Variant report

Variant	rs372457077
Chromosome Location	chr6:30432201-30432202
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:30431944-30432234	HepG2	liver:	n/a	n/a
2	FOXA1	chr6:30431864-30432343	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30432200-30432250	HCPEpiC	choroid plexus:	n/a
2	chr6:30432200-30432250	HEEpiC	esophagus:	n/a
3	chr6:30432200-30432250	HL-60	blood:	n/a
4	chr6:30432200-30432250	PFSK-1	brain:	n/a
5	chr6:30432200-30432250	BE2_C	brain:	n/a
6	chr6:30432200-30432250	GM12891	blood:	n/a
7	chr6:30432200-30432250	HUVEC	blood vessel:	n/a
8	chr6:30432200-30432250	T-47D	breast:	n/a
9	chr6:30432200-30432250	HEK293	kidney:	embryo
10	chr6:30432200-30432250	AG09319	gingival:	n/a
11	chr6:30432200-30432250	CMK	blood:	n/a
12	chr6:30432200-30432250	AG04449	skin:	fetal
13	chr6:30432200-30432250	U87	brain:	n/a
14	chr6:30432200-30432250	PrEC	prostate:	n/a
15	chr6:30432200-30432250	HPAEpiC	pulmonary alveolar:	n/a
16	chr6:30432200-30432250	Hela-S3	cervix:	n/a
17	chr6:30432200-30432250	LNCaP	prostate:	n/a
18	chr6:30432200-30432250	HepG2	liver:	n/a
19	chr6:30432200-30432250	HCF	heart:	n/a
20	chr6:30432200-30432250	NH-A	brain:	n/a
21	chr6:30432200-30432250	IMR90	lung:	fetal
22	chr6:30432200-30432250	NT2-D1	testis:	n/a
23	chr6:30432200-30432250	RPTEC	kidney:	n/a
24	chr6:30432200-30432250	ovcar-3	ovarian:	n/a
25	chr6:30432200-30432250	HIPEpiC	eye:	n/a
26	chr6:30432200-30432250	SK-N-SH_RA	brain:	n/a
27	chr6:30432200-30432250	AG04450	lung:	fetal
28	chr6:30432200-30432250	ProgFib	skin:	n/a
29	chr6:30432200-30432250	PANC-1	pancreas:	n/a
30	chr6:30432200-30432250	GM06990	blood:	n/a
31	chr6:30432200-30432250	GM12878	blood:	n/a
32	chr6:30432200-30432250	HRPEpiC	eye:	n/a
33	chr6:30432200-30432250	HAEpiC	amniotic membrane:	n/a
34	chr6:30432200-30432250	HCT-116	colon:	n/a
35	chr6:30432200-30432250	NHDF-neo	bronchial:	n/a
36	chr6:30432200-30432250	AG09309	skin:	n/a
37	chr6:30432200-30432250	SKMC	muscle:	n/a
38	chr6:30432200-30432250	SK-N-MC	brain:	n/a
39	chr6:30432200-30432250	GM12892	blood:	n/a
40	chr6:30432200-30432250	NHBE	bronchial:	n/a
41	chr6:30432200-30432250	HNPCEpiC	eye:	n/a
42	chr6:30432200-30432250	AoSMC	blood vessel:	n/a
43	chr6:30432200-30432250	K562	blood:	n/a
44	chr6:30432200-30432250	Jurkat	blood:	n/a
45	chr6:30432200-30432250	HRE	kidney:	n/a
46	chr6:30432200-30432250	ECC-1	luminal epithelium:	n/a
47	chr6:30432200-30432250	HRCEpiC	kidney:	n/a
48	chr6:30432200-30432250	MCF10A-Er-Src	breast:	n/a
49	chr6:30432200-30432250	SAEC	small airway:	n/a
50	chr6:30432200-30432250	BJ	skin:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30418502..30422305-chr6:30429667..30432220,3	MCF-7	breast:
2	chr6:30431634..30434565-chr6:30582972..30585070,2	K562	blood:
3	chr6:30430770..30433095-chr6:30579406..30582231,2	K562	blood:
4	chr6:30431634..30435485-chr6:30582972..30586314,3	K562	blood:
5	chr6:30431267..30434167-chr6:30612886..30615610,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMPOP1	TF binding region
SUCLA2P1	TF binding region
SUCLA2P1	CpG island
TMPOP1	CpG island
ENSG00000204564	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204569	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	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601478	chr6:30383768-30438226	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3336846	chr6:30420111-30432946	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
7	nsv884065	chr6:30430520-30446055	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv884066	chr6:30430875-30440732	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv884067	chr6:30430875-30446055	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv884068	chr6:30430875-30447987	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv884069	chr6:30430875-30451474	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
12	nsv884070	chr6:30430875-30472772	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30429800-30434200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:30430800-30432400	Bivalent Enhancer	Fetal Thymus	thymus
3	chr6:30431000-30432400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
4	chr6:30431000-30432400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
5	chr6:30431000-30432400	Bivalent Enhancer	Colon Smooth Muscle	Colon
6	chr6:30431000-30432400	Enhancers	Pancreas	Pancrea
7	chr6:30431000-30432400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
8	chr6:30431000-30432600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
9	chr6:30431000-30432600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:30431000-30432600	Bivalent Enhancer	Adipose Nuclei	Adipose
11	chr6:30431200-30432400	Bivalent Enhancer	Fetal Heart	heart
12	chr6:30431200-30432600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:30431400-30432400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:30431400-30432400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:30431400-30432400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr6:30431400-30432400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr6:30431400-30432400	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr6:30431400-30432400	Bivalent Enhancer	Placenta	Placenta
19	chr6:30431400-30432600	Bivalent Enhancer	Fetal Intestine Small	intestine
20	chr6:30431400-30432800	Bivalent Enhancer	Spleen	Spleen
21	chr6:30431400-30433000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:30431400-30434000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
23	chr6:30431600-30432400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
24	chr6:30431600-30432400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
25	chr6:30431600-30432400	Bivalent Enhancer	Thymus	Thymus
26	chr6:30431600-30434200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
27	chr6:30431600-30434200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:30431800-30432400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:30431800-30432400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:30431800-30432400	Enhancers	Lung	lung
31	chr6:30431800-30432400	Bivalent Enhancer	HMEC	breast
32	chr6:30431800-30433800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
33	chr6:30431800-30434200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
34	chr6:30431800-30434400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
35	chr6:30432000-30432400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:30432000-30432400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:30432000-30432400	Bivalent Enhancer	Colonic Mucosa	Colon
38	chr6:30432000-30432400	Bivalent Enhancer	Stomach Mucosa	stomach
39	chr6:30432000-30432400	Bivalent Enhancer	HSMM	muscle
40	chr6:30432000-30432600	Bivalent Enhancer	Right Ventricle	heart
41	chr6:30432000-30432600	Bivalent Enhancer	HepG2	liver
42	chr6:30432000-30432800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
43	chr6:30432000-30433400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:30432000-30433800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
45	chr6:30432000-30434000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
46	chr6:30432000-30434000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:30432000-30434200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr6:30432000-30434200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
49	chr6:30432200-30432400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
50	chr6:30432200-30432400	Bivalent Enhancer	Stomach Smooth Muscle	stomach

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