Variant report

Variant	rs531526983
Chromosome Location	chr6:36987245-36987246
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr6:36985940-36987551	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr6:36985780-36987455	MCF-7	breast:	n/a	chr6:36986115-36986133
3	TEAD4	chr6:36985911-36987391	ECC-1	luminal epithelium:	n/a	n/a
4	NFIC	chr6:36985983-36987395	ECC-1	luminal epithelium:	n/a	chr6:36987057-36987073 chr6:36987013-36987030
5	TEAD4	chr6:36986814-36987382	ECC-1	luminal epithelium:	n/a	n/a
6	CTCF	chr6:36987180-36987330	HCPEpiC	choroid plexus:	n/a	n/a
7	MAX	chr6:36986771-36987531	MCF-7	breast:	n/a	n/a
8	RAD21	chr6:36984773-36987677	SK-N-SH	brain:	n/a	chr6:36986113-36986132 chr6:36985544-36985557 chr6:36985604-36985617
9	NFIC	chr6:36986464-36987398	ECC-1	luminal epithelium:	n/a	chr6:36987057-36987073 chr6:36987013-36987030
10	MAX	chr6:36986861-36987349	ECC-1	luminal epithelium:	n/a	n/a
11	SMC3	chr6:36985181-36987422	SK-N-SH	brain:	n/a	n/a
12	FOSL1	chr6:36986888-36987324	K562	blood:	n/a	n/a
13	CTCF	chr6:36987220-36987370	GM12872	blood:	n/a	n/a
14	MYC	chr6:36985897-36987262	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr6:36986848-36987319	MCF-7	breast:	n/a	n/a
16	CTCF	chr6:36985556-36987592	HCT-116	colon:	n/a	chr6:36986115-36986133
17	SRF	chr6:36986436-36987436	ECC-1	luminal epithelium:	n/a	n/a
18	SMC3	chr6:36985849-36987304	Hela-S3	cervix:	n/a	n/a
19	MYC	chr6:36987040-36987266	MCF10A-Er-Src	breast:	n/a	n/a
20	CTCF	chr6:36987120-36987270	HEEpiC	esophagus:	n/a	n/a
21	RAD21	chr6:36985794-36987291	ECC-1	luminal epithelium:	n/a	chr6:36986113-36986132
22	MYC	chr6:36987048-36987299	MCF10A-Er-Src	breast:	n/a	n/a
23	CTCF	chr6:36985245-36987544	SK-N-SH	brain:	n/a	chr6:36986115-36986133
24	ESR1	chr6:36986863-36987339	ECC-1	luminal epithelium:	n/a	n/a
25	TCF12	chr6:36986463-36987358	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36985829..36988521-chr6:36988646..36990558,2	K562	blood:
2	chr6:36985713..36987315-chr6:37177177..37178923,41	K562	blood:
3	chr6:36987000..36988996-chr6:36992167..36994325,2	MCF-7	breast:
4	chr6:36985833..36987427-chr6:37139677..37140666,12	MCF-7	breast:
5	chr6:36831717..36834035-chr6:36985083..36987828,2	K562	blood:
6	chr6:36984736..36987348-chr6:37138212..37139729,2	K562	blood:
7	chr6:36984774..36987733-chr6:36993476..36997065,5	K562	blood:
8	chr6:36851998..36854194-chr6:36984664..36987550,2	K562	blood:
9	chr6:36947258..36950041-chr6:36986048..36987573,2	MCF-7	breast:
10	chr6:36986055..36987477-chr6:37177799..37178902,22	MCF-7	breast:
11	chr6:36985904..36987716-chr6:37141908..37143451,2	MCF-7	breast:
12	chr6:36985644..36987482-chr6:37177455..37178899,11	MCF-7	breast:
13	chr6:36928588..36930558-chr6:36986253..36988587,2	K562	blood:
14	chr6:36952434..36955977-chr6:36983476..36987276,5	MCF-7	breast:
15	chr6:36852005..36855458-chr6:36984429..36987560,3	K562	blood:
16	chr6:36985845..36988567-chr6:37138212..37140631,3	K562	blood:
17	chr6:36951647..36954567-chr6:36984468..36987638,6	K562	blood:
18	chr6:36980695..36984451-chr6:36985282..36988423,5	K562	blood:
19	chr6:36986111..36987939-chr6:37176127..37178450,2	MCF-7	breast:
20	chr6:36985158..36987310-chr6:37189028..37190861,2	K562	blood:

No data

Variant related genes	Relation type
FGD2	TF binding region
ENSG00000137193	Chromatin interaction
ENSG00000198663	Chromatin interaction
ENSG00000137409	Chromatin interaction
ENSG00000146192	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv518386	chr6:36942746-37037670	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv885816	chr6:36965099-36999682	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv515488	chr6:36978745-36989587	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	esv3436059	chr6:36986674-36990872	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36975400-36988600	Weak transcription	Gastric	stomach
2	chr6:36975600-36988200	Weak transcription	Esophagus	oesophagus
3	chr6:36975600-36989600	Weak transcription	Thymus	Thymus
4	chr6:36983400-36995000	Weak transcription	Lung	lung
5	chr6:36984800-36989000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr6:36985200-36987400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:36985200-36987400	Enhancers	Brain Cingulate Gyrus	brain
8	chr6:36985200-36988200	Genic enhancers	Primary B cells from peripheral blood	blood
9	chr6:36985400-36987400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr6:36985400-36987400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr6:36985400-36987400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr6:36985400-36987400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:36985400-36987400	Enhancers	Fetal Muscle Trunk	muscle
14	chr6:36985400-36987600	Enhancers	Brain Germinal Matrix	brain
15	chr6:36985600-36987400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:36985600-36987400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr6:36985600-36987400	Enhancers	Primary hematopoietic stem cells	blood
18	chr6:36985600-36987400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:36985600-36987400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr6:36985600-36987400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:36985600-36987400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:36985600-36987400	Enhancers	Colon Smooth Muscle	Colon
23	chr6:36985600-36987400	Enhancers	Fetal Stomach	stomach
24	chr6:36985600-36987600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:36985600-36987600	Enhancers	HMEC	breast
26	chr6:36985600-36988800	Enhancers	Fetal Heart	heart
27	chr6:36985800-36987400	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr6:36985800-36987400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr6:36985800-36987400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:36985800-36987400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr6:36985800-36987400	Enhancers	NHEK	skin
32	chr6:36985800-36988200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr6:36985800-36988200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:36986000-36989200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:36986000-36989600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:36986200-36987400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:36986200-36987600	Enhancers	Liver	Liver
38	chr6:36986200-36989000	Enhancers	Pancreas	Pancrea
39	chr6:36986400-36987400	Enhancers	Hela-S3	cervix
40	chr6:36986400-36987600	Enhancers	Stomach Smooth Muscle	stomach
41	chr6:36986400-36987600	Enhancers	Dnd41	blood
42	chr6:36986400-36988200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr6:36986400-36988600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr6:36986400-36989400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:36986400-36989400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:36986400-36989400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:36986400-36989600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr6:36986400-36990000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr6:36986600-36987400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:36986600-36987400	Enhancers	Rectal Smooth Muscle	rectum

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