Variant report

Variant	rs312790
Chromosome Location	chr11:68123887-68123888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:68123132..68127007-chr11:68145812..68149123,3	MCF-7	breast:
2	chr11:68122151..68124097-chr11:68131732..68133388,2	MCF-7	breast:
3	chr11:68122001..68124063-chr11:68124660..68126260,2	MCF-7	breast:
4	chr11:68107714..68112282-chr11:68118336..68124263,11	MCF-7	breast:
5	chr11:68116698..68120092-chr11:68121944..68124842,3	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs160517	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs160607	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs178352	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1784237	0.82[AMR][1000 genomes]
rs312778	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs312779	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs312780	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs312782	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312784	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs312785	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312791	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312792	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314761	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314775	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs314776	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs587808	0.83[AMR][1000 genomes]
rs643892	0.83[AMR][1000 genomes]
rs643981	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659605	0.83[AMR][1000 genomes]
rs671191	0.83[AMR][1000 genomes]
rs74744	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs91285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	esv3347272	chr11:67969427-68218997	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv897857	chr11:68056770-68231240	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv897859	chr11:68102000-68231240	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1047532	chr11:68103330-68239242	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv541082	chr11:68103330-68239242	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1039671	chr11:68120571-68206630	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68096600-68126000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:68110600-68137800	Weak transcription	Brain Angular Gyrus	brain
3	chr11:68110800-68125200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:68111200-68137400	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:68111400-68126400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:68113400-68125600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:68113400-68126400	Weak transcription	Fetal Brain Male	brain
8	chr11:68114000-68129600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:68114200-68125800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:68114400-68125400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:68114800-68138000	Weak transcription	Fetal Kidney	kidney
12	chr11:68115000-68126200	Strong transcription	Fetal Intestine Small	intestine
13	chr11:68115200-68126000	Weak transcription	GM12878-XiMat	blood
14	chr11:68115200-68126200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:68115400-68135200	Strong transcription	HepG2	liver
16	chr11:68115800-68124000	Weak transcription	K562	blood
17	chr11:68117200-68125200	Weak transcription	Primary T cells from cord blood	blood
18	chr11:68117400-68125000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:68118800-68125000	Weak transcription	Fetal Brain Female	brain
20	chr11:68119800-68125000	Weak transcription	Fetal Thymus	thymus
21	chr11:68121000-68124200	Strong transcription	Thymus	Thymus
22	chr11:68121200-68125000	Weak transcription	Aorta	Aorta
23	chr11:68121400-68126200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:68121600-68125200	Enhancers	Colon Smooth Muscle	Colon
25	chr11:68121600-68131200	Strong transcription	Fetal Intestine Large	intestine
26	chr11:68121600-68148200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:68121800-68125200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:68121800-68126000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:68121800-68128200	Strong transcription	Dnd41	blood
30	chr11:68121800-68137400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr11:68121800-68156400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:68122000-68125000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:68122000-68125000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:68122000-68126200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:68122000-68137800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr11:68122200-68124800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:68122200-68125000	Weak transcription	Brain Germinal Matrix	brain
38	chr11:68122200-68139800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:68122400-68126200	Weak transcription	Brain Anterior Caudate	brain
40	chr11:68122400-68128200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:68122600-68124800	Weak transcription	NHEK	skin
42	chr11:68122600-68125000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr11:68122600-68125200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr11:68122600-68126200	Genic enhancers	Liver	Liver
45	chr11:68122600-68138200	Weak transcription	HUVEC	blood vessel
46	chr11:68122800-68125000	Weak transcription	Small Intestine	intestine
47	chr11:68122800-68126000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:68122800-68126400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:68122800-68126600	Weak transcription	NHDF-Ad	bronchial
50	chr11:68122800-68129400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links