Variant report

Variant	rs148003858
Chromosome Location	chr1:70821470-70821471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:70819053-70821497	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:70686799..70688622-chr1:70819236..70822047,3	K562	blood:
2	chr1:70670191..70673421-chr1:70819814..70822311,3	K562	blood:
3	chr1:70819015..70821620-chr1:70875663..70878848,3	MCF-7	breast:
4	chr1:70819013..70822302-chr1:70824014..70829303,9	MCF-7	breast:
5	chr1:70685799..70687948-chr1:70819964..70821804,2	MCF-7	breast:
6	chr1:70686924..70688596-chr1:70820161..70821739,2	MCF-7	breast:
7	chr1:70814842..70821925-chr1:70874223..70879265,8	K562	blood:
8	chr1:70818087..70822177-chr1:70874224..70879265,8	K562	blood:

No data

Variant related genes	Relation type
ANKRD13C	TF binding region
ENSG00000116754	Chromatin interaction
ENSG00000066557	Chromatin interaction
ENSG00000116761	Chromatin interaction
ENSG00000228988	Chromatin interaction
ENSG00000226088	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	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv1012563	chr1:70753332-70832118	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv1801665	chr1:70755511-70832053	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv830137	chr1:70765921-70958718	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
5	esv11736	chr1:70820591-70825114	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70817600-70821600	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:70817600-70822000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:70818000-70821800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:70821000-70822000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr1:70821000-70822400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:70821000-70824000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:70821000-70827600	Weak transcription	HSMM	muscle
8	chr1:70821000-70835200	Weak transcription	Pancreas	Pancrea
9	chr1:70821000-70836400	Weak transcription	Left Ventricle	heart
10	chr1:70821000-70838400	Weak transcription	Lung	lung
11	chr1:70821200-70821600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:70821200-70821600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr1:70821200-70821600	Enhancers	Fetal Muscle Trunk	muscle
14	chr1:70821200-70821600	Enhancers	Fetal Muscle Leg	muscle
15	chr1:70821200-70821600	Enhancers	Spleen	Spleen
16	chr1:70821200-70821800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr1:70821200-70821800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr1:70821200-70821800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr1:70821200-70822000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr1:70821200-70822000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:70821200-70822000	Enhancers	Brain Substantia Nigra	brain
22	chr1:70821200-70822000	Enhancers	Fetal Heart	heart
23	chr1:70821200-70822400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr1:70821200-70823800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:70821200-70824200	Weak transcription	HMEC	breast
26	chr1:70821200-70824200	Weak transcription	NHLF	lung
27	chr1:70821200-70824400	Weak transcription	NHEK	skin
28	chr1:70821200-70824600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:70821200-70827600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr1:70821200-70828000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:70821200-70829600	Weak transcription	Fetal Intestine Small	intestine
32	chr1:70821200-70832000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr1:70821200-70833600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:70821200-70835200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:70821200-70836800	Weak transcription	Fetal Stomach	stomach
36	chr1:70821200-70841400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr1:70821400-70821600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:70821400-70821600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr1:70821400-70821600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:70821400-70821600	Enhancers	Stomach Smooth Muscle	stomach
41	chr1:70821400-70821800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:70821400-70821800	Active TSS	K562	blood
43	chr1:70821400-70822000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:70821400-70822000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:70821400-70822000	Enhancers	Brain Anterior Caudate	brain
46	chr1:70821400-70822000	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr1:70821400-70822000	Enhancers	Dnd41	blood
48	chr1:70821400-70822000	Enhancers	GM12878-XiMat	blood
49	chr1:70821400-70822000	Enhancers	Hela-S3	cervix
50	chr1:70821400-70822200	Enhancers	HepG2	liver

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