Variant report

Variant	rs2844334
Chromosome Location	chr11:77119765-77119766
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	chr11:77109982..77113558-chr11:77117392..77121055,3	K562	blood:
2	chr11:77118642..77120180-chr11:77121556..77123065,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149269	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10793246	1.00[YRI][hapmap]
rs10899363	1.00[YRI][hapmap]
rs10899364	1.00[YRI][hapmap]
rs10899365	1.00[YRI][hapmap]
rs10899369	1.00[YRI][hapmap]
rs10899376	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10899378	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899379	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs11237145	1.00[YRI][hapmap]
rs11237146	1.00[YRI][hapmap]
rs11237147	1.00[YRI][hapmap]
rs11237173	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11237189	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11237193	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11237195	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11237196	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11237199	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12271542	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274255	1.00[YRI][hapmap]
rs12287216	1.00[YRI][hapmap]
rs1377470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1377471	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1453343	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1613357	1.00[YRI][hapmap]
rs1620915	1.00[YRI][hapmap]
rs1670452	1.00[YRI][hapmap]
rs1670453	1.00[YRI][hapmap]
rs1670460	1.00[YRI][hapmap]
rs17135625	0.86[ASN][1000 genomes]
rs1793466	1.00[YRI][hapmap]
rs1793467	1.00[YRI][hapmap]
rs1793488	1.00[YRI][hapmap]
rs1840151	0.97[EUR][1000 genomes]
rs1946005	1.00[YRI][hapmap]
rs2250639	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2250647	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2298793	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2602458	0.97[EUR][1000 genomes]
rs2602459	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2602463	0.86[EUR][1000 genomes]
rs2602464	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602465	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs2602468	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2602469	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2602470	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2602472	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs2602477	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602479	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602488	0.95[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2602489	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2725810	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2725815	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2725816	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2725826	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2725827	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2725830	0.97[EUR][1000 genomes]
rs2725831	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2725832	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2729747	0.94[EUR][1000 genomes]
rs2729753	0.82[EUR][1000 genomes]
rs2729762	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs2729769	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2729771	0.86[EUR][1000 genomes]
rs2844328	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2844332	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844333	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs2844336	0.88[EUR][1000 genomes]
rs2844337	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2852384	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852385	0.82[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2852392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852394	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2853086	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2853087	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2853088	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2853090	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2853096	1.00[YRI][hapmap]
rs2853103	0.94[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3018424	0.80[ASN][1000 genomes]
rs4590893	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56015509	0.92[AFR][1000 genomes]
rs7104166	1.00[YRI][hapmap]
rs7104295	1.00[YRI][hapmap]
rs7109645	0.81[CEU][hapmap];0.84[CHB][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7119033	0.96[EUR][1000 genomes]
rs7121483	1.00[YRI][hapmap]
rs7938075	1.00[YRI][hapmap]
rs7943778	0.83[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9634031	0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3437433	chr11:77101280-77291686	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77046800-77121600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:77084600-77121200	Weak transcription	Thymus	Thymus
3	chr11:77086600-77120000	Weak transcription	Spleen	Spleen
4	chr11:77095400-77121000	Weak transcription	Fetal Thymus	thymus
5	chr11:77098000-77121200	Weak transcription	Placenta	Placenta
6	chr11:77103000-77121400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:77103800-77121000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:77103800-77122000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:77110400-77121600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:77111200-77120400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr11:77112200-77121600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:77112800-77121200	Weak transcription	Esophagus	oesophagus
13	chr11:77113800-77122200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:77114000-77120600	Weak transcription	Primary B cells from cord blood	blood
15	chr11:77114200-77119800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr11:77117200-77120400	Enhancers	Primary T cells from cord blood	blood
17	chr11:77117200-77121400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:77117200-77121600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:77117200-77121800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:77117200-77122000	Weak transcription	Brain Anterior Caudate	brain
21	chr11:77117400-77120200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr11:77117400-77121200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr11:77117400-77121400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:77117400-77122000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:77117600-77119800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr11:77117600-77121200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr11:77117600-77121200	Enhancers	Duodenum Mucosa	Duodenum
28	chr11:77117800-77120200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr11:77117800-77120400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr11:77117800-77121000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:77117800-77121200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr11:77117800-77122200	Weak transcription	Lung	lung
33	chr11:77118200-77120000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr11:77118400-77119800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:77118400-77119800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr11:77118400-77119800	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr11:77118600-77119800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr11:77118600-77121200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:77118800-77119800	Enhancers	Dnd41	blood
40	chr11:77118800-77121200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr11:77118800-77121600	Enhancers	NHEK	skin
42	chr11:77118800-77122200	Weak transcription	Psoas Muscle	Psoas
43	chr11:77118800-77122400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:77118800-77123600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr11:77119000-77119800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:77119000-77120200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr11:77119000-77120800	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr11:77119000-77121200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:77119000-77121200	Weak transcription	Fetal Muscle Leg	muscle
50	chr11:77119000-77121200	Weak transcription	Fetal Stomach	stomach

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