Variant report

Variant	rs2703059
Chromosome Location	chr12:45268964-45268965
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2658949	0.81[AFR][1000 genomes]
rs2658976	0.87[YRI][hapmap]
rs2703036	0.87[YRI][hapmap]
rs2703052	0.86[MKK][hapmap]
rs2710427	0.87[YRI][hapmap]
rs61656468	1.00[AMR][1000 genomes]
rs73279147	1.00[AMR][1000 genomes]
rs73279183	1.00[AMR][1000 genomes]
rs984753	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832394	chr12:45077573-45269305	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
2	nsv1036926	chr12:45131884-45273648	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	nsv541484	chr12:45131884-45273648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45263000-45269000	Active TSS	Fetal Brain Female	brain
2	chr12:45264800-45271200	Active TSS	Fetal Brain Male	brain
3	chr12:45266000-45270600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
4	chr12:45266400-45269200	Active TSS	Brain Anterior Caudate	brain
5	chr12:45266800-45269200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr12:45266800-45270800	Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr12:45267000-45269200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr12:45267200-45271000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:45267200-45271400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:45267800-45271000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
11	chr12:45268000-45270000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr12:45268000-45270800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:45268000-45270800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:45268000-45271000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:45268000-45271200	Active TSS	H9 Cell Line	embryonic stem cell
16	chr12:45268200-45269000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:45268200-45271200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr12:45268400-45269200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr12:45268400-45269200	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:45268400-45269400	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:45268400-45269600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:45268600-45269000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:45268600-45269000	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr12:45268600-45269000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
25	chr12:45268600-45269000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
26	chr12:45268600-45269200	Active TSS	Fetal Intestine Large	intestine
27	chr12:45268600-45269400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:45268600-45269400	Bivalent/Poised TSS	Fetal Kidney	kidney
29	chr12:45268600-45269600	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
30	chr12:45268600-45269600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
31	chr12:45268600-45269800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr12:45268600-45270000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
33	chr12:45268600-45270400	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr12:45268600-45270400	Active TSS	Right Atrium	heart
35	chr12:45268600-45270600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:45268600-45271000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:45268600-45271200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr12:45268800-45269000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr12:45268800-45269000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr12:45268800-45269000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
41	chr12:45268800-45269000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
42	chr12:45268800-45269000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr12:45268800-45269000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:45268800-45269000	Bivalent Enhancer	Liver	Liver
45	chr12:45268800-45269000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
46	chr12:45268800-45269000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
47	chr12:45268800-45269000	Bivalent/Poised TSS	Colonic Mucosa	Colon
48	chr12:45268800-45269000	Enhancers	Pancreas	Pancrea
49	chr12:45268800-45269000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
50	chr12:45268800-45269000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links