Variant report

Variant	rs371850909
Chromosome Location	chr1:246954412-246954413
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:1)
LncRNA
region (count:3)
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	ZNF263	chr1:246954026-246954510	HEK293-T-REx	kidney:	n/a	chr1:246954287-246954308
2	POLR2A	chr1:246952019-246955465	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:246954397-246954447	HepG2	liver:	n/a
2	chr1:246954397-246954447	CMK	blood:	n/a
3	chr1:246954397-246954447	NHDF-neo	bronchial:	n/a
4	chr1:246954397-246954447	NHBE	bronchial:	n/a
5	chr1:246954397-246954447	SK-N-MC	brain:	n/a
6	chr1:246954397-246954447	GM12891	blood:	n/a
7	chr1:246954397-246954447	Caco-2	colon:	n/a
8	chr1:246954397-246954447	Hepatocyte	liver:	n/a
9	chr1:246954397-246954447	HPAEpiC	pulmonary alveolar:	n/a
10	chr1:246954397-246954447	HUVEC	blood vessel:	n/a
11	chr1:246954397-246954447	BE2_C	brain:	n/a
12	chr1:246954397-246954447	ECC-1	luminal epithelium:	n/a
13	chr1:246954397-246954447	AG04450	lung:	fetal
14	chr1:246954397-246954447	K562	blood:	n/a
15	chr1:246954397-246954447	HEK293	kidney:	embryo
16	chr1:246954397-246954447	HAEpiC	amniotic membrane:	n/a
17	chr1:246954397-246954447	MCF-7	breast:	n/a
18	chr1:246954397-246954447	HIPEpiC	eye:	n/a
19	chr1:246954397-246954447	HRE	kidney:	n/a
20	chr1:246954397-246954447	HRCEpiC	kidney:	n/a
21	chr1:246954397-246954447	GM19239	blood:	n/a
22	chr1:246954397-246954447	Hela-S3	cervix:	n/a
23	chr1:246954397-246954447	AG04449	skin:	fetal
24	chr1:246954397-246954447	AG09309	skin:	n/a
25	chr1:246954397-246954447	NB4	blood:	n/a
26	chr1:246954397-246954447	SKMC	muscle:	n/a
27	chr1:246954397-246954447	GM12878	blood:	n/a
28	chr1:246954397-246954447	RPTEC	kidney:	n/a
29	chr1:246954397-246954447	SK-N-SH_RA	brain:	n/a
30	chr1:246954397-246954447	Jurkat	blood:	n/a
31	chr1:246954397-246954447	LNCaP	prostate:	n/a
32	chr1:246954397-246954447	A549	lung:	n/a
33	chr1:246954397-246954447	AG09319	gingival:	n/a
34	chr1:246954397-246954447	HCPEpiC	choroid plexus:	n/a
35	chr1:246954397-246954447	BJ	skin:	n/a
36	chr1:246954397-246954447	T-47D	breast:	n/a
37	chr1:246954397-246954447	SAEC	small airway:	n/a
38	chr1:246954397-246954447	PrEC	prostate:	n/a
39	chr1:246954397-246954447	NH-A	brain:	n/a
40	chr1:246954397-246954447	AoSMC	blood vessel:	n/a
41	chr1:246954397-246954447	H1-hESC	embryonic stem cell:	embryo
42	chr1:246954397-246954447	HCM	heart:	n/a
43	chr1:246954397-246954447	SK-N-SH	brain:	n/a
44	chr1:246954397-246954447	PANC-1	pancreas:	n/a
45	chr1:246954397-246954447	HNPCEpiC	eye:	n/a
46	chr1:246954397-246954447	HCF	heart:	n/a
47	chr1:246954397-246954447	HEEpiC	esophagus:	n/a
48	chr1:246954397-246954447	HMEC	breast:	n/a
49	chr1:246954397-246954447	AG10803	skin:	n/a
50	chr1:246954397-246954447	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:246951287..246953566-chr1:246953954..246955878,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCCPDH-1	chr1:246953748-246954788	XLOC_000643
2	lnc-SCCPDH-1	chr1:246953748-246955687	ENSG00000227953.2
3	lnc-SCCPDH-1	chr1:246954044-246954488	NONHSAT010738

No data

Variant related genes	Relation type
KIF28P	TF binding region
KIF28P	CpG island
ENSG00000227953	Chromatin interaction
ENSG00000223519	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers 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	52 gene(s)	inside rSNPs	diseases
6	nsv430413	chr1:246845971-246975015	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS 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	16 gene(s)	inside rSNPs	diseases
7	nsv873422	chr1:246854862-247002638	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv1006262	chr1:246892826-246964775	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv523531	chr1:246893948-246967899	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases
11	nsv999756	chr1:246894542-246969660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv1009436	chr1:246910373-246965832	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv873423	chr1:246923861-246978504	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
14	nsv549545	chr1:246936353-246963019	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv525154	chr1:246954166-246963019	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246932800-246956400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:246945800-246956400	Weak transcription	A549	lung
3	chr1:246946200-246956800	Weak transcription	Left Ventricle	heart
4	chr1:246949000-246957600	Weak transcription	NHDF-Ad	bronchial
5	chr1:246949400-246956800	Weak transcription	Hela-S3	cervix
6	chr1:246949400-246957600	Weak transcription	NHLF	lung
7	chr1:246951200-246954800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:246952600-246956000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:246952600-246956800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:246952600-246957600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:246952600-246957800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:246952800-246956600	Weak transcription	Placenta	Placenta
13	chr1:246952800-246956800	Weak transcription	Fetal Intestine Large	intestine
14	chr1:246952800-246957000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:246952800-246957000	Weak transcription	Brain Germinal Matrix	brain
16	chr1:246952800-246957600	Weak transcription	Fetal Brain Female	brain
17	chr1:246952800-246957800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr1:246953000-246956800	Weak transcription	Fetal Brain Male	brain
19	chr1:246953000-246957600	Weak transcription	Fetal Heart	heart
20	chr1:246953000-246957600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:246953000-246957600	Weak transcription	Right Ventricle	heart
22	chr1:246953000-246957800	Weak transcription	Fetal Intestine Small	intestine
23	chr1:246953200-246956800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:246953200-246957600	Weak transcription	Spleen	Spleen
25	chr1:246953400-246955400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:246953400-246956200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:246953400-246956400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:246953400-246956400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:246953400-246956400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:246953400-246956400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:246953400-246956600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:246953400-246956600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:246953400-246956800	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:246953400-246957000	Weak transcription	Gastric	stomach
35	chr1:246953400-246957600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:246953400-246957600	Weak transcription	Fetal Lung	lung
37	chr1:246953400-246957600	Weak transcription	Ovary	ovary
38	chr1:246953400-246958000	Weak transcription	Fetal Kidney	kidney
39	chr1:246953400-246961600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:246953600-246955600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:246953600-246956800	Weak transcription	Fetal Stomach	stomach
42	chr1:246954000-246956200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:246954200-246954600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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