Variant report

Variant	rs7981114
Chromosome Location	chr13:48668410-48668411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:48667865..48670263-chr13:48806295..48809101,2	MCF-7	breast:
2	chr13:48611722..48613362-chr13:48667186..48669052,2	K562	blood:
3	chr13:48667088..48669248-chr13:48807095..48809011,2	K562	blood:
4	chr13:48651976..48654376-chr13:48667767..48670618,2	K562	blood:

Variant related genes	Relation type
ENSG00000136143	Chromatin interaction
ENSG00000136146	Chromatin interaction
ENSG00000136156	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs12584652	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1327655	0.84[EUR][1000 genomes]
rs17350996	1.00[CEU][hapmap];0.80[JPT][hapmap];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17425881	1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap]
rs2025865	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2296573	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap]
rs35299472	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3809330	0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4941627	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4942742	0.81[EUR][1000 genomes]
rs4942743	0.88[EUR][1000 genomes]
rs4942747	0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs4942749	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4942750	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4942751	0.88[EUR][1000 genomes]
rs4942752	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6561434	0.88[EUR][1000 genomes]
rs7317431	0.84[EUR][1000 genomes]
rs7317860	0.91[JPT][hapmap]
rs7318704	0.84[EUR][1000 genomes]
rs7322766	0.84[EUR][1000 genomes]
rs7323969	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7330472	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7331900	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7332326	0.87[EUR][1000 genomes]
rs7333247	0.83[EUR][1000 genomes]
rs7334463	0.85[JPT][hapmap]
rs7338844	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7338999	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7339370	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7986400	0.88[EUR][1000 genomes]
rs7990060	0.88[EUR][1000 genomes]
rs9285165	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316346	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9316347	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9316348	0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs9316349	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316352	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9316353	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9316354	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9316355	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9316356	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9316357	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9316358	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9316359	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9316360	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9562800	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9562806	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9562808	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9567979	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9567993	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9567999	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9568000	0.84[EUR][1000 genomes]
rs9568001	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9568002	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9568003	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9568004	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9568005	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9568006	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9568008	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9568009	0.87[EUR][1000 genomes]
rs9568010	0.84[EUR][1000 genomes]
rs9568015	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9591135	0.88[EUR][1000 genomes]
rs9591138	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9591139	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9591140	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9595835	0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs9595836	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9595837	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9595843	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9595852	0.81[AMR][1000 genomes]

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	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7981114	MED4	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48666800-48668600	Flanking Active TSS	Dnd41	blood
2	chr13:48666800-48669400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr13:48667000-48668600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr13:48667000-48669400	Active TSS	K562	blood
5	chr13:48667200-48668600	Flanking Active TSS	Hela-S3	cervix
6	chr13:48667400-48668600	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr13:48667600-48668600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:48667600-48668600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:48667600-48668600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr13:48667600-48668600	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr13:48667600-48668600	Flanking Active TSS	Rectal Smooth Muscle	rectum
12	chr13:48667600-48668600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr13:48667600-48668600	Flanking Active TSS	HMEC	breast
14	chr13:48667600-48668600	Flanking Active TSS	NH-A	brain
15	chr13:48667600-48668600	Flanking Active TSS	Osteobl	bone
16	chr13:48667600-48668800	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr13:48667600-48668800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr13:48667600-48668800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr13:48667600-48668800	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr13:48667600-48668800	Flanking Active TSS	Fetal Thymus	thymus
21	chr13:48667600-48668800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr13:48667600-48669400	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr13:48667600-48669600	Active TSS	A549	lung
24	chr13:48667600-48670000	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr13:48667800-48668600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr13:48667800-48668600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr13:48667800-48668600	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr13:48667800-48668600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr13:48667800-48668600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr13:48667800-48668600	Flanking Active TSS	HUVEC	blood vessel
31	chr13:48667800-48668600	Flanking Active TSS	NHEK	skin
32	chr13:48667800-48668800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr13:48667800-48668800	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr13:48667800-48668800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr13:48667800-48668800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr13:48667800-48669200	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr13:48667800-48669400	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr13:48667800-48669400	Active TSS	NHLF	lung
39	chr13:48667800-48669600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr13:48667800-48669600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr13:48667800-48669600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr13:48667800-48669600	Active TSS	Right Atrium	heart
43	chr13:48667800-48669600	Active TSS	Right Ventricle	heart
44	chr13:48668000-48668600	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr13:48668000-48668600	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr13:48668000-48668600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr13:48668000-48668600	Flanking Active TSS	Fetal Heart	heart
48	chr13:48668000-48668600	Flanking Active TSS	Thymus	Thymus
49	chr13:48668000-48668800	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr13:48668000-48668800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links