Variant report

Variant	rs1168111
Chromosome Location	chr1:63158826-63158827
allele	G/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	SPI1	chr1:63158792-63159099	GM12891	blood:	n/a	n/a
2	POLR2A	chr1:63158809-63159339	HepG2	liver:	n/a	n/a
3	SPI1	chr1:63158770-63159263	HL-60	blood:	n/a	n/a
4	SPI1	chr1:63158808-63159135	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:63156083..63158075-chr1:63158423..63161249,2	K562	blood:
2	chr1:63156575..63159018-chr1:63159130..63161249,2	K562	blood:

Variant related genes	Relation type
DOCK7	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10789122	0.84[AFR][1000 genomes]
rs10889361	0.88[AFR][1000 genomes]
rs10889362	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1168110	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1168112	0.84[AFR][1000 genomes]
rs17123784	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2094491	0.85[EUR][1000 genomes]
rs2149117	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2182867	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4244157	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4244158	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4542244	0.85[EUR][1000 genomes]
rs4915623	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4915852	0.84[AFR][1000 genomes]
rs6587983	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6673434	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72915162	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74076913	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7416564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7514389	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7514753	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7526331	0.94[AFR][1000 genomes]
rs7528933	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7536775	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7538892	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs943699	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9787152	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

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	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63155800-63165000	Weak transcription	Primary T cells from cord blood	blood
2	chr1:63156400-63159400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:63156400-63170400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:63156600-63159800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:63156600-63160000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:63156600-63170400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:63156800-63159800	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:63156800-63160200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:63156800-63160400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:63156800-63160400	Weak transcription	Gastric	stomach
11	chr1:63156800-63161400	Weak transcription	Fetal Brain Female	brain
12	chr1:63157000-63159000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:63157000-63159600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:63157000-63160600	Weak transcription	Brain Substantia Nigra	brain
15	chr1:63157200-63160400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:63157200-63161000	Weak transcription	Fetal Lung	lung
17	chr1:63157400-63161200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:63157400-63170400	Weak transcription	Fetal Stomach	stomach
19	chr1:63157600-63160600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:63157600-63173000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:63157600-63180800	Weak transcription	Fetal Brain Male	brain
22	chr1:63157800-63159400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:63157800-63159600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:63157800-63167200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:63158200-63159000	Enhancers	HepG2	liver
26	chr1:63158200-63159600	Weak transcription	Fetal Intestine Small	intestine
27	chr1:63158200-63164200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:63158400-63160400	Weak transcription	Fetal Intestine Large	intestine
29	chr1:63158400-63166800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:63158600-63159200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:63158600-63159400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr1:63158800-63159400	Enhancers	Stomach Mucosa	stomach
33	chr1:63158800-63160600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:63158800-63170600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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