	skin:	n/a
14	chr6:150346787-150346837	HMEC	breast:	n/a
15	chr6:150346787-150346837	HCF	heart:	n/a
16	chr6:150346787-150346837	NHDF-neo	bronchial:	n/a
17	chr6:150346787-150346837	MCF-7	breast:	n/a
18	chr6:150346787-150346837	HUVEC	blood vessel:	n/a
19	chr6:150346787-150346837	LNCaP	prostate:	n/a
20	chr6:150346787-150346837	HEEpiC	esophagus:	n/a
21	chr6:150346787-150346837	HL-60	blood:	n/a
22	chr6:150346787-150346837	GM12878	blood:	n/a
23	chr6:150346787-150346837	AG04449	skin:	fetal
24	chr6:150346787-150346837	HEK293	kidney:	embryo
25	chr6:150346787-150346837	RPTEC	kidney:	n/a
26	chr6:150346787-150346837	ovcar-3	ovarian:	n/a
27	chr6:150346787-150346837	T-47D	breast:	n/a
28	chr6:150346787-150346837	HRPEpiC	eye:	n/a
29	chr6:150346787-150346837	Hela-S3	cervix:	n/a
30	chr6:150346787-150346837	HCPEpiC	choroid plexus:	n/a
31	chr6:150346787-150346837	AoSMC	blood vessel:	n/a
32	chr6:150346787-150346837	PFSK-1	brain:	n/a
33	chr6:150346787-150346837	HNPCEpiC	eye:	n/a
34	chr6:150346787-150346837	HIPEpiC	eye:	n/a
35	chr6:150346787-150346837	AG04450	lung:	fetal
36	chr6:150346787-150346837	CMK	blood:	n/a
37	chr6:150346787-150346837	GM12892	blood:	n/a
38	chr6:150346787-150346837	HPAEpiC	pulmonary alveolar:	n/a
39	chr6:150346787-150346837	GM19239	blood:	n/a
40	chr6:150346787-150346837	IMR90	lung:	fetal
41	chr6:150346787-150346837	HCM	heart:	n/a
42	chr6:150346787-150346837	HRCEpiC	kidney:	n/a
43	chr6:150346787-150346837	A549	lung:	n/a
44	chr6:150346787-150346837	MCF10A-Er-Src	breast:	n/a
45	chr6:150346787-150346837	SK-N-SH	brain:	n/a
46	chr6:150346787-150346837	Hepatocyte	liver:	n/a
47	chr6:150346787-150346837	SK-N-MC	brain:	n/a
48	chr6:150346787-150346837	HAEpiC	amniotic membrane:	n/a
49	chr6:150346787-150346837	ECC-1	luminal epithelium:	n/a
50	chr6:150346787-150346837	H1-hESC	embryonic stem cell:	embryo

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:150155381..150157771-chr6:150346025..150347800,2	MCF-7	breast:

Variant related genes	Relation type
RAET1L	TF binding region
RAET1L	CpG island
ENSG00000120256	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv7375	chr6:150324114-150388625	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3344440	chr6:150324131-150388650	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3323918	chr6:150327978-150392099	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv886766	chr6:150335407-150364009	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv886767	chr6:150335407-150400488	Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv464077	chr6:150338065-150358012	Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv604847	chr6:150338065-150358012	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv5535	chr6:150339697-150361659	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv886768	chr6:150340035-150366143	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv886769	chr6:150346037-150364009	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150345800-150346800	Enhancers	Lung	lung
2	chr6:150345800-150347000	Enhancers	Gastric	stomach
3	chr6:150345800-150347000	Bivalent Enhancer	Stomach Mucosa	stomach
4	chr6:150345800-150347200	Flanking Active TSS	Esophagus	oesophagus
5	chr6:150345800-150347400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr6:150346000-150346800	Bivalent Enhancer	Fetal Stomach	stomach
7	chr6:150346000-150347000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:150346000-150347400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:150346000-150348200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:150346200-150346800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr6:150346200-150346800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
12	chr6:150346200-150346800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
13	chr6:150346200-150346800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:150346200-150346800	Bivalent Enhancer	Brain Germinal Matrix	brain
15	chr6:150346200-150346800	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr6:150346200-150346800	Enhancers	Ovary	ovary
17	chr6:150346200-150346800	Bivalent Enhancer	Spleen	Spleen
18	chr6:150346200-150347000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
19	chr6:150346200-150347000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr6:150346200-150347000	Bivalent Enhancer	Placenta	Placenta
21	chr6:150346200-150347000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr6:150346200-150347200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr6:150346200-150347200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
24	chr6:150346200-150347200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
25	chr6:150346200-150347200	Flanking Active TSS	HMEC	breast
26	chr6:150346200-150347400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr6:150346200-150347400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:150346200-150347400	Bivalent Enhancer	Fetal Heart	heart
29	chr6:150346200-150347400	Enhancers	Pancreas	Pancrea
30	chr6:150346200-150347400	Flanking Active TSS	NHEK	skin
31	chr6:150346200-150347600	Bivalent Enhancer	Fetal Intestine Small	intestine
32	chr6:150346400-150346800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
33	chr6:150346400-150346800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:150346400-150346800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
35	chr6:150346400-150346800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
36	chr6:150346400-150346800	Flanking Active TSS	A549	lung
37	chr6:150346400-150346800	Flanking Bivalent TSS/Enh	HSMMtube	muscle
38	chr6:150346400-150346800	Flanking Active TSS	NH-A	brain
39	chr6:150346400-150347000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
40	chr6:150346400-150347000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
41	chr6:150346400-150347000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr6:150346400-150347000	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr6:150346400-150347000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
44	chr6:150346400-150347000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
45	chr6:150346400-150347000	Bivalent Enhancer	Brain Substantia Nigra	brain
46	chr6:150346400-150347000	Flanking Active TSS	Hela-S3	cervix
47	chr6:150346400-150347000	Flanking Bivalent TSS/Enh	Osteobl	bone
48	chr6:150346400-150347200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
49	chr6:150346400-150347200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr6:150346400-150347200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung

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