Variant report

Variant	rs2046791
Chromosome Location	chr8:127838665-127838666
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:127836927..127839136-chr8:127848377..127851052,2	K562	blood:
2	chr8:127834592..127842945-chr8:128745185..128752445,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249375	Chromatin interaction
ENSG00000136997	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10089880	0.87[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10102846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10103070	0.89[EUR][1000 genomes]
rs10956327	0.85[EUR][1000 genomes]
rs10956329	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs13257258	0.91[EUR][1000 genomes]
rs1873186	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs2046790	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470474	0.85[EUR][1000 genomes]
rs6983599	0.91[EUR][1000 genomes]
rs7844928	0.91[CEU][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891438	chr8:127670339-127845702	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv1819408	chr8:127835876-127898165	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv1846092	chr8:127836077-127838825	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1848524	chr8:127836277-127838744	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:127833600-127839800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:127837200-127840000	Weak transcription	Fetal Thymus	thymus
3	chr8:127837400-127839200	Weak transcription	Placenta	Placenta
4	chr8:127837400-127839600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:127837400-127839800	Weak transcription	Fetal Stomach	stomach
6	chr8:127837400-127840000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:127837400-127840000	Weak transcription	Fetal Lung	lung
8	chr8:127837400-127840200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:127837400-127840400	Weak transcription	Left Ventricle	heart
10	chr8:127837400-127840600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:127837400-127841200	Enhancers	Fetal Heart	heart
12	chr8:127837400-127841400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:127837400-127841400	Enhancers	Fetal Muscle Leg	muscle
14	chr8:127837400-127842800	Enhancers	NHLF	lung
15	chr8:127837400-127843800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:127837600-127839600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:127837600-127839800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:127837600-127840000	Weak transcription	Fetal Intestine Small	intestine
19	chr8:127837600-127840400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:127837600-127840400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr8:127837600-127840400	Weak transcription	Right Atrium	heart
22	chr8:127837600-127841200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:127837600-127841400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:127837800-127839200	Weak transcription	NH-A	brain
25	chr8:127837800-127839600	Weak transcription	HMEC	breast
26	chr8:127837800-127840000	Weak transcription	Fetal Kidney	kidney
27	chr8:127837800-127840400	Enhancers	HSMMtube	muscle
28	chr8:127837800-127845600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:127837800-127845800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:127837800-127845800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:127838000-127839000	Weak transcription	Psoas Muscle	Psoas
32	chr8:127838000-127839200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:127838000-127839200	Weak transcription	HSMM	muscle
34	chr8:127838000-127839200	Weak transcription	HUVEC	blood vessel
35	chr8:127838000-127839200	Weak transcription	NHEK	skin
36	chr8:127838000-127839400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:127838000-127839400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:127838000-127839400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr8:127838000-127839600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:127838000-127839600	Weak transcription	Osteobl	bone
41	chr8:127838000-127840200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr8:127838000-127840200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:127838000-127840200	Weak transcription	NHDF-Ad	bronchial
44	chr8:127838000-127840400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:127838000-127845400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:127838000-127845400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:127838200-127840000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:127838200-127845400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links