Variant report

Variant	rs235992
Chromosome Location	chr16:71289769-71289770
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71284904..71287123-chr16:71289658..71291171,2	MCF-7	breast:
2	chr16:71287182..71289773-chr16:71380797..71383659,2	MCF-7	breast:
3	chr16:71288537..71290996-chr16:71299715..71301664,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11643408	0.91[ASN][1000 genomes]
rs11645087	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11648802	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12924136	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12925681	0.91[ASN][1000 genomes]
rs146873	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs171016	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17270785	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173128	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17343100	0.91[ASN][1000 genomes]
rs1834044	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs184647	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235989	0.80[EUR][1000 genomes]
rs235995	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235998	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236003	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236007	0.80[EUR][1000 genomes]
rs236008	0.80[EUR][1000 genomes]
rs236009	0.80[EUR][1000 genomes]
rs236011	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236014	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236015	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs236016	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3094446	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3114641	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34036373	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34364189	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34395100	0.91[ASN][1000 genomes]
rs34399179	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34538430	0.91[ASN][1000 genomes]
rs34907542	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35052014	0.91[ASN][1000 genomes]
rs35157832	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35269005	1.00[ASN][1000 genomes]
rs35794600	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35897488	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs370875	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3743950	0.95[ASN][1000 genomes]
rs430445	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs434108	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443889	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446245	0.89[EUR][1000 genomes]
rs66510446	0.91[ASN][1000 genomes]
rs67275961	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71403844	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72795758	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72795760	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72795777	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers 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	38 gene(s)	inside rSNPs	diseases
2	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv482374	chr16:71228600-71401617	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1860	chr16:71269156-71313852	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71288000-71291000	Enhancers	Fetal Muscle Leg	muscle
2	chr16:71288200-71290200	Enhancers	Fetal Brain Male	brain
3	chr16:71288200-71290400	Enhancers	Brain Germinal Matrix	brain
4	chr16:71288400-71290000	Enhancers	Primary B cells from cord blood	blood
5	chr16:71288400-71290400	Enhancers	Fetal Brain Female	brain
6	chr16:71288600-71289800	Enhancers	Fetal Lung	lung
7	chr16:71288600-71290000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr16:71288600-71290000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr16:71288600-71290200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr16:71288600-71290200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr16:71288600-71290200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:71288600-71290200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr16:71288600-71290800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr16:71288800-71289800	Enhancers	Primary B cells from peripheral blood	blood
15	chr16:71288800-71289800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:71288800-71290000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr16:71288800-71290000	Enhancers	Fetal Stomach	stomach
18	chr16:71288800-71290200	Enhancers	Brain Angular Gyrus	brain
19	chr16:71288800-71290200	Enhancers	Brain Anterior Caudate	brain
20	chr16:71288800-71290200	Enhancers	Brain Cingulate Gyrus	brain
21	chr16:71288800-71290400	Enhancers	HSMMtube	muscle
22	chr16:71289000-71289800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:71289000-71289800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr16:71289000-71290000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr16:71289000-71290000	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr16:71289000-71290000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr16:71289000-71290000	Enhancers	Adipose Nuclei	Adipose
28	chr16:71289000-71290000	Enhancers	Fetal Muscle Trunk	muscle
29	chr16:71289000-71290000	Enhancers	Fetal Thymus	thymus
30	chr16:71289000-71290200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr16:71289000-71290200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr16:71289000-71290200	Enhancers	HSMM	muscle
33	chr16:71289200-71289800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr16:71289200-71289800	Enhancers	Fetal Kidney	kidney
35	chr16:71289200-71290200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr16:71289600-71289800	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr16:71289600-71289800	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr16:71289600-71289800	Enhancers	GM12878-XiMat	blood
39	chr16:71289600-71290000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:71289600-71290200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr16:71289600-71290200	Enhancers	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links