Variant report

Variant	rs376600496
Chromosome Location	chr1:185013818-185013819
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr1:185013647-185015660	K562	blood:	n/a	chr1:185014790-185014799
2	POLR2A	chr1:185013744-185013924	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr1:185013761-185016879	SK-N-SH	brain:	n/a	n/a
4	CEBPB	chr1:185013576-185013872	K562	blood:	n/a	n/a
5	MYC	chr1:185013714-185014257	MCF10A-Er-Src	breast:	n/a	n/a
6	E2F6	chr1:185013601-185015698	H1-hESC	embryonic stem cell:	n/a	chr1:185014577-185014589 chr1:185014791-185014800 chr1:185015135-185015144 chr1:185014549-185014558
7	MAZ	chr1:185013801-185015753	IMR90	lung:	n/a	n/a
8	IRF1	chr1:185013658-185013882	K562	blood:	n/a	n/a
9	RCOR1	chr1:185013628-185015659	K562	blood:	n/a	n/a
10	MYC	chr1:185013804-185015678	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:185013789-185013839	Jurkat	blood:	n/a
2	chr1:185013789-185013839	ECC-1	luminal epithelium:	n/a
3	chr1:185013789-185013839	RPTEC	kidney:	n/a
4	chr1:185013789-185013839	SKMC	muscle:	n/a
5	chr1:185013789-185013839	MCF-7	breast:	n/a
6	chr1:185013789-185013839	Hela-S3	cervix:	n/a
7	chr1:185013789-185013839	BE2_C	brain:	n/a
8	chr1:185013789-185013839	NB4	blood:	n/a
9	chr1:185013789-185013839	K562	blood:	n/a
10	chr1:185013789-185013839	ovcar-3	ovarian:	n/a
11	chr1:185013789-185013839	GM12878	blood:	n/a
12	chr1:185013789-185013839	HRPEpiC	eye:	n/a
13	chr1:185013789-185013839	AG09319	gingival:	n/a
14	chr1:185013789-185013839	T-47D	breast:	n/a
15	chr1:185013789-185013839	HEK293	kidney:	embryo
16	chr1:185013789-185013839	HRE	kidney:	n/a
17	chr1:185013789-185013839	AG04449	skin:	fetal
18	chr1:185013789-185013839	HepG2	liver:	n/a
19	chr1:185013789-185013839	U87	brain:	n/a
20	chr1:185013789-185013839	HCF	heart:	n/a
21	chr1:185013789-185013839	HIPEpiC	eye:	n/a
22	chr1:185013789-185013839	PFSK-1	brain:	n/a
23	chr1:185013789-185013839	A549	lung:	n/a
24	chr1:185013789-185013839	HCT-116	colon:	n/a
25	chr1:185013789-185013839	HEEpiC	esophagus:	n/a
26	chr1:185013789-185013839	LNCaP	prostate:	n/a
27	chr1:185013789-185013839	GM19239	blood:	n/a
28	chr1:185013789-185013839	SAEC	small airway:	n/a
29	chr1:185013789-185013839	SK-N-MC	brain:	n/a
30	chr1:185013789-185013839	HPAEpiC	pulmonary alveolar:	n/a
31	chr1:185013789-185013839	SK-N-SH	brain:	n/a
32	chr1:185013789-185013839	AG04450	lung:	fetal
33	chr1:185013789-185013839	AoSMC	blood vessel:	n/a
34	chr1:185013789-185013839	HCPEpiC	choroid plexus:	n/a
35	chr1:185013789-185013839	AG10803	skin:	n/a
36	chr1:185013789-185013839	Hepatocyte	liver:	n/a
37	chr1:185013789-185013839	PANC-1	pancreas:	n/a
38	chr1:185013789-185013839	NT2-D1	testis:	n/a
39	chr1:185013789-185013839	Caco-2	colon:	n/a
40	chr1:185013789-185013839	HMEC	breast:	n/a
41	chr1:185013789-185013839	NHDF-neo	bronchial:	n/a
42	chr1:185013789-185013839	CMK	blood:	n/a
43	chr1:185013789-185013839	SK-N-SH_RA	brain:	n/a
44	chr1:185013789-185013839	AG09309	skin:	n/a
45	chr1:185013789-185013839	ProgFib	skin:	n/a
46	chr1:185013789-185013839	HUVEC	blood vessel:	n/a
47	chr1:185013789-185013839	NHBE	bronchial:	n/a
48	chr1:185013789-185013839	GM12892	blood:	n/a
49	chr1:185013789-185013839	HL-60	blood:	n/a
50	chr1:185013789-185013839	IMR90	lung:	fetal

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:185012738..185016714-chr1:185123889..185127545,9	K562	blood:
2	chr1:184941138..184943515-chr1:185012025..185014366,2	K562	blood:
3	chr1:185012738..185017820-chr1:185123187..185127311,9	K562	blood:

No data

Variant related genes	Relation type
RNF2	TF binding region
RNF2	CpG island
ENSG00000116668	Chromatin interaction
ENSG00000121486	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv947340	chr1:185012848-185017415	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
5	esv3421775	chr1:185013354-185016202	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185010200-185014000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:185010200-185014000	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:185010600-185014000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:185010600-185014000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:185010600-185014000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr1:185011000-185014000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:185011000-185014000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:185012200-185014000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:185012800-185014000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:185013000-185014000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr1:185013400-185014000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:185013600-185014000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr1:185013600-185014000	Enhancers	Primary B cells from peripheral blood	blood
14	chr1:185013600-185014000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr1:185013600-185014000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:185013600-185014000	Active TSS	Fetal Kidney	kidney
17	chr1:185013600-185014000	Enhancers	Fetal Stomach	stomach
18	chr1:185013600-185014000	Active TSS	NHDF-Ad	bronchial
19	chr1:185013600-185016000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr1:185013600-185016200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:185013800-185014000	Enhancers	Primary T cells fromperipheralblood	blood
22	chr1:185013800-185014000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:185013800-185014000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr1:185013800-185014000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr1:185013800-185014000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:185013800-185014000	Enhancers	Adipose Nuclei	Adipose
27	chr1:185013800-185014000	Enhancers	Brain Anterior Caudate	brain
28	chr1:185013800-185014000	Enhancers	A549	lung
29	chr1:185013800-185014200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:185013800-185014200	Flanking Active TSS	Fetal Intestine Small	intestine
31	chr1:185013800-185014200	Flanking Active TSS	HepG2	liver
32	chr1:185013800-185014400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr1:185013800-185014400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr1:185013800-185014400	Flanking Active TSS	K562	blood
35	chr1:185013800-185015400	Active TSS	Duodenum Mucosa	Duodenum
36	chr1:185013800-185015400	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr1:185013800-185015400	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr1:185013800-185015600	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr1:185013800-185015800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:185013800-185015800	Active TSS	Fetal Lung	lung
41	chr1:185013800-185016200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:185013800-185016200	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr1:185013800-185016600	Active TSS	GM12878-XiMat	blood
44	chr1:185013800-185017000	Active TSS	NHLF	lung

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