Variant report

Variant	rs3010785
Chromosome Location	chr1:213129663-213129664
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr1:213129475-213129999	GM12878	blood:	n/a	n/a
2	NFIC	chr1:213129242-213130140	GM12878	blood:	n/a	chr1:213129711-213129739
3	RUNX3	chr1:213129352-213129986	GM12878	blood:	n/a	n/a
4	FOXM1	chr1:213129400-213129999	GM12878	blood:	n/a	n/a
5	ZNF143	chr1:213128069-213129791	GM12878	blood:	n/a	n/a
6	MTA3	chr1:213128962-213129965	GM12878	blood:	n/a	n/a
7	MTA3	chr1:213127483-213130050	GM12878	blood:	n/a	n/a
8	EBF1	chr1:213129233-213129961	GM12878	blood:	n/a	n/a
9	SPI1	chr1:213129391-213129830	GM12878	blood:	n/a	chr1:213129655-213129668 chr1:213129519-213129528
10	PML	chr1:213129178-213130147	GM12878	blood:	n/a	n/a
11	RUNX3	chr1:213129287-213130022	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:213127766-213130103	GM12878	blood:	n/a	n/a
13	EBF1	chr1:213129564-213130011	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:213127796-213129984	GM12892	blood:	n/a	n/a
15	POLR2A	chr1:213129286-213129941	GM12878	blood:	n/a	n/a
16	IKZF1	chr1:213128038-213130109	GM12878	blood:	n/a	n/a
17	RELA	chr1:213129148-213130038	GM19099	blood:	n/a	n/a
18	TCF3	chr1:213129661-213129897	GM12878	blood:	n/a	chr1:213129803-213129816
19	CTCF	chr1:213129580-213129730	GM12873	blood:	n/a	n/a
20	POLR2A	chr1:213128117-213130315	GM12878	blood:	n/a	n/a
21	STAT5A	chr1:213129405-213129920	GM12878	blood:	n/a	chr1:213129661-213129673
22	STAT5A	chr1:213127922-213129990	GM12878	blood:	n/a	chr1:213128783-213128791 chr1:213129661-213129673 chr1:213128450-213128458 chr1:213129253-213129261
23	POLR2A	chr1:213123506-213132129	GM12878	blood:	n/a	n/a
24	EBF1	chr1:213129574-213129937	GM12878	blood:	n/a	n/a
25	WRNIP1	chr1:213128189-213129988	GM12878	blood:	n/a	n/a
26	MAZ	chr1:213129536-213130078	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:213031195..213034004-chr1:213129507..213131395,2	K562	blood:
2	chr1:213127616..213130170-chr1:213132059..213134364,2	K562	blood:
3	chr1:213109337..213110959-chr1:213129014..213131866,2	K562	blood:
4	chr1:213123028..213126732-chr1:213127921..213134327,6	K562	blood:
5	chr1:213127494..213130464-chr1:213136589..213139155,2	MCF-7	breast:

Variant related genes	Relation type
VASH2	TF binding region
ENSG00000162769	Chromatin interaction
ENSG00000143494	Chromatin interaction
ENSG00000198468	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10735511	0.82[CHB][hapmap]
rs10746440	0.82[CHB][hapmap]
rs10779598	0.82[CHB][hapmap]
rs11586518	0.82[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3010785	INTS7	cis	cerebellum	SCAN

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213125200-213132800	Weak transcription	Lung	lung
2	chr1:213125200-213134200	Weak transcription	Right Atrium	heart
3	chr1:213125600-213131000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:213125600-213131200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:213125600-213132600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:213125600-213141000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:213125800-213141000	Weak transcription	A549	lung
8	chr1:213125800-213145800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:213126000-213134000	Weak transcription	Fetal Intestine Small	intestine
10	chr1:213126200-213131200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:213126400-213129800	Genic enhancers	Fetal Muscle Trunk	muscle
12	chr1:213126400-213152400	Strong transcription	Fetal Stomach	stomach
13	chr1:213126600-213129800	Genic enhancers	Fetal Muscle Leg	muscle
14	chr1:213126600-213140600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:213126800-213130400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:213126800-213154400	Strong transcription	Fetal Brain Female	brain
17	chr1:213127000-213129800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:213127000-213130000	Genic enhancers	HSMMtube	muscle
19	chr1:213127000-213136400	Weak transcription	Fetal Brain Male	brain
20	chr1:213127000-213153200	Strong transcription	Fetal Lung	lung
21	chr1:213127200-213130400	Weak transcription	Fetal Kidney	kidney
22	chr1:213127200-213131000	Weak transcription	HSMM	muscle
23	chr1:213127200-213132600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:213127400-213131000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:213127400-213140800	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:213127600-213130400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:213127600-213131200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:213127800-213131200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:213128200-213130000	Flanking Active TSS	GM12878-XiMat	blood
30	chr1:213128400-213129800	Genic enhancers	H1 Cell Line	embryonic stem cell
31	chr1:213128400-213130600	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:213128400-213140800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:213128600-213130000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:213128600-213130000	Enhancers	Fetal Thymus	thymus
35	chr1:213128600-213131600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:213128800-213133000	Weak transcription	Fetal Intestine Large	intestine
37	chr1:213129000-213129800	Enhancers	Primary hematopoietic stem cells	blood
38	chr1:213129000-213130200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:213129000-213141600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:213129200-213129800	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr1:213129200-213130000	Genic enhancers	Brain Germinal Matrix	brain
42	chr1:213129400-213129800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr1:213129400-213129800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:213129400-213130000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:213129400-213130000	Enhancers	Thymus	Thymus
46	chr1:213129400-213134200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:213129600-213129800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr1:213129600-213129800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
49	chr1:213129600-213130000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:213129600-213130000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links