Variant report

Variant	rs9887811
Chromosome Location	chr1:85744370-85744371
allele	A/G
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	JUND	chr1:85744329-85745186	HCT-116	colon:	n/a	chr1:85744732-85744739 chr1:85744621-85744630 chr1:85744747-85744758 chr1:85744731-85744739
2	TEAD4	chr1:85744328-85745031	K562	blood:	n/a	n/a
3	PBX3	chr1:85744331-85745079	SK-N-SH	brain:	n/a	n/a
4	JUND	chr1:85744322-85745112	SK-N-SH	brain:	n/a	chr1:85744732-85744739 chr1:85744621-85744630 chr1:85744747-85744758 chr1:85744731-85744739
5	GATA3	chr1:85744342-85745131	SK-N-SH	brain:	n/a	chr1:85744620-85744630 chr1:85744486-85744497 chr1:85744596-85744603
6	SP1	chr1:85744309-85745181	HCT-116	colon:	n/a	chr1:85744679-85744700
7	TCF12	chr1:85744313-85745100	SK-N-SH	brain:	n/a	n/a
8	FOSL1	chr1:85744325-85745062	HCT-116	colon:	n/a	chr1:85744729-85744740 chr1:85744747-85744758 chr1:85744732-85744739 chr1:85744621-85744630 chr1:85744731-85744739
9	GATA3	chr1:85744303-85745020	A549	lung:	n/a	chr1:85744620-85744630 chr1:85744486-85744497 chr1:85744596-85744603
10	FOSL1	chr1:85744351-85745217	HCT-116	colon:	n/a	chr1:85744729-85744740 chr1:85744747-85744758 chr1:85744732-85744739 chr1:85744621-85744630 chr1:85744731-85744739
11	JUND	chr1:85744309-85745294	SK-N-SH	brain:	n/a	chr1:85744732-85744739 chr1:85744621-85744630 chr1:85744747-85744758 chr1:85744731-85744739
12	JUND	chr1:85744324-85745112	SK-N-SH	brain:	n/a	chr1:85744732-85744739 chr1:85744621-85744630 chr1:85744747-85744758 chr1:85744731-85744739
13	POLR2A	chr1:85744278-85745155	U87	brain:	n/a	n/a
14	SIN3AK20	chr1:85744318-85745121	MCF-7	breast:	n/a	n/a
15	POLR2A	chr1:85744335-85745541	HUVEC	blood vessel:	n/a	n/a
16	EP300	chr1:85744321-85745072	SK-N-SH	brain:	n/a	n/a
17	GATA3	chr1:85744323-85745035	MCF-7	breast:	n/a	chr1:85744620-85744630 chr1:85744486-85744497 chr1:85744596-85744603
18	JUND	chr1:85744318-85745124	HCT-116	colon:	n/a	chr1:85744732-85744739 chr1:85744621-85744630 chr1:85744747-85744758 chr1:85744731-85744739
19	NR2F2	chr1:85744290-85745015	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:85742187..85745018-chr1:85749555..85753087,3	K562	blood:
2	chr1:85722628..85726570-chr1:85740869..85744448,4	MCF-7	breast:
3	chr1:85743465..85746291-chr1:85746776..85749038,2	MCF-7	breast:
4	chr1:85741905..85744580-chr1:85747619..85751624,6	K562	blood:
5	chr1:85739584..85746681-chr1:86042287..86049012,10	K562	blood:

Variant related genes	Relation type
BCL10	TF binding region
ENSG00000272691	Chromatin interaction
ENSG00000153904	Chromatin interaction
ENSG00000264380	Chromatin interaction
ENSG00000162642	Chromatin interaction
ENSG00000142871	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1060843	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161564	0.94[ASN][1000 genomes]
rs11161581	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11161583	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12065528	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12066982	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12068389	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12068788	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12084232	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12086970	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12087340	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12562182	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12563515	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12726649	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12743302	0.94[ASN][1000 genomes]
rs12744565	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12746169	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17124345	0.94[ASN][1000 genomes]
rs35486093	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35783363	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35798604	0.94[ASN][1000 genomes]
rs36116171	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4074156	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4258258	0.94[ASN][1000 genomes]
rs6693229	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9887812	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9887879	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85742200-85744600	Weak transcription	Gastric	stomach
2	chr1:85742200-85744800	Weak transcription	Spleen	Spleen
3	chr1:85742800-85744400	Weak transcription	Small Intestine	intestine
4	chr1:85742800-85744600	Weak transcription	Pancreas	Pancrea
5	chr1:85742800-85744600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:85742800-85744600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:85742800-85763000	Weak transcription	Ovary	ovary
8	chr1:85743000-85744400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:85743000-85744400	Weak transcription	HSMM	muscle
10	chr1:85743000-85744400	Weak transcription	HSMMtube	muscle
11	chr1:85743000-85744400	Weak transcription	K562	blood
12	chr1:85743000-85744400	Weak transcription	NHLF	lung
13	chr1:85743000-85744600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:85743000-85744600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:85743000-85744600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:85743000-85744600	Weak transcription	Fetal Kidney	kidney
17	chr1:85743000-85744600	Enhancers	HUVEC	blood vessel
18	chr1:85743000-85744800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr1:85743000-85745400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:85743000-85746000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr1:85743000-85747400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:85743000-85749200	Weak transcription	Fetal Stomach	stomach
23	chr1:85743000-85749200	Weak transcription	Psoas Muscle	Psoas
24	chr1:85743000-85773600	Weak transcription	Right Atrium	heart
25	chr1:85743200-85744400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:85743200-85744400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:85743200-85744400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:85743200-85744400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:85743200-85744400	Weak transcription	Liver	Liver
30	chr1:85743200-85744400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr1:85743200-85744400	Weak transcription	Fetal Intestine Large	intestine
32	chr1:85743200-85744400	Weak transcription	Stomach Mucosa	stomach
33	chr1:85743200-85744400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr1:85743200-85744400	Weak transcription	NH-A	brain
35	chr1:85743200-85744400	Weak transcription	NHDF-Ad	bronchial
36	chr1:85743200-85744400	Weak transcription	Osteobl	bone
37	chr1:85743200-85744600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:85743200-85744600	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr1:85743200-85744600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:85743200-85744600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:85743200-85744600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:85743200-85744600	Enhancers	Hela-S3	cervix
43	chr1:85743200-85744800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:85743200-85744800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:85743200-85744800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr1:85743200-85744800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr1:85743200-85744800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr1:85743200-85744800	Weak transcription	Colonic Mucosa	Colon
49	chr1:85743200-85744800	Weak transcription	Esophagus	oesophagus
50	chr1:85743200-85744800	Weak transcription	Placenta	Placenta

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