Variant report

Variant	rs2028573
Chromosome Location	chr3:191093080-191093081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:191084566..191087269-chr3:191092450..191094970,3	MCF-7	breast:
2	chr3:191089153..191091755-chr3:191092405..191093970,2	K562	blood:
3	chr3:191080948..191083585-chr3:191091535..191093381,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11918771	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12633312	0.89[CHB][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12635242	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28396104	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28627146	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60167114	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6444540	0.89[CHB][hapmap];0.83[CHD][hapmap];0.80[GIH][hapmap];0.86[ASN][1000 genomes]
rs6444542	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66809497	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67382556	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6774730	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6797930	0.89[CHB][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73185212	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7636627	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7636707	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7640087	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7648303	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs920032	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9821594	0.89[CHB][hapmap];0.80[GIH][hapmap];0.86[ASN][1000 genomes]
rs9834749	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9838011	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9838014	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9841435	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs9860740	0.89[CHB][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9985271	1.00[CEU][hapmap];0.93[CHB][hapmap];0.80[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv878107	chr3:191069984-191100073	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv592852	chr3:191073228-191093310	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv592853	chr3:191073228-191094985	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv822381	chr3:191092881-191093420	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191069800-191096000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr3:191071200-191114000	Weak transcription	Colonic Mucosa	Colon
3	chr3:191071400-191094200	Weak transcription	Small Intestine	intestine
4	chr3:191071400-191097400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:191071400-191100000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:191072600-191100800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:191074600-191094000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:191074800-191094200	Weak transcription	A549	lung
9	chr3:191075000-191097400	Weak transcription	Thymus	Thymus
10	chr3:191077600-191094200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr3:191079400-191094200	Weak transcription	Brain Anterior Caudate	brain
12	chr3:191079400-191094800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:191079400-191115800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:191079600-191099200	Weak transcription	Spleen	Spleen
15	chr3:191079600-191116400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:191079600-191121200	Weak transcription	Gastric	stomach
17	chr3:191079800-191094200	Weak transcription	Brain Substantia Nigra	brain
18	chr3:191080200-191094600	Weak transcription	Stomach Mucosa	stomach
19	chr3:191080200-191110200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:191080200-191118800	Weak transcription	Pancreas	Pancrea
21	chr3:191080600-191094200	Weak transcription	Right Ventricle	heart
22	chr3:191080600-191094400	Weak transcription	Brain Angular Gyrus	brain
23	chr3:191080600-191110400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr3:191081600-191094200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr3:191083000-191094800	Strong transcription	Liver	Liver
26	chr3:191084200-191094200	Weak transcription	Colon Smooth Muscle	Colon
27	chr3:191085000-191096000	Weak transcription	K562	blood
28	chr3:191085800-191093800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:191087000-191115400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr3:191087400-191093200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:191087800-191093800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:191087800-191100000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr3:191087800-191109200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:191088000-191094200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr3:191088000-191094400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr3:191088000-191094600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr3:191088000-191109800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr3:191088600-191093200	Weak transcription	Brain Germinal Matrix	brain
39	chr3:191088600-191094200	Weak transcription	Fetal Stomach	stomach
40	chr3:191088600-191119600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:191089000-191097200	Weak transcription	Fetal Thymus	thymus
42	chr3:191089600-191093800	Weak transcription	Fetal Heart	heart
43	chr3:191089600-191093800	Weak transcription	NHEK	skin
44	chr3:191089600-191094200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr3:191089800-191094200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr3:191090000-191094200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr3:191090200-191093600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:191090600-191093200	Weak transcription	Primary B cells from cord blood	blood
49	chr3:191090800-191096000	Strong transcription	Primary B cells from peripheral blood	blood
50	chr3:191091200-191093800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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