Variant report

Variant	rs6752995
Chromosome Location	chr2:128649931-128649932
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:128647856..128651047-chr2:128663842..128666452,4	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13397060	0.93[CEU][hapmap]
rs6708734	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749005	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558232	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562106	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7568998	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571272	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574303	0.93[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3368061	chr2:128375044-128672849	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv834367	chr2:128630791-128790072	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6752995	AMMECR1L	cis	parietal	SCAN
rs6752995	LOC401010	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128644400-128650600	Weak transcription	Left Ventricle	heart
2	chr2:128644400-128651000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:128644400-128651600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:128645200-128650600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:128645200-128650600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:128645400-128650000	Weak transcription	Right Atrium	heart
7	chr2:128645400-128651000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:128645400-128659000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:128645600-128650800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:128645600-128651000	Weak transcription	Aorta	Aorta
11	chr2:128645600-128651000	Weak transcription	Placenta	Placenta
12	chr2:128645800-128651400	Weak transcription	Fetal Brain Female	brain
13	chr2:128645800-128654000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:128645800-128655200	Weak transcription	K562	blood
15	chr2:128645800-128659000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:128646000-128650000	Weak transcription	Right Ventricle	heart
17	chr2:128646000-128650200	Weak transcription	Liver	Liver
18	chr2:128646000-128652400	Weak transcription	Brain Germinal Matrix	brain
19	chr2:128646000-128653000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:128646000-128654600	Weak transcription	Primary B cells from cord blood	blood
21	chr2:128646000-128658600	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:128646800-128650000	Weak transcription	HSMM	muscle
23	chr2:128647400-128651000	Weak transcription	Lung	lung
24	chr2:128647400-128658600	Weak transcription	Fetal Stomach	stomach
25	chr2:128648200-128652000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:128649000-128651200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr2:128649200-128650000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:128649200-128651400	Enhancers	Fetal Heart	heart
29	chr2:128649400-128650200	Enhancers	Fetal Muscle Leg	muscle
30	chr2:128649400-128650600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:128649600-128650000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:128649600-128650600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:128649600-128650600	Enhancers	HepG2	liver
34	chr2:128649600-128650800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:128649800-128650000	Enhancers	NHDF-Ad	bronchial
36	chr2:128649800-128651400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:128649800-128655200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr2:128649800-128655200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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