Variant report

Variant	rs312791
Chromosome Location	chr11:68125873-68125874
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:68122001..68124063-chr11:68124660..68126260,2	MCF-7	breast:
2	chr11:68123132..68127007-chr11:68145812..68149123,3	MCF-7	breast:
3	chr11:68124164..68126816-chr11:68131354..68133171,2	K562	blood:
4	chr11:68125238..68127022-chr11:68141458..68143757,2	K562	blood:
5	chr11:68125237..68127996-chr11:68134543..68137773,3	K562	blood:

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

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

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	0.84[AMR][1000 genomes]
rs312778	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs312779	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs312780	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs312782	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312783	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312784	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs312785	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312788	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312790	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312792	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314761	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314775	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs314776	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs587808	0.85[AMR][1000 genomes]
rs628115	0.81[AMR][1000 genomes]
rs643892	0.85[AMR][1000 genomes]
rs643981	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659605	0.85[AMR][1000 genomes]
rs671191	0.85[AMR][1000 genomes]
rs74744	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs91285	0.98[AFR][1000 genomes];0.98[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:105 , 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	chr11:68111200-68137400	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:68111400-68126400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:68113400-68126400	Weak transcription	Fetal Brain Male	brain
6	chr11:68114000-68129600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:68114800-68138000	Weak transcription	Fetal Kidney	kidney
8	chr11:68115000-68126200	Strong transcription	Fetal Intestine Small	intestine
9	chr11:68115200-68126000	Weak transcription	GM12878-XiMat	blood
10	chr11:68115200-68126200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:68115400-68135200	Strong transcription	HepG2	liver
12	chr11:68121400-68126200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:68121600-68131200	Strong transcription	Fetal Intestine Large	intestine
14	chr11:68121600-68148200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:68121800-68126000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:68121800-68128200	Strong transcription	Dnd41	blood
17	chr11:68121800-68137400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:68121800-68156400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:68122000-68126200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:68122000-68137800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:68122200-68139800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:68122400-68126200	Weak transcription	Brain Anterior Caudate	brain
23	chr11:68122400-68128200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:68122600-68126200	Genic enhancers	Liver	Liver
25	chr11:68122600-68138200	Weak transcription	HUVEC	blood vessel
26	chr11:68122800-68126000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:68122800-68126400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:68122800-68126600	Weak transcription	NHDF-Ad	bronchial
29	chr11:68122800-68129400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:68122800-68137200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr11:68123000-68126200	Strong transcription	Fetal Stomach	stomach
32	chr11:68123200-68126000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:68123200-68126000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr11:68123200-68126200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:68123200-68126200	Weak transcription	Placenta	Placenta
36	chr11:68123200-68126200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:68123200-68126200	Weak transcription	Spleen	Spleen
38	chr11:68123200-68126400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr11:68123200-68132400	Weak transcription	Stomach Mucosa	stomach
40	chr11:68123200-68136800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:68123200-68137000	Weak transcription	Psoas Muscle	Psoas
42	chr11:68123200-68137200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:68123200-68139600	Weak transcription	Brain Substantia Nigra	brain
44	chr11:68123400-68126000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:68123400-68126400	Weak transcription	NHLF	lung
46	chr11:68123400-68132400	Strong transcription	Fetal Muscle Trunk	muscle
47	chr11:68123400-68136000	Strong transcription	Fetal Muscle Leg	muscle
48	chr11:68123600-68126200	Strong transcription	Hela-S3	cervix
49	chr11:68123600-68126400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:68123800-68128000	Strong transcription	Fetal Lung	lung

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