Variant report

Variant	rs556613898
Chromosome Location	chr6:30433854-30433855
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr6:30433688-30434841	K562	blood:	n/a	chr6:30433883-30433894 chr6:30433880-30433895 chr6:30433885-30433894
2	ELF1	chr6:30433840-30434160	K562	blood:	n/a	chr6:30434031-30434044 chr6:30434033-30434042
3	UBTF	chr6:30433757-30434658	K562	blood:	n/a	n/a
4	POLR2A	chr6:30433848-30433892	Gliobla	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30433838-30433888	Jurkat	blood:	n/a
2	chr6:30433838-30433888	HRCEpiC	kidney:	n/a
3	chr6:30433838-30433888	SK-N-SH_RA	brain:	n/a
4	chr6:30433838-30433888	AoSMC	blood vessel:	n/a
5	chr6:30433838-30433888	LNCaP	prostate:	n/a
6	chr6:30433838-30433888	Hepatocyte	liver:	n/a
7	chr6:30433838-30433888	BE2_C	brain:	n/a
8	chr6:30433838-30433888	NHBE	bronchial:	n/a
9	chr6:30433838-30433888	GM12878	blood:	n/a
10	chr6:30433838-30433888	NT2-D1	testis:	n/a
11	chr6:30433838-30433888	ECC-1	luminal epithelium:	n/a
12	chr6:30433838-30433888	SK-N-SH	brain:	n/a
13	chr6:30433838-30433888	NH-A	brain:	n/a
14	chr6:30433838-30433888	AG10803	skin:	n/a
15	chr6:30433838-30433888	SK-N-MC	brain:	n/a
16	chr6:30433838-30433888	SAEC	small airway:	n/a
17	chr6:30433838-30433888	NHDF-neo	bronchial:	n/a
18	chr6:30433838-30433888	GM19239	blood:	n/a
19	chr6:30433838-30433888	HRE	kidney:	n/a
20	chr6:30433838-30433888	HAEpiC	amniotic membrane:	n/a
21	chr6:30433838-30433888	HEK293	kidney:	embryo
22	chr6:30433838-30433888	HepG2	liver:	n/a
23	chr6:30433838-30433888	HIPEpiC	eye:	n/a
24	chr6:30433838-30433888	K562	blood:	n/a
25	chr6:30433838-30433888	HCF	heart:	n/a
26	chr6:30433838-30433888	AG04449	skin:	fetal
27	chr6:30433838-30433888	IMR90	lung:	fetal
28	chr6:30433838-30433888	BJ	skin:	n/a
29	chr6:30433838-30433888	CMK	blood:	n/a
30	chr6:30433838-30433888	PANC-1	pancreas:	n/a
31	chr6:30433838-30433888	A549	lung:	n/a
32	chr6:30433838-30433888	HEEpiC	esophagus:	n/a
33	chr6:30433838-30433888	HUVEC	blood vessel:	n/a
34	chr6:30433838-30433888	MCF10A-Er-Src	breast:	n/a
35	chr6:30433838-30433888	NB4	blood:	n/a
36	chr6:30433838-30433888	GM12891	blood:	n/a
37	chr6:30433838-30433888	AG09309	skin:	n/a
38	chr6:30433838-30433888	PFSK-1	brain:	n/a
39	chr6:30433838-30433888	HCT-116	colon:	n/a
40	chr6:30433838-30433888	HPAEpiC	pulmonary alveolar:	n/a
41	chr6:30433838-30433888	RPTEC	kidney:	n/a
42	chr6:30433838-30433888	ovcar-3	ovarian:	n/a
43	chr6:30433838-30433888	HCM	heart:	n/a
44	chr6:30433838-30433888	GM06990	blood:	n/a
45	chr6:30433838-30433888	H1-hESC	embryonic stem cell:	embryo
46	chr6:30433838-30433888	PrEC	prostate:	n/a
47	chr6:30433838-30433888	AG04450	lung:	fetal
48	chr6:30433838-30433888	HNPCEpiC	eye:	n/a
49	chr6:30433838-30433888	U87	brain:	n/a
50	chr6:30433838-30433888	AG09319	gingival:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30431634..30434565-chr6:30582972..30585070,2	K562	blood:
2	chr6:30433130..30435301-chr6:30582917..30586018,4	MCF-7	breast:
3	chr6:30431634..30435485-chr6:30582972..30586314,3	K562	blood:
4	chr6:30431267..30434167-chr6:30612886..30615610,2	MCF-7	breast:

No data

Variant related genes	Relation type
SUCLA2P1	TF binding region
TMPOP1	TF binding region
TMPOP1	CpG island
SUCLA2P1	CpG island
ENSG00000204569	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000204564	Chromatin interaction
ENSG00000222894	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv884071	chr6:30433090-30444357	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	nsv884072	chr6:30433611-30447987	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 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	chr6:30431400-30434000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
3	chr6:30431600-30434200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:30431600-30434200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:30431800-30434200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr6:30431800-30434400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr6:30432000-30434000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
8	chr6:30432000-30434000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:30432000-30434200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr6:30432000-30434200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
11	chr6:30432200-30434200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
12	chr6:30432200-30434200	Weak transcription	Gastric	stomach
13	chr6:30432400-30434000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
14	chr6:30432600-30434000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:30432800-30434400	Enhancers	Spleen	Spleen
16	chr6:30433000-30434200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
17	chr6:30433200-30434000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:30433200-30434200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
19	chr6:30433200-30434800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr6:30433400-30434000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:30433600-30434000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:30433600-30434000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
23	chr6:30433600-30434000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
24	chr6:30433600-30434200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
25	chr6:30433800-30434000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:30433800-30434000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:30433800-30434000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:30433800-30434000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
29	chr6:30433800-30434000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
30	chr6:30433800-30434000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:30433800-30434000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:30433800-30434000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
33	chr6:30433800-30434000	Enhancers	Aorta	Aorta
34	chr6:30433800-30434000	Bivalent Enhancer	Brain Anterior Caudate	brain
35	chr6:30433800-30434000	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
36	chr6:30433800-30434000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
37	chr6:30433800-30434000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr6:30433800-30434000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
39	chr6:30433800-30434000	Bivalent Enhancer	Left Ventricle	heart
40	chr6:30433800-30434000	Enhancers	Pancreas	Pancrea
41	chr6:30433800-30434000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
42	chr6:30433800-30434000	Active TSS	Right Ventricle	heart
43	chr6:30433800-30434000	Bivalent Enhancer	A549	lung
44	chr6:30433800-30434000	Bivalent Enhancer	HepG2	liver
45	chr6:30433800-30434000	Bivalent Enhancer	HMEC	breast
46	chr6:30433800-30434000	Bivalent Enhancer	K562	blood
47	chr6:30433800-30434200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:30433800-30434200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
49	chr6:30433800-30434200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr6:30433800-30434200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links