Variant report

Variant	rs4427139
Chromosome Location	chr8:105602512-105602513
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	RCOR1	chr8:105602496-105602967	K562	blood:	n/a	n/a
2	POLR2A	chr8:105602471-105602873	K562	blood:	n/a	n/a
3	HA-E2F1	chr8:105601224-105602827	MCF-7	breast:	n/a	chr8:105601463-105601473 chr8:105601485-105601499 chr8:105601488-105601502
4	HEY1	chr8:105602499-105602837	K562	blood:	n/a	n/a
5	MAX	chr8:105600832-105602664	MCF-7	breast:	n/a	chr8:105601356-105601365
6	ZNF263	chr8:105600850-105602812	HEK293-T-REx	kidney:	n/a	chr8:105601304-105601313 chr8:105601311-105601320
7	BHLHE40	chr8:105600996-105602619	K562	blood:	n/a	chr8:105602037-105602053
8	POLR2A	chr8:105596596-105602930	K562	blood:	n/a	n/a
9	POLR2A	chr8:105600954-105602849	K562	blood:	n/a	n/a
10	POLR2A	chr8:105602511-105602810	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:105600315-105602882	K562	blood:	n/a	n/a
12	CBX3	chr8:105601843-105603096	K562	blood:	n/a	n/a
13	POLR2A	chr8:105602489-105602880	K562	blood:	n/a	n/a
14	MXI1	chr8:105599894-105602519	IMR90	lung:	n/a	n/a
15	MXI1	chr8:105598816-105602682	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr8:105600122-105602817	K562	blood:	n/a	n/a
17	POLR2A	chr8:105600205-105602669	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:105599361..105601982-chr8:105602248..105604776,3	MCF-7	breast:

Variant related genes	Relation type
LRP12	TF binding region
ENSG00000253350	TF binding region
ENSG00000147650	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs35163714	1.00[AMR][1000 genomes]
rs57061880	1.00[AMR][1000 genomes]
rs57149580	1.00[AMR][1000 genomes]
rs59042845	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59429525	1.00[AMR][1000 genomes]
rs60616186	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61148214	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61360760	1.00[AMR][1000 genomes]
rs73293290	1.00[AMR][1000 genomes]
rs73293292	1.00[AMR][1000 genomes]
rs73293298	1.00[AMR][1000 genomes]
rs73295103	1.00[AMR][1000 genomes]
rs73295113	1.00[AMR][1000 genomes]
rs73295116	1.00[AMR][1000 genomes]
rs73295148	1.00[AMR][1000 genomes]
rs73295155	1.00[AMR][1000 genomes]
rs73295157	1.00[AMR][1000 genomes]
rs73295168	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295174	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295188	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297103	1.00[AMR][1000 genomes]
rs73297116	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297130	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297134	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297137	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297149	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7813481	1.00[AMR][1000 genomes]
rs7832864	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3369954	chr8:105600126-105602924	Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105600000-105602600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:105600000-105602600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:105600000-105602600	Active TSS	Fetal Lung	lung
4	chr8:105600000-105602800	Active TSS	Thymus	Thymus
5	chr8:105600400-105602600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:105601800-105602600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr8:105601800-105602600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr8:105601800-105602600	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr8:105601800-105602600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr8:105601800-105602600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr8:105601800-105602800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr8:105601800-105602800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:105602000-105602600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:105602000-105602600	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr8:105602000-105602600	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr8:105602000-105602800	Flanking Active TSS	Dnd41	blood
17	chr8:105602000-105603000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
18	chr8:105602000-105605600	Weak transcription	Small Intestine	intestine
19	chr8:105602200-105602600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:105602200-105602600	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr8:105602200-105602600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr8:105602200-105602600	Flanking Active TSS	A549	lung
23	chr8:105602200-105602600	Flanking Active TSS	K562	blood
24	chr8:105602200-105602800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr8:105602400-105602600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:105602400-105602600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
27	chr8:105602400-105602600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
28	chr8:105602400-105602600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr8:105602400-105602600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
30	chr8:105602400-105602600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr8:105602400-105602600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:105602400-105602600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:105602400-105602600	Enhancers	Colon Smooth Muscle	Colon
34	chr8:105602400-105602600	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr8:105602400-105602600	Enhancers	Fetal Heart	heart
36	chr8:105602400-105602600	Bivalent/Poised TSS	Fetal Kidney	kidney
37	chr8:105602400-105602600	Flanking Active TSS	Fetal Thymus	thymus
38	chr8:105602400-105602600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr8:105602400-105602600	Enhancers	NHLF	lung
40	chr8:105602400-105602800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:105602400-105602800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:105602400-105602800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:105602400-105602800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:105602400-105606000	Weak transcription	HUVEC	blood vessel
45	chr8:105602400-105607600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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